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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: 3-43549829-C-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=43549829&ref=C&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 43549829,
      "ref": "C",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_001346464.2",
      "consequences": [
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO10",
          "gene_hgnc_id": 25519,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "NM_018075.5",
          "protein_id": "NP_060545.3",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 660,
          "cds_start": 1688,
          "cds_end": null,
          "cds_length": 1983,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000292246.8",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_018075.5"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO10",
          "gene_hgnc_id": 25519,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000292246.8",
          "protein_id": "ENSP00000292246.3",
          "transcript_support_level": 1,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 660,
          "cds_start": 1688,
          "cds_end": null,
          "cds_length": 1983,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_018075.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000292246.8"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO10",
          "gene_hgnc_id": 25519,
          "hgvs_c": "c.1118G>A",
          "hgvs_p": "p.Ser373Asn",
          "transcript": "ENST00000350459.8",
          "protein_id": "ENSP00000327767.4",
          "transcript_support_level": 1,
          "aa_start": 373,
          "aa_end": null,
          "aa_length": 470,
          "cds_start": 1118,
          "cds_end": null,
          "cds_length": 1413,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000350459.8"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO10",
          "gene_hgnc_id": 25519,
          "hgvs_c": "c.1772G>A",
          "hgvs_p": "p.Ser591Asn",
          "transcript": "ENST00000970566.1",
          "protein_id": "ENSP00000640625.1",
          "transcript_support_level": null,
          "aa_start": 591,
          "aa_end": null,
          "aa_length": 711,
          "cds_start": 1772,
          "cds_end": null,
          "cds_length": 2136,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000970566.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO10",
          "gene_hgnc_id": 25519,
          "hgvs_c": "c.1805G>A",
          "hgvs_p": "p.Ser602Asn",
          "transcript": "NM_001346464.2",
          "protein_id": "NP_001333393.1",
          "transcript_support_level": null,
          "aa_start": 602,
          "aa_end": null,
          "aa_length": 699,
          "cds_start": 1805,
          "cds_end": null,
          "cds_length": 2100,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001346464.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO10",
          "gene_hgnc_id": 25519,
          "hgvs_c": "c.1805G>A",
          "hgvs_p": "p.Ser602Asn",
          "transcript": "NM_001346467.2",
          "protein_id": "NP_001333396.1",
          "transcript_support_level": null,
          "aa_start": 602,
          "aa_end": null,
          "aa_length": 699,
          "cds_start": 1805,
          "cds_end": null,
          "cds_length": 2100,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001346467.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO10",
          "gene_hgnc_id": 25519,
          "hgvs_c": "c.1772G>A",
          "hgvs_p": "p.Ser591Asn",
          "transcript": "ENST00000920383.1",
          "protein_id": "ENSP00000590442.1",
          "transcript_support_level": null,
          "aa_start": 591,
          "aa_end": null,
          "aa_length": 688,
          "cds_start": 1772,
          "cds_end": null,
          "cds_length": 2067,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000920383.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO10",
          "gene_hgnc_id": 25519,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000910683.1",
          "protein_id": "ENSP00000580742.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 683,
          "cds_start": 1688,
          "cds_end": null,
          "cds_length": 2052,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000910683.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO10",
          "gene_hgnc_id": 25519,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000910688.1",
          "protein_id": "ENSP00000580747.1",
          "transcript_support_level": null,
          "aa_start": 563,
          "aa_end": null,
          "aa_length": 675,
          "cds_start": 1688,
          "cds_end": null,
          "cds_length": 2028,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000910688.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO10",
          "gene_hgnc_id": 25519,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000970567.1",
          "protein_id": "ENSP00000640626.1",
          "transcript_support_level": null,
          "aa_start": 563,
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          "aa_length": 671,
          "cds_start": 1688,
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          "cds_length": 2016,
          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000970567.1"
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        {
          "aa_ref": "S",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO10",
          "gene_hgnc_id": 25519,
          "hgvs_c": "c.1718G>A",
          "hgvs_p": "p.Ser573Asn",
          "transcript": "ENST00000920386.1",
          "protein_id": "ENSP00000590445.1",
          "transcript_support_level": null,
          "aa_start": 573,
          "aa_end": null,
          "aa_length": 670,
          "cds_start": 1718,
          "cds_end": null,
          "cds_length": 2013,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000920386.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
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          "exon_count": 13,
          "intron_rank": null,
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          "gene_symbol": "ANO10",
          "gene_hgnc_id": 25519,
          "hgvs_c": "c.1805G>A",
          "hgvs_p": "p.Ser602Asn",
          "transcript": "NM_001346463.2",
          "protein_id": "NP_001333392.1",
          "transcript_support_level": null,
          "aa_start": 602,
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          "cds_start": 1805,
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          "cdna_start": null,
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        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ANO10",
          "gene_hgnc_id": 25519,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "NM_001346468.2",
          "protein_id": "NP_001333397.1",
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          "cds_start": 1688,
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          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "NM_001346468.2"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO10",
          "gene_hgnc_id": 25519,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000910680.1",
          "protein_id": "ENSP00000580739.1",
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        {
          "aa_ref": "S",
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ANO10",
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          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000910681.1",
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          "biotype": "protein_coding",
          "feature": "ENST00000910681.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
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          "gene_symbol": "ANO10",
          "gene_hgnc_id": 25519,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000910682.1",
          "protein_id": "ENSP00000580741.1",
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        {
          "aa_ref": "S",
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ANO10",
          "gene_hgnc_id": 25519,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000910692.1",
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        {
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          "transcript": "ENST00000920381.1",
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        {
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          "transcript": "ENST00000920390.1",
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          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000920390.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO10",
          "gene_hgnc_id": 25519,
          "hgvs_c": "c.1688G>A",
          "hgvs_p": "p.Ser563Asn",
          "transcript": "ENST00000920391.1",
          "protein_id": "ENSP00000590450.1",
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          "aa_start": 563,
          "aa_end": null,
          "aa_length": 602,
          "cds_start": 1688,
          "cds_end": null,
          "cds_length": 1809,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047448431.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO10",
          "gene_hgnc_id": 25519,
          "hgvs_c": "c.1490G>A",
          "hgvs_p": "p.Ser497Asn",
          "transcript": "XM_047448432.1",
          "protein_id": "XP_047304388.1",
          "transcript_support_level": null,
          "aa_start": 497,
          "aa_end": null,
          "aa_length": 558,
          "cds_start": 1490,
          "cds_end": null,
          "cds_length": 1677,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047448432.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO10",
          "gene_hgnc_id": 25519,
          "hgvs_c": "c.1490G>A",
          "hgvs_p": "p.Ser497Asn",
          "transcript": "XM_047448434.1",
          "protein_id": "XP_047304390.1",
          "transcript_support_level": null,
          "aa_start": 497,
          "aa_end": null,
          "aa_length": 540,
          "cds_start": 1490,
          "cds_end": null,
          "cds_length": 1623,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047448434.1"
        },
        {
          "aa_ref": "S",
          "aa_alt": "N",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO10",
          "gene_hgnc_id": 25519,
          "hgvs_c": "c.1490G>A",
          "hgvs_p": "p.Ser497Asn",
          "transcript": "XM_047448435.1",
          "protein_id": "XP_047304391.1",
          "transcript_support_level": null,
          "aa_start": 497,
          "aa_end": null,
          "aa_length": 536,
          "cds_start": 1490,
          "cds_end": null,
          "cds_length": 1611,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047448435.1"
        }
      ],
      "gene_symbol": "ANO10",
      "gene_hgnc_id": 25519,
      "dbsnp": "rs1553709113",
      "frequency_reference_population": null,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 0,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.7795965075492859,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.267,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.7061,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.28,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 4.605,
      "phylop100way_prediction": "Uncertain_significance",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": 3,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP3",
      "acmg_by_gene": [
        {
          "score": 3,
          "benign_score": 0,
          "pathogenic_score": 3,
          "criteria": [
            "PM2",
            "PP3"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001346464.2",
          "gene_symbol": "ANO10",
          "hgnc_id": 25519,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1805G>A",
          "hgvs_p": "p.Ser602Asn"
        }
      ],
      "clinvar_disease": "Inborn genetic diseases,not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "US:2",
      "phenotype_combined": "not specified|Inborn genetic diseases",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}