ClinVar Annotations

ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. It facilitates access to and communication about the relationships asserted between human variation and observed health status, and the history of that interpretation. It provides access to a broader set of clinical interpretations that can be incorporated into genomics workflows and applications.

For more information on the data, see the Data Dictionary and FAQ.


Microsoft provides Azure Open Datasets on an “as is” basis. Microsoft makes no warranties, express or implied, guarantees or conditions with respect to your use of the datasets. To the extent permitted under your local law, Microsoft disclaims all liability for any damages or losses, including direct, consequential, special, indirect, incidental or punitive, resulting from your use of the datasets.

This dataset is provided under the original terms that Microsoft received source data. The dataset may include data sourced from Microsoft.

Data source

This dataset is a mirror of

Data volumes and update frequency

This dataset contains approximately 56 GB of data and is updated daily.

Storage location

This dataset is stored in the West US 2 and West Central US Azure regions. Allocating compute resources in West US 2 or West Central US is recommended for affinity.

Data Access

West US 2: ''

West Central US: ''

SAS Token: sv=2019-02-02&se=2050-01-01T08%3A00%3A00Z&si=prod&sr=c&sig=qFPPwPba1RmBvaffkzkLuzabYU5dZstSTgMwxuLNME8%3D

Use Terms

Data is available without restrictions. More information and citation details, see Accessing and using data in ClinVar.


For any questions or feedback about this dataset, contact

Data access

Azure Notebooks

Getting the ClinVar data from Azure Open Dataset

Several public genomics data has been uploaded as an Azure Open Dataset here. We create a blob service linked to this open dataset. You can find examples of data calling procedure from Azure Open Dataset for ClinVar dataset in below:

Users can call and download the following path with this notebook: ''


Users needs to log-in their Azure Account via Azure CLI for viewing the data with Azure ML SDK. On the other hand, they do not need do any actions for downloading the data.

For more information on installing the Azure CLI, see Install the Azure CLI

Calling the data from 'ClinVar Data Set'

import azureml.core
print("Azure ML SDK Version: ", azureml.core.VERSION)
from azureml.core import  Dataset
reference_dataset = Dataset.File.from_files('')
mount = reference_dataset.mount()
import os

REF_DIR = '/dataset'
path = mount.mount_point + REF_DIR

with mount:
import pandas as pd

# create mount context

# specify path to README file
REF_DIR = '/dataset'
metadata_filename = '{}/{}/{}'.format(mount.mount_point, REF_DIR, '_README')

# read README file
metadata = pd.read_table(metadata_filename)

Download the specific file

import os
import uuid
import sys
from import BlockBlobService, PublicAccess

blob_service_client = BlockBlobService(account_name='datasetclinvar', sas_token='sv=2019-02-02&se=2050-01-01T08%3A00%3A00Z&si=prod&sr=c&sig=qFPPwPba1RmBvaffkzkLuzabYU5dZstSTgMwxuLNME8%3D')     
blob_service_client.get_blob_to_path('dataset', 'ClinVarFullRelease_00-latest.xml.gz.md5', './ClinVarFullRelease_00-latest.xml.gz.md5')

Next steps

View the rest of the datasets in the Open Datasets catalog.