← Back to variant description

GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 16-1210779-C-G (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1210779&ref=C&alt=G&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "16",
      "pos": 1210779,
      "ref": "C",
      "alt": "G",
      "effect": "splice_region_variant,intron_variant",
      "transcript": "ENST00000569107.6",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "NM_021098.3",
          "protein_id": "NP_066921.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2353,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7062,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8219,
          "mane_select": "ENST00000348261.11",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000348261.11",
          "protein_id": "ENSP00000334198.7",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2353,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7062,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8219,
          "mane_select": "NM_021098.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000569107.6",
          "protein_id": "ENSP00000454990.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2358,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7077,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7550,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000711493.1",
          "protein_id": "ENSP00000518778.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2348,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7047,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8198,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000565831.7",
          "protein_id": "ENSP00000455840.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2347,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7044,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8196,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000711450.1",
          "protein_id": "ENSP00000518762.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2347,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7044,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8201,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000564231.6",
          "protein_id": "ENSP00000457555.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2342,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7029,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10507,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4000-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000638323.1",
          "protein_id": "ENSP00000492267.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8048,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000562079.6",
          "protein_id": "ENSP00000454581.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2336,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7011,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8162,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4000-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000711438.1",
          "protein_id": "ENSP00000518754.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2334,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7005,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10289,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000711482.1",
          "protein_id": "ENSP00000518771.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2137,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6414,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8108,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000711485.1",
          "protein_id": "ENSP00000518774.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2120,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6363,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8065,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000711455.1",
          "protein_id": "ENSP00000518768.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2111,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6336,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8027,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000711483.1",
          "protein_id": "ENSP00000518772.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2087,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6264,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8401,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000711456.1",
          "protein_id": "ENSP00000518769.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1974,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5925,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8062,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "n.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000621827.2",
          "protein_id": "ENSP00000518766.1",
          "transcript_support_level": 6,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7899,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "n.*9-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000637236.3",
          "protein_id": "ENSP00000492650.2",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8222,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "n.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000639478.1",
          "protein_id": "ENSP00000491945.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7992,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "n.*1952-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000640028.1",
          "protein_id": "ENSP00000491488.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7375,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": 19,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "n.*3486-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000711442.1",
          "protein_id": "ENSP00000518758.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7854,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "n.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000711448.1",
          "protein_id": "ENSP00000518760.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8394,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "n.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000711449.1",
          "protein_id": "ENSP00000518761.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8316,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "n.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000711451.1",
          "protein_id": "ENSP00000518763.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8878,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "n.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000711452.1",
          "protein_id": "ENSP00000518764.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8338,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "n.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000711453.1",
          "protein_id": "ENSP00000518765.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8218,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "n.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000711484.1",
          "protein_id": "ENSP00000518773.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7992,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 37,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "n.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000711486.1",
          "protein_id": "ENSP00000518775.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 9998,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 36,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "n.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000711487.1",
          "protein_id": "ENSP00000518776.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 10418,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "n.4039-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000711488.1",
          "protein_id": "ENSP00000518777.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8382,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "NM_001005407.2",
          "protein_id": "NP_001005407.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2347,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7044,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8201,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": 15,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.3259-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000711447.1",
          "protein_id": "ENSP00000518759.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2087,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6264,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7367,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "n.45-8C>G",
          "hgvs_p": null,
          "transcript": "ENST00000569953.2",
          "protein_id": null,
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 510,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "XM_006720963.4",
          "protein_id": "XP_006721026.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2358,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7077,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8234,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "XM_005255652.5",
          "protein_id": "XP_005255709.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2347,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7044,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8201,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4000-8C>G",
          "hgvs_p": null,
          "transcript": "XM_017023819.2",
          "protein_id": "XP_016879308.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2345,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7038,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8195,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 35,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "XM_006720964.4",
          "protein_id": "XP_006721027.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2342,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7029,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8186,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "XM_006720965.4",
          "protein_id": "XP_006721028.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2336,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 7011,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8168,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 31,
          "intron_rank": 17,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.3493-8C>G",
          "hgvs_p": null,
          "transcript": "XM_011522724.3",
          "protein_id": "XP_011521026.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2176,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6531,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7394,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 34,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "XM_047434836.1",
          "protein_id": "XP_047290792.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 2092,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 6279,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8412,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 29,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "XM_017023820.2",
          "protein_id": "XP_016879309.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1691,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5076,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5590,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "XM_017023821.2",
          "protein_id": "XP_016879310.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1691,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 5076,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5501,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 28,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "XM_006720967.4",
          "protein_id": "XP_006721030.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1618,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4857,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5362,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "splice_region_variant",
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 27,
          "intron_rank": 20,
          "intron_rank_end": null,
          "gene_symbol": "CACNA1H",
          "gene_hgnc_id": 1395,
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null,
          "transcript": "XM_006720968.4",
          "protein_id": "XP_006721031.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1612,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 4839,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5344,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "CACNA1H",
      "gene_hgnc_id": 1395,
      "dbsnp": "rs757467258",
      "frequency_reference_population": 6.9095415e-7,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 6.90954e-7,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8999999761581421,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0.08799999952316284,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "dbscSNV1_RF",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.9,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.32,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": 0.0000702404930958872,
      "dbscsnv_ada_prediction": "Benign",
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000569107.6",
          "gene_symbol": "CACNA1H",
          "hgnc_id": 1395,
          "effects": [
            "splice_region_variant",
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.4039-8C>G",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}