gnomad-database

Variant rarity and gene constraint, queried from gnomAD.

variant interpretation

What it does

Retrieves gnomAD allele frequencies, gene constraint metrics, and variants for genes or genomic regions.

When to use it

Use when assessing variant rarity, gene loss-of-function intolerance, or variants within a gene or genomic region.

Give it a variant identifier, gene, or genomic region; it writes the requested gnomAD data to a JSON file.

This skill

gnomAD database

Read

Queries the gnomAD database

uv must be installed and available on PATH.

The bundled query scripts require Python 3.10 or newer.

The bundled query scripts depend on polite-http.