genomi-gnomad

Fetch population allele frequencies for a specified variant from gnomAD.

475|61|Updated May 28, 2026

Search Tags:#variant analysis #gnomAD #allele frequency #genetic data #population stratification

Ready to run

npx skills add https://github.com/exon-research/genomi --skill genomi-gnomad

💬 Prompt for ChatGPT / Claude Chat▼

Please help me install this Agent Skill.
Skill: genomi-gnomad
Source: https://github.com/exon-research/genomi/tree/main/skills/gnomad
Command: npx skills add https://github.com/exon-research/genomi --skill genomi-gnomad

SYSTEM DOCUMENTATION & REQUIREMENTS

💡 This Skill includes scripts (resource) components.

What problem does it solve?

This Skill allows users to fetch public population allele frequencies from gnomAD for a specific variant, aiding in allele frequency, MAF, population stratification, and rarity analysis.

Core Features & Use Cases

Population Frequency Retrieval: Fetch allele frequencies for a given variant from gnomAD.
Data Caching: Local caching of results for efficient subsequent queries.
Use Case: When a user needs to understand the frequency of a specific allele across different populations, such as "What is the gnomAD frequency of rs429358?"

Quick Start

Use the genomi-gnomad skill to retrieve the allele frequency for variant '19:44908684:T>C' in the GRCh38 genome build.

Frequently Asked Questions about genomi-gnomad

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

FAQPage Schema

How do I retrieve gnomAD allele frequencies for a specific variant?▼

To retrieve gnomAD allele frequencies, query the database with a specified variant like '19:44908684:T>C' in the GRCh38 genome build. The tool fetches public population allele frequency data for MAF and rarity analysis.

What is population stratification analysis and how does gnomAD data support it?▼

Population stratification analysis compares allele frequencies across different demographic groups. This skill provides gnomAD variant frequency data to evaluate genetic variation distributions across populations for MAF and rarity analysis.

Can I query gnomAD for variant data using GRCh38 coordinates?▼

Yes, you can query gnomAD using GRCh38 coordinates. The skill accepts specific chromosomal positions like '19:44908684:T>C' to fetch the corresponding public population allele frequencies from the database.

Do I need direct access to the gnomAD database to check allele frequencies?▼

Yes, retrieving allele frequencies requires access to the gnomAD database and the ability to query variant data. The skill fetches and locally caches these public population frequency results for efficient subsequent queries.

Are there limitations when fetching minor allele frequency data from gnomAD?▼

Fetching minor allele frequency data is limited to variants present in the public gnomAD database. The skill retrieves allele frequencies for specified variants, requiring accurate query inputs within supported genome builds like GRCh38.