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Research tool·genomics·mavedb

MaveDB Get Clinical Controls

Get clinical-control variants (ClinVar pathogenic/benign/VUS) that overlap a MaveDB score set, used to calibrate MAVE functional scores into clinically-interpretable thresholds. Returns ClinVar entries with dbIdentifier, gene symbol, clinical significance (e.g. 'Uncertain significance', 'Pathogenic'), review status, ClinVar version (e.g. '01_2025'), and the MaveDB variant URN(s) sharing the same genomic coordinate. Optionally filter by clinical_significance. This is the reference set for buildi…

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Overview

Get clinical-control variants (ClinVar pathogenic/benign/VUS) that overlap a MaveDB score set, used to calibrate MAVE functional scores into clinically-interpretable thresholds. Returns ClinVar entries with dbIdentifier, gene symbol, clinical significance (e.g. 'Uncertain significance', 'Pathogenic'), review status, ClinVar version (e.g. '01_2025'), and the MaveDB variant URN(s) sharing the same genomic coordinate. Optionally filter by clinical_significance. This is the reference set for building functional-score evidence (e.g. ACMG PS3/BS3). Obtain the URN from MaveDB_search_score_sets.

Schema

JSON Schema the agent (or your API call) must match.

JSON · 27 lines · 733 chars

Examples (1)

Default MaveDB Get Clinical Controls call

public-safeinput
JSON · 5 lines · 93 chars
Expected response keys: success

Anonymous-safe example. Rate-limited; no sign-in required.

Identifiers

Catalog ID
tu_MaveDB_get_clinical_controls
Tool name
MaveDB_get_clinical_controls
Added
2026-07-29 18:13Z
Tags
tooluniverse
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