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Installation
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:
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$ git clone https://github.com/opencb/opencga.git |
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 opencga$ cd build opencga/build$ cd bin opencga/build/bin$ ./opencga.sh Program: OpenCGA (OpenCB) Version: 0.9.0-dev Git commit: a1ab0decf97556241b446d23cc596ecb5a3f997c Description: Big Data platform for processing and analysing NGS data Usage: opencga.sh [-h|--help] [--version] <command> [options] Commands: users User commands projects Project commands studies Study commands files Files commands jobs Jobs commands individuals Individuals commands samples Samples commands variables Variable set commands cohorts Cohorts commands tools Tools commands panels Panels commands |
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://bioinfodev.hpc.cam.ac.uk/hgva-1.0":
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--- ## number of seconds that session remain open sessionDuration: 12000 ## REST client configuration options rest: host: "http://bioinfodev.hpc.cam.ac.uk/hgva-1.0" batchQuerySize: 200 timeout: 10000 defaultLimit: 2000 ## gRPC configuration options grpc: host: "localhost:9091" |
Examples
The CLI provides commands, subcommands and parameters to access its functionality. Commands of most interest for HGVA users are projects, studies and samples. Please, find below a list of commands which can be of most interest for HGVA user.
Getting information about genomic variants
Getting variant data from a given study:
An extensive list of filtering parameters allow great flexibility on the queries (check Swagger documentation link above). For example, get TTN variants from the Genome of the Netherlands study, which is framed within the reference_grch37 project. 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
For example, getting all metadata for the reference_grch37 project:
http://bioinfodev.hpc.cam.ac.uk/hgva-1.0/webservices/rest/v1/projects/reference_grch37/info
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
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
Get all available studies and their metadata. 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 summary data from a particular study:
http://bioinfodev.hpc.cam.ac.uk/hgva-1.0/webservices/rest/v1/studies/{project}:{study}/summary
For example, getting summary data for study 1kG_phase3 which is framed within project reference_grch37:
Getting all available metadata for a particular study:
http://bioinfodev.hpc.cam.ac.uk/hgva-1.0/webservices/rest/v1/studies/{project}:{study}/info
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
Getting all samples metadata for a given study:
http://bioinfodev.hpc.cam.ac.uk/hgva-1.0/webservices/rest/v1/studies/{project}:{study}/samples
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.
Getting information about samples
Get all metadata for a particular sample:
For example, get all metadata for sample HG00096 of the 1kG_phase3 study which is framed within the reference_grch37 project:
Getting information about cohorts
Getting all samples metadata in a given cohort:
For example, get all samples metadata for cohort GBR from study 1kG_phase3 which is framed within project reference_grch37:
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