--- name: variant-pharmacogenomics description: "Query PharmGKB (clinPGx) for pharmacogenomic clinical annotations — how a variant affects drug response, dosing, and adverse reactions." license: MIT license metadata: skill-author: PJLab --- # PharmGKB (clinPGx) — Pharmacogenomic Annotations ## Usage ### Tool Description ```tex Query PharmGKB clinical annotations API to find drug-gene-variant interactions. Database: PharmGKB / clinPGx (https://www.pharmgkb.org/) API: GET https://api.clinpgx.org/v1/data/clinicalAnnotation?location.fingerprint={rsid}&view=base Args: rs_id (str): dbSNP rsID (e.g. "rs7412") Return: Clinical annotations: related drugs (chemicals), evidence level (1A/1B/2A/2B/3/4), related diseases, gene (APOE etc.), phenotype categories (efficacy/toxicity/dosage/PK), related guidelines and FDA labels. Return Fields Explanation: - relatedChemicals: 关联的药物/化合物名称和 PharmGKB ID - levelOfEvidence.term: 证据级别 (1A=最强, 有CPIC/DPWG指南; 4=最弱, 个案报告) - location.genes: 变异所在基因 - relatedDiseases: 关联疾病 - types: 注释类型 (Efficacy=疗效, Toxicity=毒性, Dosage=剂量, PK=药代动力学) - relatedGuidelines: 关联的用药指南 (CPIC, DPWG 等) - relatedLabels: 关联的 FDA 药品标签 ``` ### Query Example ```python import requests rs_id = "rs7412" url = f"https://api.clinpgx.org/v1/data/clinicalAnnotation?location.fingerprint={rs_id}&view=base" resp = requests.get(url, timeout=30).json() if isinstance(resp, dict) and "data" in resp: annotations = resp["data"] elif isinstance(resp, list): annotations = resp else: annotations = [] print(f"[PharmGKB] {rs_id} 药物基因组注释数: {len(annotations)}") for i, ann in enumerate(annotations): # 药物 drugs = [c.get("name", "") for c in ann.get("relatedChemicals", [])] # 证据级别 evidence = ann.get("levelOfEvidence", {}).get("term", "N/A") # 基因 genes = [g.get("symbol", "") for g in ann.get("location", {}).get("genes", [])] # 疾病 diseases = [d.get("name", "") for d in ann.get("relatedDiseases", [])] # 注释类型 ann_types = ann.get("types", []) print(f"\n [{i+1}] 药物: {drugs}") print(f" 证据级别: {evidence}") print(f" 基因: {genes}") print(f" 类型: {ann_types}") if diseases: print(f" 疾病: {diseases}") ```