Agent Skills
› openai/plugins
› gnomad-graphql-skill
gnomad-graphql-skill
GitHub通过执行gnomad_graphql.py脚本，提交紧凑的gnomAD GraphQL请求以查询变异频率、基因约束及转录本上下文。默认返回简洁Markdown摘要，支持指定变量、限制结果数量及保存原始JSON数据，适用于获取基因组数据的简明总结。
Trigger Scenarios
用户需要查询特定变异的群体频率
用户希望获取基因的约束评分或突变耐受性信息
用户需要了解变异对转录本的具体影响后果
用户请求提供gnomAD数据库的简要汇总信息
Install
npx skills add openai/plugins --skill gnomad-graphql-skill -g -y
SKILL.md
Frontmatter
{
"name": "gnomad-graphql-skill",
"description": "Submit compact gnomAD GraphQL requests for frequency, gene constraint, and variant context queries. Use when a user wants concise gnomAD summaries"
}
Operating rules
- Use
scripts/gnomad_graphql.pyfor all gnomAD GraphQL work. - For nested GraphQL results, start with
max_items=3to5. - Keep selection sets narrow and page or filter at the query level instead of asking for broad dumps.
- Use
query_pathfor long GraphQL documents instead of pasting large inline queries. - Re-run requests in long conversations instead of relying on earlier tool output.
- Treat displayed
...in tool previews as UI truncation, not part of the real query.
Execution behavior
- Return concise markdown summaries from the script JSON by default.
- Return raw JSON only if the user explicitly asks for machine-readable output.
- Prefer targeted queries for variant frequency, gene constraint, or transcript consequence context.
- If the user needs the full payload, set
save_raw=trueand report the saved file path.
Input
- Read one JSON object from stdin.
- Required field:
queryorquery_path - Optional fields:
variables,max_items,max_depth,timeout_sec,save_raw,raw_output_path - Common gnomAD patterns:
{"query":"query { meta { clinvar_release_date } }"}{"query":"query Variant($variantId: String!, $dataset: DatasetId!) { variant(variantId: $variantId, dataset: $dataset) { variantId genome { ac an af } } }","variables":{"variantId":"1-55516888-G-GA","dataset":"gnomad_r4"},"max_items":3}
Output
- Success returns
ok,source,top_keys, a compactsummary, andraw_output_pathwhensave_raw=true. - Failure returns
ok=falsewitherror.codesuch asinvalid_json,invalid_input,network_error,invalid_response, orgraphql_error.
Execution
echo '{"query":"query { meta { clinvar_release_date } }"}' | python scripts/gnomad_graphql.py
References
- No additional runtime references are required; keep the import package limited to this file and
scripts/gnomad_graphql.py.
Version History
- 11c74d6 Current 2026-07-19 09:38
