ClinGen API Platform for Classification of Human Genetic Variants

Authors

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

Language

English

Publication Date

4-8-2026

Journal

Cell Genomics

DOI

10.1016/j.xgen.2026.101211

PMID

41956073

PMCID

PMC13069835

PubMedCentral® Posted Date

4-8-2026

PubMedCentral® Full Text Version

Post-print

Abstract

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.

Keywords

Humans, Genetic Variation, Software, Genome, Human, Databases, Genetic, Genomics

Published Open-Access

yes

Recommended Citation

Shah, Neethu; Farris, Tierra; Zuniga, Arturo Alejandro; et al., "ClinGen API Platform for Classification of Human Genetic Variants" (2026). Faculty, Staff and Students Publications. 7151.
https://digitalcommons.library.tmc.edu/baylor_docs/7151