variant-functional-prediction
Query FAVOR API for variant functional prediction scores (CADD, SIFT, PolyPhen, REVEL, etc.) and gene annotation.
Best use case
variant-functional-prediction is best used when you need a repeatable AI agent workflow instead of a one-off prompt.
Query FAVOR API for variant functional prediction scores (CADD, SIFT, PolyPhen, REVEL, etc.) and gene annotation.
Teams using variant-functional-prediction 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-functional-prediction/SKILL.mdinside your project - Restart your AI agent — it will auto-discover the skill
How variant-functional-prediction Compares
| Feature / Agent | variant-functional-prediction | 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 FAVOR API for variant functional prediction scores (CADD, SIFT, PolyPhen, REVEL, etc.) and gene annotation.
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
# FAVOR Functional Prediction
## Usage
### Tool Description
```tex
Query FAVOR (GenoHub) API to get variant functional prediction scores.
API: GET https://api.genohub.org/v1/rsids/{rs_id}
Note: Returns a JSON list; use first element.
Args:
rs_id (str): dbSNP rsID (e.g. "rs7412")
Return:
Gene name, exonic category, functional prediction scores
(CADD, SIFT, PolyPhen2, MutationTaster, GERP, etc.)
```
### Query Example
```python
import requests
rs_id = "rs7412"
url = f"https://api.genohub.org/v1/rsids/{rs_id}"
resp = requests.get(url, timeout=30).json()
d = resp[0] if isinstance(resp, list) else resp
print(f"[FAVOR] variant: {d.get('variant_vcf')}")
print(f"[FAVOR] 基因: {d.get('genecode_comprehensive_info')}")
print(f"[FAVOR] 区域: {d.get('genecode_comprehensive_category')}")
print(f"[FAVOR] 外显子变异类别: {d.get('genecode_comprehensive_exonic_category')}")
print(f"[FAVOR] CADD phred: {d.get('cadd_phred')} (>20=有害)")
print(f"[FAVOR] SIFT: {d.get('sift_cat')} (val={d.get('sift_val')})")
print(f"[FAVOR] PolyPhen2 HDIV: {d.get('polyphen2_hdiv_score')}")
print(f"[FAVOR] PolyPhen2 HVAR: {d.get('polyphen2_hvar_score')}")
print(f"[FAVOR] MutationTaster: {d.get('mutation_taster_score')}")
print(f"[FAVOR] MutationAssessor: {d.get('mutation_assessor_score')}")
print(f"[FAVOR] MetaSVM pred: {d.get('metasvm_pred')}")
print(f"[FAVOR] GERP_N: {d.get('gerp_n')}, GERP_S: {d.get('gerp_s')}")
print(f"[FAVOR] BRAVO AF: {d.get('bravo_af')}")
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