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ClinGen API platform for classification of human genetic variants.

Cell genomics - 8 Apr 2026

Shah Neethu, Farris Tierra, Zuniga Arturo Alejandro, Jackson Andrew R, Arce Jessie, Riehle Kevin, Preston Christine G, Mandell Mark E, Wulf Bryan, Cheung Gloria, Yu Keyang, Ritter Deborah I, Jevtic Dubravka, Milinkov Miroslav, Martinovic Novak, Vucinic Nevena, Mihajlovic Aleksandar, Rubin Alan F, Cline Melissa S, Distefano Marina, Griffith Malachi, Griffith Obi L, Wright Matt W, Klein Teri E, Plon Sharon E, Milosavljevic Aleksandar

Abstract excerpt

In this commentary, we describe how the Clinical Genome Resource's (ClinGen's) application programming interface-based microservices accelerate growth and dissemination of knowledge about human genetic variation. By exposing findable, accessible, interoperable, reusable, and AI-ready variant data, ClinGen lays a foundation for next-generation software applications, AI systems, and variant classification workflows.

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Identifiers

PMID: 41956073
DOI: 10.1016/j.xgen.2026.101211
PMCID: PMC13069835

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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