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skills/clinvar-variation-skill/scripts/clinvar_variation.py
9.52 KB · Sep 30, 2026 · 23:00 UTC
#!/usr/bin/env python3
"""Compact ClinVar + NCBI Variation helper for ChatGPT-imported skills."""
from __future__ import annotations
import json
import sys
from pathlib import Path
from typing import Any
sys.path.insert(0, str(Path(__file__).resolve().parents[3] / "scripts"))
from database_source_contract import apply_source_contract # noqa: E402
try:
import requests
except ImportError as exc: # pragma: no cover
requests = None
REQUESTS_IMPORT_ERROR = exc
else:
REQUESTS_IMPORT_ERROR = None
CLINICAL_TABLES_URL = "https://clinicaltables.nlm.nih.gov/api/variants/v4/search"
VARIATION_BASE = "https://api.ncbi.nlm.nih.gov/variation/v0/beta"
def error(code: str, message: str, warnings: list[str] | None = None) -> dict[str, Any]:
return {
"ok": False,
"error": {"code": code, "message": message},
"warnings": warnings or [],
}
def _compact(value: Any, max_items: int, max_depth: int) -> Any:
if isinstance(value, str):
return value if len(value) <= 240 else value[:240] + "..."
if max_depth <= 0:
if isinstance(value, (dict, list)):
return "..."
return value
if isinstance(value, list):
out = [_compact(item, max_items, max_depth - 1) for item in value[:max_items]]
if len(value) > max_items:
out.append(f"... (+{len(value) - max_items} more)")
return out
if isinstance(value, dict):
out: dict[str, Any] = {}
items = list(value.items())
for key, item in items[:max_items]:
out[str(key)] = _compact(item, max_items, max_depth - 1)
if len(items) > max_items:
out["_truncated_keys"] = len(items) - max_items
return out
return value
def parse_input(payload: Any) -> dict[str, Any]:
if not isinstance(payload, dict):
raise ValueError("Input must be one JSON object.")
action = payload.get("action")
if action not in {"search", "vcv", "rcv", "scv", "refsnp"}:
raise ValueError("`action` must be one of: search, vcv, rcv, scv, refsnp.")
max_items = payload.get("max_items", 5)
max_depth = payload.get("max_depth", 3)
timeout_sec = payload.get("timeout_sec", 30)
save_raw = payload.get("save_raw", False)
for name, value in {
"max_items": max_items,
"max_depth": max_depth,
"timeout_sec": timeout_sec,
}.items():
if not isinstance(value, int) or value <= 0:
raise ValueError(f"`{name}` must be a positive integer.")
if not isinstance(save_raw, bool):
raise ValueError("`save_raw` must be a boolean.")
raw_output_path = payload.get("raw_output_path")
if raw_output_path is not None and (
not isinstance(raw_output_path, str) or not raw_output_path.strip()
):
raise ValueError("`raw_output_path` must be a non-empty string.")
return {
"action": action,
"terms": payload.get("terms"),
"vcv": payload.get("vcv"),
"rcv": payload.get("rcv"),
"scv": payload.get("scv"),
"refsnp": payload.get("refsnp"),
"params": payload.get("params") or {},
"max_items": max_items,
"max_depth": max_depth,
"timeout_sec": timeout_sec,
"save_raw": save_raw,
"raw_output_path": (raw_output_path.strip() if isinstance(raw_output_path, str) else None),
}
def _save(raw_output: str | bytes, raw_output_path: str | None) -> str:
path = Path(raw_output_path or "/tmp/clinvar-variation-raw.json")
path.parent.mkdir(parents=True, exist_ok=True)
raw_bytes = raw_output if isinstance(raw_output, bytes) else raw_output.encode("utf-8")
path.write_bytes(raw_bytes)
return str(path)
def execute(payload: Any) -> dict[str, Any]:
if requests is None:
return error("missing_dependency", f"`requests` is required: {REQUESTS_IMPORT_ERROR}")
config = parse_input(payload)
try:
if config["action"] == "search":
if not isinstance(config["terms"], str) or not config["terms"].strip():
raise ValueError("`terms` is required for `search`.")
params = {"terms": config["terms"].strip(), "maxList": config["max_items"]}
if not isinstance(config["params"], dict):
raise ValueError("`params` must be an object.")
params.update(config["params"])
response = requests.get(
CLINICAL_TABLES_URL, params=params, timeout=config["timeout_sec"]
)
response.raise_for_status()
data = response.json()
raw_content = getattr(response, "content", None)
raw_output = (
bytes(raw_content)
if isinstance(raw_content, (bytes, bytearray, memoryview))
else response.text.encode("utf-8")
)
raw_output_path = (
_save(raw_output, config["raw_output_path"]) if config["save_raw"] else None
)
if not isinstance(data, list) or len(data) < 4:
return error(
"invalid_response",
"Clinical Tables response did not match the expected list shape.",
)
total = data[0]
identifiers = data[1] if isinstance(data[1], list) else []
extra_fields = data[2]
display_rows = data[3] if isinstance(data[3], list) else []
records: list[dict[str, Any]] = []
for index, row in enumerate(display_rows[: config["max_items"]]):
record: dict[str, Any] = {
"display_row": _compact(row, config["max_items"], config["max_depth"])
}
identifier = identifiers[index] if index < len(identifiers) else None
if isinstance(identifier, (str, int)):
identifier_text = str(identifier).strip()
if identifier_text.casefold().startswith("rs"):
record["rsid"] = identifier_text
elif identifier_text:
record["variation_id"] = identifier_text
records.append(record)
return apply_source_contract(
{
"ok": True,
"source": "clinvar-clinicaltables",
"action": "search",
"total": total,
"record_count_returned": len(display_rows[: config["max_items"]]),
"record_count_available": len(display_rows),
"truncated": (len(display_rows) < total if isinstance(total, int) else False),
"identifiers": identifiers[: config["max_items"]],
"records": records,
"display_rows": _compact(
display_rows[: config["max_items"]],
config["max_items"],
config["max_depth"],
),
"extra_fields": _compact(
extra_fields, config["max_items"], config["max_depth"]
),
"raw_output_path": raw_output_path,
"warnings": [],
},
"clinvar-variation-skill",
CLINICAL_TABLES_URL,
)
id_key = config["action"]
identifier = config[id_key]
if not isinstance(identifier, (str, int)) or not str(identifier).strip():
raise ValueError(f"`{id_key}` is required for `{config['action']}`.")
if config["action"] == "vcv":
digits = str(identifier).strip().removeprefix("VCV")
path = f"{VARIATION_BASE}/clinvar/variation/{digits}"
elif config["action"] == "rcv":
path = f"{VARIATION_BASE}/clinvar/rcv/{str(identifier).strip()}"
elif config["action"] == "scv":
path = f"{VARIATION_BASE}/clinvar/scv/{str(identifier).strip()}"
else:
digits = str(identifier).strip().lstrip("rs").lstrip("RS")
path = f"{VARIATION_BASE}/refsnp/{digits}"
response = requests.get(path, timeout=config["timeout_sec"])
response.raise_for_status()
data = response.json()
raw_content = getattr(response, "content", None)
raw_output = (
bytes(raw_content)
if isinstance(raw_content, (bytes, bytearray, memoryview))
else response.text.encode("utf-8")
)
raw_output_path = (
_save(raw_output, config["raw_output_path"]) if config["save_raw"] else None
)
return apply_source_contract(
{
"ok": True,
"source": "clinvar-variation",
"action": config["action"],
"summary": _compact(data, config["max_items"], config["max_depth"]),
"top_keys": (list(data)[: config["max_items"]] if isinstance(data, dict) else None),
"raw_output_path": raw_output_path,
"warnings": [],
},
"clinvar-variation-skill",
path,
)
except ValueError as exc:
return error("invalid_input", str(exc))
except requests.RequestException as exc:
return error("network_error", f"ClinVar request failed ({type(exc).__name__}).")
def main() -> int:
try:
payload = json.load(sys.stdin)
except Exception as exc: # noqa: BLE001
sys.stdout.write(json.dumps(error("invalid_json", f"Could not parse JSON input: {exc}")))
return 2
output = execute(payload)
sys.stdout.write(json.dumps(output))
return 0 if output.get("ok") else 1
if __name__ == "__main__":
raise SystemExit(main())
SHA-256: 7da37ad62d193099049d32ff83dec430b8ba7144f1cf200557db4fd050e6d9ce