MobiDetails is a webapp which intends to aggregate data on DNA variants in order to help with their interpretation.
It consists in a website where users can easily create variants and retrieve many information.
It also includes an API for programmatic access.
https://mobidetails.iurc.montp.inserm.fr/MD/
Access to the Swagger API:
http://mobidetails.iurc.montp.inserm.fr/MDAPI/
Please cite:
Baux, D., Van Goethem, C., Ardouin, O. et al. MobiDetails: online DNA variants interpretation. Eur J Hum Genet (2020).
MobiDetails includes an implementation of SpliceAI-visual, that can be specifically cited:
De Sainte Agathe, J-M., Filser, M. at al. SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation. Hum genomics (2023).
Animated gif by Char-Al.