gnomad-database

You can query gnomAD population allele frequencies through a GraphQL API interface that retrieves allele frequency (af), allele count (ac), and allele number (an) metrics across specified datasets. This supports variant interpretation workflows by providing concise, ready-to-use population data.

gnomAD constraint scores like pLI and LOEUF are used to prioritize candidate genes in rare disease studies by identifying genes intolerant to loss-of-function (LoF) variants. These gene-level metrics help assess gene-disease relationships and filter variants during clinical assessment.

Yes, you can retrieve ancestry-specific allele frequencies from gnomAD datasets to support population genetics and clinical assessment workflows. The GraphQL interface handles per-population data extraction across datasets including gnomad_r4, gnomad_r3, and gnomad_r2_1.

The GraphQL approach works with gnomAD dataset versions including gnomad_r4, gnomad_r4_genomes, gnomad_r3, and gnomad_r2_1. It accesses core metrics such as af, ac, an, ac_hom, lof, and gnomad_constraint across these specific dataset versions.

The best way to get gene constraint metrics and loss-of-function data for rare disease prioritization is querying the gnomAD GraphQL endpoint to fetch pLI, LOEUF, and observed LoF variants simultaneously. This combination helps identify genes highly intolerant to LoF variation.

Limitations of using GraphQL to fetch gnomAD variant-level data include reliance on the stability and availability of the external gnomAD API. Additionally, queries are constrained to the specific core data fields and datasets exposed by the interface, such as af, ac, an, and rsids.