gnomad-database

To fetch gnomAD population allele frequencies for variant interpretation, query the gnomAD GraphQL API at the Broad Institute endpoint to retrieve per-variant frequencies and gene constraint metrics across exome and genome datasets like gnomad_r4.

gnomAD constraint scores measure gene-level intolerance to loss-of-function or missense variation. You need these metrics during pathogenicity assessment and variant prioritization in rare-disease genetics research to identify constrained genes.

Yes, you can retrieve ancestry-specific population frequencies from the gnomAD GraphQL API. It exposes ancestry- and population-specific allele frequencies to inform population genetics analyses across datasets like gnomad_r4_genomes.

Yes, the gnomAD GraphQL API supports querying both gnomad_r4 and gnomad_r4_genomes datasets. This allows you to access comprehensive exome and genome population frequency data and constraint metrics for your research workflows.

The best way to query gene-level constraint metrics is by using the supplied GraphQL querying templates to access the gnomAD API at gnomad.broadinstitute.org/api, fetching constraint scores directly for your targeted genes.