variant-gwas-associations
Query EBI GWAS Catalog for GWAS statistical associations (p-value, effect size, risk allele) between a variant and traits/diseases.
Best use case
variant-gwas-associations is best used when you need a repeatable AI agent workflow instead of a one-off prompt.
Query EBI GWAS Catalog for GWAS statistical associations (p-value, effect size, risk allele) between a variant and traits/diseases.
Teams using variant-gwas-associations should expect a more consistent output, faster repeated execution, less prompt rewriting.
When to use this skill
- You want a reusable workflow that can be run more than once with consistent structure.
When not to use this skill
- You only need a quick one-off answer and do not need a reusable workflow.
- You cannot install or maintain the underlying files, dependencies, or repository context.
Installation
Claude Code / Cursor / Codex
Manual Installation
- Download SKILL.md from GitHub
- Place it in
.claude/skills/variant-gwas-associations/SKILL.mdinside your project - Restart your AI agent — it will auto-discover the skill
How variant-gwas-associations Compares
| Feature / Agent | variant-gwas-associations | Standard Approach |
|---|---|---|
| Platform Support | Not specified | Limited / Varies |
| Context Awareness | High | Baseline |
| Installation Complexity | Unknown | N/A |
Frequently Asked Questions
What does this skill do?
Query EBI GWAS Catalog for GWAS statistical associations (p-value, effect size, risk allele) between a variant and traits/diseases.
Where can I find the source code?
You can find the source code on GitHub using the link provided at the top of the page.
SKILL.md Source
# EBI GWAS Catalog — Trait Associations
## Usage
### Tool Description
```tex
Query EBI GWAS Catalog REST API to get GWAS association information for a variant.
Database: EBI GWAS Catalog (https://www.ebi.ac.uk/gwas/)
API: GET https://www.ebi.ac.uk/gwas/rest/api/associations/search/findByRsId?rsId={rsid}
Args:
rs_id (str): dbSNP rsID (e.g. "rs7412")
Return:
associations (list): Each contains pvalue, risk allele, trait/disease, source study.
```
### Query Example
```python
import requests
rs_id = "rs7412"
url = f"https://www.ebi.ac.uk/gwas/rest/api/associations/search/findByRsId?rsId={rs_id}"
resp = requests.get(url, headers={"Accept": "application/json"}, timeout=30).json()
associations = resp.get("_embedded", {}).get("associations", [])
print(f"[GWAS Catalog] {rs_id} 关联数: {len(associations)}")
for i, assoc in enumerate(associations[:10]): # 展示前10条
pval = assoc.get("pvalue", "N/A")
beta = assoc.get("betaNum", "N/A")
risk_freq = assoc.get("riskFrequency", "N/A")
# 获取 trait 名称需要额外请求 _links
trait_link = assoc.get("_links", {}).get("efoTraits", {}).get("href", "")
if trait_link:
trait_resp = requests.get(trait_link, headers={"Accept": "application/json"}, timeout=15).json()
traits = [t.get("trait", "") for t in trait_resp.get("_embedded", {}).get("efoTraits", [])]
else:
traits = ["unknown"]
print(f" [{i+1}] p={pval}, beta={beta}, traits={traits}")
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