القائمة
Query FAVOR API for variant functional prediction scores (CADD, SIFT, PolyPhen, REVEL, etc.) and gene annotation.
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npx skills add https://github.com/InternScience/DrClaw --skill variant-functional-predictionيبقى الأمر في سطر واحد. مرّر أفقيًا لمراجعته كاملًا قبل النسخ.
تفضّل نسخة محلية؟ نزّل الملفات المتاحة حاليًا لدى SkillsMP.
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عرض SKILL.md
| name | variant-functional-prediction |
| description | Query FAVOR API for variant functional prediction scores (CADD, SIFT, PolyPhen, REVEL, etc.) and gene annotation. |
| license | MIT license |
| metadata | {"skill-author":"PJLab"} |
| i18n | {"zh":{"description":"查询变异功能预测评分及基因注释。"}} |
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.)
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')}")