alterlab-gnomad

Queries the gnomAD API for allele frequencies, constraint scores, and variant data.

58|9|Updated Mar 16, 2026

Search Tags:#graphql #frequencies #variants #constraint #pli #gnomad #loeuf

Ready to run

npx skills add https://github.com/AlterLab-IEU/AlterLab-Academic-Skills --skill alterlab-gnomad

💬 Prompt for ChatGPT / Claude Chat▼

Please help me install this Agent Skill.
Skill: alterlab-gnomad
Source: https://github.com/AlterLab-IEU/AlterLab-Academic-Skills/tree/main/skills/databases/alterlab-gnomad
Command: npx skills add https://github.com/AlterLab-IEU/AlterLab-Academic-Skills --skill alterlab-gnomad

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes references (resource) components.

What problem does it solve?

Querying gnomAD data for population frequencies and gene constraint scores to support variant interpretation, gene prioritization, and population genetics analyses.

Core Features & Use Cases

GraphQL access to the gnomAD API for gene variants, frequencies, and constraint metrics across exomes/genomes.
Variant-focused workflows: fetch per-variant data, frequencies by population, and LOEUF/pLI constraint scores for interpretation.
Use Case: A researcher compares a candidate variant across ancestries to assess rarity and constraint signals for pathogenicity inference.

Quick Start

Run a GraphQL query against the gnomAD API to fetch gene variants, constraint scores, and population frequencies.

Frequently Asked Questions about alterlab-gnomad

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

FAQPage Schema

How do I query gnomAD allele frequencies and constraint scores for variant interpretation?▼

You can query gnomAD allele frequencies and constraint scores using this Skill to run GraphQL requests against the gnomAD API, fetching per-variant data, per-population frequencies, and pLI or LOEUF metrics to support disease variant interpretation.

What is the best way to compare genetic variant frequencies across different ancestries using gnomAD?▼

The best way to compare genetic variant frequencies across ancestries is to query the gnomAD API for per-ancestry population frequencies, allowing you to assess variant rarity and constraint signals across diverse population genetics datasets.

How do I retrieve pLI and LOEUF constraint metrics for gene prioritization?▼

Retrieve pLI and LOEUF constraint metrics for gene prioritization by executing GraphQL queries through the gnomAD API, which returns gene-level constraint scores to help identify genes intolerant to loss-of-function variation.

Do I need to understand GraphQL to fetch gnomAD population genetics data?▼

Yes, you need to understand GraphQL and have access to the gnomAD API endpoint, because the Skill constructs and processes GraphQL queries to extract exome and genome frequencies, variant details, and constraint metrics.

Can I use gnomAD exome and genome data for disease variant pathogenicity inference?▼

Yes, you can use gnomAD exome and genome data for disease variant pathogenicity inference by querying the API to obtain allele frequencies and constraint scores, which help evaluate variant rarity and gene intolerance.