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scientific-gnomad-variants

Fetch population frequencies and gene-constraint scores from the gnomAD GraphQL API.

3|1|Updated Feb 11, 2026
Search Tags:#transcript#graphql#bioinformatics#constraint#region#frequency#gnomad
One-click install
npx skills add https://github.com/nahisaho/satori --skill scientific-gnomad-variants
Or copy as Structured Prompt for Agent▼
Please help me install this Agent Skill.
Skill: scientific-gnomad-variants
Source: https://github.com/nahisaho/satori/tree/main/src/.github/skills/scientific-gnomad-variants
Command: npx skills add https://github.com/nahisaho/satori --skill scientific-gnomad-variants

SYSTEM DOCUMENTATION & REQUIREMENTS

What problem does it solve?

gnomADデータの集団頻度と遺伝子制約スコアをプログラム的に取得・比較する手段を提供します。

Core Features & Use Cases

  • 集団頻度の取得: exome/genome の AF・AC・AN を取得
  • 遺伝子制約スコア: pLI、LOEUF などの指標を取得
  • リージョン検索: 指定区間のバリアントを列挙
  • トランスクリプトレベル情報: トランスクリプト別の影響を取得
  • Use Case: 研究・臨床解釈のための複数遺伝子・領域の比較や統合

Quick Start

Query a gene or variant in gnomAD to retrieve population frequencies and constraint scores.

Frequently Asked Questions about scientific-gnomad-variants

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

FAQPage Schema
How do I fetch gnomAD population frequencies and constraint scores programmatically?▼

Query the gnomAD GraphQL API to retrieve population frequency fields like AF, AC, and AN alongside gene constraint scores including pLI and LOEUF for both exome and genome datasets.

What is the difference between pLI and LOEUF gene constraint scores in gnomAD?▼

pLI and LOEUF are gene constraint metrics retrieved from the gnomAD GraphQL API indicating a gene's intolerance to loss-of-function variation, with LOEUF offering an observed-to-expected ratio for clinical interpretation.

Can I query gnomAD variant frequencies for a specific genomic region?▼

Region-level GraphQL queries enumerate variants within a specified genomic interval and return population frequency metrics across both exome and genome datasets for research interpretation.

How do I get transcript-level variant consequences from gnomAD?▼

Submit transcript-level GraphQL queries to the gnomAD API to retrieve transcript_consequences fields, returning the specific functional impact of variants on individual transcript isoforms.

Does this gnomAD API approach support both exome and genome datasets?▼

The GraphQL queries support both exome and genome datasets, allowing you to retrieve and compare population frequencies and constraint metrics across both data sources for integrated bioinformatics analysis.

What are the limitations of using GraphQL for gnomAD bioinformatics queries?▼

GraphQL queries for gnomAD require precise structuring for variant, region, or gene constraint retrieval, and return structured fields like af, ac, an, pLI, and LOEUF that must be parsed for downstream clinical interpretation.

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