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Query gnomAD for population allele frequencies, variant consequence annotations, and gene constraint scores to support variant interpretation and population gen
This skill provides practical guidance and GraphQL query examples for using the gnomAD database (v2–v4). It helps agents fetch variant-level allele frequencies, population-stratified counts, gene constraint metrics (pLI, LOEUF, oe), and structural-variant summaries to support pathogenicity assessment, rare-disease gene prioritization, and population genetics workflows. The skill includes reproducible Python examples for querying genes, specific variants, constraint scores, population frequencies, and structural variants via the gnomAD GraphQL API.
Use this skill when evaluating variant pathogenicity (filtering common variants, checking homozygous counts), prioritizing candidate genes using constraint metrics, or when you need ancestry-aware allele frequency breakdowns. Also use it for research tasks: comparing allele frequencies across populations, extracting per-population AF tables, and fetching LoF/structural-variant summaries.
Best suited for agents that can run Python/HTTP queries and parse JSON (Claude/Copilot-style agents with network access or a toolchain to run short Python scripts). The examples are plain Python+requests and translate easily to other languages or HTTP clients.
This skill has not been reviewed by our automated audit pipeline yet.
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