- Created by Javier Lopez on Jan 04, 2017
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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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