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gnomad-database

Retrieves population allele frequencies and gene constraint metrics from the gnomAD GraphQL API.

1|Updated Mar 11, 2026
Search Tags:#genetics#frequencies#variants#gnomad#pLI#LOEUF#gene-constraint
One-click install
npx skills add https://github.com/SciMate-AI/scicli --skill gnomad-database-scimate-ai
Or copy as Structured Prompt for Agent▼
Please help me install this Agent Skill.
Skill: gnomad-database
Source: https://github.com/SciMate-AI/scicli/tree/main/internal/skills/bundled/claude-scientific-skills/skills/gnomad-database
Command: npx skills add https://github.com/SciMate-AI/scicli --skill gnomad-database-scimate-ai

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

Query gnomAD frequency data and gene-constraint metrics (pLI, LOEUF) to support genetic variant interpretation in research and clinical settings.

Core Features & Use Cases

  • Variant frequency lookup: Retrieve population allele frequencies across ancestries via the GraphQL API.
  • Gene constraint insights: Access pLI, LOEUF, and related constraint scores to assess gene intolerance.
  • Pathogenicity context: Combine frequency and constraint data to inform ACMG/ACGS evidence and prioritization.

Quick Start

Query gnomAD data for a gene or variant to retrieve population frequencies and constraint metrics.

Frequently Asked Questions about gnomad-database

High-intent search queries and answers about installing and using this skill.

FAQPage Schema
How do I query gnomAD population allele frequencies for genetic variant prioritization?▼

To query gnomAD population allele frequencies for variant prioritization, you retrieve genome and exome frequency data across ancestries by executing targeted queries against the gnomAD GraphQL API, returning specific population metrics for your variants.

What are gene constraint metrics like pLI and LOEUF and when do I need them?▼

Gene constraint metrics like pLI and LOEUF measure a gene's intolerance to loss-of-function variation. You need these scores during genetic interpretation to assess gene pathogenicity and support ACMG or ACGS evidence application.

Can I use gnomAD constraint scores to apply ACMG evidence for clinical genetics?▼

Yes, you can use gnomAD constraint scores to apply ACMG evidence for clinical genetics. The skill combines population frequency and gene constraint data to inform pathogenicity context and variant prioritization in clinical settings.

Does the gnomAD GraphQL API return both genome and exome frequencies?▼

Yes, the gnomAD GraphQL API returns both genome and exome frequencies. Queries are executed against specific datasets like gnomad_r4/genomes to retrieve comprehensive allele frequencies and LoF annotations across different ancestries.

What is the best way to access gnomAD variant frequencies and LoF annotations?▼

The best way to access gnomAD variant frequencies and LoF annotations is by querying the gnomAD GraphQL API directly. This facilitates rapid retrieval of population allele frequencies, constraint scores, and loss-of-function annotations for genetic analysis.

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