gnomad-database - Query gnomAD Genetic Variation Database
Query gnomAD database for variant frequencies and gene constraint scores via GraphQL API
Tags
Updated: 2026-03-24Capabilities
Typical Inputs
Typical Outputs
What this skill does
- query gene variants
- query variant details
- query gene constraint scores
- get population frequencies
- filter rare variants
- assess LoF intolerance
Inputs
- gene symbol
- variant ID
- dataset ID
- reference genome ID
- population ID
Outputs
- variant details
- allele frequencies
- gene constraint scores
- population frequency data
- LoF annotation data
Requirements
- GraphQL API access
- Internet connection