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Once the CLI code has been downloaded a properly configured (please refer to the Command Line Interface (CLI) section for further information), it is ready for start querying HGVA. We will focus on those commands, subcommands and parameters of the CLI which are of more interest for HGVA users, giving examples of their use and pin pointing certain peculiarities of the parameters for HGVA. Data is hierarchically organised in Projects and Studies. Please, have a look at Datasets and Studies in order to understand how data is organized: Projects, Studies and Cohorts . For details on the query parameters, please refer to the Swagger documentation at:
http://bioinfodev.hpc.cam.ac.uk/hgva-1.0/webservices
Further details on the API specification can be found at the RESTful Web Services and Clients section.
Getting information about genomic variants
Getting variant data from a given study:
http://bioinfodevInstallation
As described in the documentation, HGVA backend is powered by the OpenCGA project. The CLI is distributed with the rest of the OpenCGA code. The OpenCGA code can be cloned in your machine by executing in your terminal. Checkout the latest code (release-1.1.0 branch):
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$ git clone https://github.com/opencb/opencga.git
$ git checkout v1.3.6 |
Alternatively, you can download tar.gz files with the code for the latest tags/releases of OpenCGA from:
https://github.com/opencb/opencga/releases
Once you have downloaded the code, follow the instructions at the How to Build section of the OpenCGA repository:
https://github.com/opencb/opencga
The CLI interface is accessible through the opencga.sh script:
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cd opencga
cd build
cd bin
opencga/build/bin$ ./opencga.sh
Program: OpenCGA (OpenCB)
Version: 1.1.0
Git commit: f2dace56fcdf491efee8ebb0cb43f981e31c320e
Description: Big Data platform for processing and analysing NGS data
Usage: opencga.sh [-h|--help] [--version] <command> [options]
Catalog commands:
users User commands
projects Project commands
studies Study commands
files File commands
jobs Jobs commands
individuals Individual commands
families Family commands
samples Samples commands
variables Variable set commands
cohorts Cohorts commands
Analysis commands:
alignments Implement several tools for the genomic alignment analysis
variant Variant commands
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The CLI provides commands, subcommands and parameters to access its functionality. Commands of most interest for HGVA users are projects, studies, cohorts and samples. Please, find below a list of commands which can be of most interest for HGVA user. Further documentation on the OpenCGA CLI can be found at the Command Lines section of the OpenCGA documentation.
Configuration
As previously said, the CLI makes intensive use of the RESTful API. Thus, the only configuration detail needed for the CLI to work is a URL where the Web Services API is hosted. The configuration file client-configuration.yml is used for this purpose. You shall find a template of this file at the build/conf directory:
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$ ll opencga/build/conf/client-configuration.yml
-rw-r--r-- 1 fjlopez fjlopez 290 Oct 24 17:49 opencga/build/conf/client-configuration.yml |
Edit this file with any text editor and set the rest → host attribute to "http://bioinfo.hpc.cam.ac.uk/hgva-1.0/webservices/rest/v1/analysis/variant/query?studies={project}:{study}":
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---
## number of seconds that session remain open
sessionDuration: 12000
## REST client configuration options
rest:
host: "http://bioinfo.hpc.cam.ac.uk/hgva"
batchQuerySize: 200
timeout: 30000
defaultLimit: 2000
## gRPC configuration options
grpc:
host: "localhost:9091" |
Examples
Getting information about variants
You can query variants by using the variant command and query subcommand. An extensive list of filtering parameters allow great flexibility on the queries (check Swagger documentation link above). Please, check inline help provided by opencga.sh for further details. For example, get TTN variants from the Genome of the Netherlands study, which is framed within the reference_grch37 project. We will restrict studies data to those corresponding to GONL. Finally, we will also limit the number of returned results to 3:
Getting information about projects
Getting all metadata from a particular project:
http://bioinfodev.hpc.cam.ac.uk/hgva-1.0/webservices/rest/v1/projects/{projects}/info
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./opencga.sh variant query --gene TTN --study GONL --limit 3 --of json --output-study GONL |
Getting information about projects
You can use the command projects to query projects data.
For getting all metadata from a particular project you can use the info subcommand. For example, getting all metadata for the referencecancer_grch37 project:
http://bioinfodev.hpc.cam.ac.uk/hgva-1.0/webservices/rest/v1/projects/reference_grch37/info
Getting grch37 project:
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./opencga.sh projects info --project cancer_grch37 |
For getting all metadata from all studies associated to a particular project :
http://bioinfodev.hpc.cam.ac.uk/hgva-1.0/webservices/rest/v1/projects/{projects}/studies
yo ucan use the studies subcommand. For example, getting all studies and their metadata for the cancer_grch37 project:
http://bioinfodev.hpc.cam.ac.uk/hgva-1.0/webservices/rest/v1/projects/cancer_grch37/studies
Getting information about studies
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./opencga.sh projects studies --project cancer_grch37 |
Getting information about studies
You can use the command studies to query studies data.
For getting all available studies and their metadata . Please you can use the search subcommand. For example, getting all metadata for all available studies (please note, of special interest will be here the field alias which contains the study identifier to be used as an input whenever a study must be passed as a parameter):
http://bioinfodev.hpc.cam.ac.uk/hgva-1.0/webservices/rest/v1/studies/search
For example, getting all metadata for all available studies:
http://bioinfodev.hpc.cam.ac.uk/hgva-1.0/webservices/rest/v1/studies/search
Getting
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./opencga.sh studies search |
For getting summary data from a particular study :
http://bioinfodev.hpc.cam.ac.uk/hgva-1.0/webservices/rest/v1/studies/{project}:{study}/summary
you can use the summary subcommand. For example, getting summary data for study 1kG_phase3 which is framed within project reference_grch37:http://bioinfodev.hpc.cam.ac.uk/hgva-1.0/webservices/rest/v1/studies/
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./opencga.sh studies summary --study reference_grch37:1kG_phase3 |
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Getting For getting all available metadata for a particular study :
http://bioinfodev.hpc.cam.ac.uk/hgva-1.0/webservices/rest/v1/studies/{project}:{study}/info
you can use the info command. For example, getting all metadata for study GONL which is framed within the project reference_grch37:
http://bioinfodev.hpc.cam.ac.uk/hgva-1.0/webservices/rest/v1/studies/reference_grch37:GONL/info
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./opencga.sh studies info --study GONL |
For getting all samples metadata for a given study :
http://bioinfodev.hpc.cam.ac.uk/hgva-1.0/webservices/rest/v1/studies/{project}:{study}/samples
you can use the samples subcommand. For example, getting all samples metadata for study 1kG_phase3 which is framed within project reference_grch37. Please, note that not all studies contain samples data, e.g. GONL, ExAC, among others, only provide variant lists and aggregated frequencies, i.e. no sample genotypes.http://bioinfodev.hpc.cam.ac.uk/hgva-1.0/webservices/rest/v1/studies/
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./opencga.sh studies samples --study reference_grch37:1kG_phase3 |
Getting information about samples
Get
You can use the command samples to query samples data.
For getting all metadata for a particular sample :
you can use the info subcommand. For example, get all metadata for sample HG00096 of the 1kG_phase3 study which is framed within the reference_grch37 project:http://bioinfodev.hpc.cam.ac.uk/hgva-1.0/webservices/rest/v1/samples/HG00096/info?study=
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./opencga.sh samples info --sample HG00096 --study reference_grch37:1kG_phase3 |
Getting information about cohorts
Getting You can use the cohorts command to query cohorts data.
For getting all samples metadata in a given cohort :
For you can use the samples subcommand. For example, get all samples metadata for cohort GBR from study 1kG_phase3 which is framed within project reference_grch37:http://bioinfodev.hpc.cam.ac.uk/hgva-1.0/webservices/rest/v1/cohorts/GBR/samples?study=
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./opencga.sh cohorts samples --study reference_grch37:1kG_phase3 --cohort GBR |
Table of Contents:
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