We present GeneBe, an online platform streamlining the automated application of American College of Medical Genetics and Genomics (ACMG), Association for Molecular Pathology (AMP), and the College of American Pathologists (CAP) criteria for assessment of pathogenicity of genetic variants. GeneBe utilizes automated algorithms that evaluate 17 criteria from 28, closely aligning with current guidelines and leveraging data from diverse sources, including ClinVar. The user‐friendly web interface enables manual refinement of assignments for specific criteria based on site‐collected data. Our algorithm demonstrates a high correlation (r = 0.90) of assigned pathogenicity scores compared to expert assessments from the ClinGen Evidence Repository and substantial concordance with ClinVar verdict assignments (κ = 0.69). Comparative analysis with other published tools reveals that GeneBe performs similarly to VarSome while being superior over TAPES and InterVar. In contrast to some other tools, GeneBe's web implementation is tracker‐free and third‐party request‐free, safeguarding user privacy. Additionally, GeneBe offers an Application Programming Interface (API) for enhanced flexibility and integration into existing workflows and is provided free of charge for research purposes. GeneBe is available at https://genebe.net.

中文翻译：

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Genebe.net：自动 ACMG 变异致病性标准分配的实施和验证

我们推出 GeneBe，这是一个在线平台，它简化了美国医学遗传学和基因组学学院 (ACMG)、分子病理学协会 (AMP) 和美国病理学家学会 (CAP) 遗传变异致病性评估标准的自动化应用。GeneBe 利用自动化算法评估 28 项标准中的 17 项，与当前指南紧密结合，并利用来自不同来源（包括 ClinVar）的数据。用户友好的网络界面可以根据站点收集的数据手动细化特定标准的分配。我们的算法表现出高度相关性（r= 0.90) 指定的致病性评分与 ClinGen 证据库的专家评估相比，并且与 ClinVar 判决分配基本一致 (κ= 0.69）。与其他已发布工具的比较分析表明，GeneBe 的性能与 VarSome 类似，但优于 TAPES 和 InterVar。与其他一些工具相比，GeneBe 的网络实施无需跟踪器且无需第三方请求，从而保护了用户隐私。此外，GeneBe 还提供应用程序编程接口 (API)，以增强灵活性并集成到现有工作流程中，并且免费提供用于研究目的。GeneBe 可以在https://genebe.net。