Fetch compact FinnGen PheWAS summaries for single variants by accepting rsID, GRCh37, or GRCh38 input and resolving to the required GRCh38 query. Use when a user wants concise FinnGen association results for one variant
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---
name: x-openai-finngen-phewas-skill-8f5adea
description: Fetch compact FinnGen PheWAS summaries for single variants by accepting rsID, GRCh37, or GRCh38 input and resolving to the required GRCh38 query. Use when a user wants concise FinnGen association results for one variant
---
### 导出副本边界与技能别名
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跨技能名称可能沿用源库别名。先查 [技能别名表](../../skill-aliases.json),优先选择同来源、同插件的条目,再使用其 `id` 调用或读取对应入口;不得假定旧 `$skill`、`superpowers:skill` 名称在新宿主直接注册。不能确定目标时先核对,不替换真实产品命令或 Shell 环境变量。
## 跨宿主使用约定
本副本供支持 Agent Skills 的客户端使用。先检查当前宿主实际提供的工具、权限和已连接服务,再执行正文工作流。原文中的宿主工具标识是能力参考;只有实际发现该工具时才可调用,其他宿主应使用经核验的等价 MCP、CLI 或 API。没有等价能力的步骤必须报告不可用,不能虚构调用或完成状态。
技能资源以本技能目录为基准;输出写入当前项目中用户指定的位置。通过技能名称或自然语言触发,具体快捷命令由宿主决定。涉及真实产品、模型 API、协议字段和官方网址的名称保持原意。授权、审批、隐私和工具范围限制在迁移后仍然有效;不得为兼容而扩大权限。具体依赖与迁移说明见同目录 `PORTABILITY.md`。
## Operating rules
- Use `scripts/finngen_phewas.py` for all FinnGen PheWAS lookups.
- Accept exactly one of `rsid`, `grch37`, `grch38`, or `variant`; resolve to the canonical GRCh38 `chr:pos-ref-alt` query before calling FinnGen.
- The script accepts `max_results`; start with `max_results=10` and only increase it if the first slice is insufficient.
- Re-run the lookup in long conversations instead of relying on older tool output.
- Treat displayed `...` in tool previews as UI truncation, not literal request content.
- If the user needs the full association payload, set `save_raw=true` and report `raw_output_path` instead of pasting large arrays into chat.
## Execution behavior
- Return concise markdown summaries from the script JSON by default.
- Return the JSON verbatim only if the user explicitly asks for machine-readable output.
- Surface the canonical queried variant, total association count, truncation status, and any returned `regions`.
- Increase `max_results` gradually instead of asking for large association dumps in one call.
## Input
- Read one JSON object from stdin, or a single JSON string containing the variant.
- Required input: exactly one of `rsid`, `grch37`, `grch38`, or `variant`
- Optional fields: `max_results`, `save_raw`, `raw_output_path`, `timeout_sec`
- Common patterns:
- `{"grch38":"10:112998590-C-T","max_results":10}`
- `{"grch37":"10:114758349-C-T","max_results":10}`
- `{"rsid":"rs7903146","max_results":10}`
- `{"variant":"10:112998590:C:T","max_results":25,"save_raw":true}`
## Output
- Success returns `ok`, `source`, `input`, `query_variant`, `max_results_applied`, `association_count`, `association_count_total`, `truncated`, `associations`, `variant`, `regions`, `variant_url`, `raw_output_path`, and `warnings`.
- Use `raw_output_path` when `save_raw=true`.
- Failure returns `ok=false` with `error.code` and `error.message`.
## Execution
```bash
echo '{"grch38":"10:112998590-C-T","max_results":10}' | python scripts/finngen_phewas.py
```
## References
- No additional runtime references are required; keep the import package limited to this file and `scripts/finngen_phewas.py`.