What problem does it solve?
Researchers often need quick, targeted answers from the gnomAD database without writing and debugging raw GraphQL requests or parsing huge JSON payloads. This Skill submits compact gnomAD GraphQL queries and returns concise, readable summaries of variant frequencies, gene constraint metrics, and transcript consequence context.
Core Features & Use Cases
- Compact GraphQL Execution: Sends queries to the gnomAD API endpoint with variables, timeouts, and truncation controls, returning trimmed summaries instead of overwhelming raw dumps.
- Flexible Input Options: Accepts inline queries or a
query_path file for long GraphQL documents, plus optional max_items, max_depth, and save_raw settings.
- Structured Error Reporting: Returns clear error codes such as
network_error, graphql_error, or invalid_input so failures are easy to diagnose.
- Use Case: Ask for the allele frequency of variant 1-55516888-G-GA in gnomAD v4 and receive a short markdown summary with ac, an, and af values instead of the full API response.
Quick Start
Ask the assistant to look up the allele frequency of a specific variant in gnomAD r4 and summarize the result.
