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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: 18-31069144-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=31069144&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "18",
      "pos": 31069144,
      "ref": "G",
      "alt": "A",
      "effect": "missense_variant",
      "transcript": "ENST00000280904.11",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "c.2258C>T",
          "hgvs_p": "p.Ala753Val",
          "transcript": "NM_024422.6",
          "protein_id": "NP_077740.1",
          "transcript_support_level": null,
          "aa_start": 753,
          "aa_end": null,
          "aa_length": 901,
          "cds_start": 2258,
          "cds_end": null,
          "cds_length": 2706,
          "cdna_start": 2708,
          "cdna_end": null,
          "cdna_length": 12331,
          "mane_select": "ENST00000280904.11",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "c.2258C>T",
          "hgvs_p": "p.Ala753Val",
          "transcript": "ENST00000280904.11",
          "protein_id": "ENSP00000280904.6",
          "transcript_support_level": 1,
          "aa_start": 753,
          "aa_end": null,
          "aa_length": 901,
          "cds_start": 2258,
          "cds_end": null,
          "cds_length": 2706,
          "cdna_start": 2708,
          "cdna_end": null,
          "cdna_length": 12331,
          "mane_select": "NM_024422.6",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "c.2258C>T",
          "hgvs_p": "p.Ala753Val",
          "transcript": "ENST00000251081.8",
          "protein_id": "ENSP00000251081.6",
          "transcript_support_level": 1,
          "aa_start": 753,
          "aa_end": null,
          "aa_length": 847,
          "cds_start": 2258,
          "cds_end": null,
          "cds_length": 2544,
          "cdna_start": 2708,
          "cdna_end": null,
          "cdna_length": 12377,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "c.2279C>T",
          "hgvs_p": "p.Ala760Val",
          "transcript": "ENST00000713707.1",
          "protein_id": "ENSP00000519010.1",
          "transcript_support_level": null,
          "aa_start": 760,
          "aa_end": null,
          "aa_length": 908,
          "cds_start": 2279,
          "cds_end": null,
          "cds_length": 2727,
          "cdna_start": 2731,
          "cdna_end": null,
          "cdna_length": 5218,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "c.2255C>T",
          "hgvs_p": "p.Ala752Val",
          "transcript": "ENST00000713705.1",
          "protein_id": "ENSP00000519008.1",
          "transcript_support_level": null,
          "aa_start": 752,
          "aa_end": null,
          "aa_length": 900,
          "cds_start": 2255,
          "cds_end": null,
          "cds_length": 2703,
          "cdna_start": 2647,
          "cdna_end": null,
          "cdna_length": 5134,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "c.2249C>T",
          "hgvs_p": "p.Ala750Val",
          "transcript": "ENST00000713702.1",
          "protein_id": "ENSP00000519005.1",
          "transcript_support_level": null,
          "aa_start": 750,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": 2249,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": 2697,
          "cdna_end": null,
          "cdna_length": 5188,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "c.2123C>T",
          "hgvs_p": "p.Ala708Val",
          "transcript": "ENST00000713682.1",
          "protein_id": "ENSP00000518985.1",
          "transcript_support_level": null,
          "aa_start": 708,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": 2123,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": 2584,
          "cdna_end": null,
          "cdna_length": 5071,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "c.2258C>T",
          "hgvs_p": "p.Ala753Val",
          "transcript": "ENST00000713704.1",
          "protein_id": "ENSP00000519007.1",
          "transcript_support_level": null,
          "aa_start": 753,
          "aa_end": null,
          "aa_length": 853,
          "cds_start": 2258,
          "cds_end": null,
          "cds_length": 2562,
          "cdna_start": 2412,
          "cdna_end": null,
          "cdna_length": 4895,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "c.2258C>T",
          "hgvs_p": "p.Ala753Val",
          "transcript": "NM_004949.5",
          "protein_id": "NP_004940.1",
          "transcript_support_level": null,
          "aa_start": 753,
          "aa_end": null,
          "aa_length": 847,
          "cds_start": 2258,
          "cds_end": null,
          "cds_length": 2544,
          "cdna_start": 2708,
          "cdna_end": null,
          "cdna_length": 12377,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "c.2249C>T",
          "hgvs_p": "p.Ala750Val",
          "transcript": "ENST00000713706.1",
          "protein_id": "ENSP00000519009.1",
          "transcript_support_level": null,
          "aa_start": 750,
          "aa_end": null,
          "aa_length": 844,
          "cds_start": 2249,
          "cds_end": null,
          "cds_length": 2535,
          "cdna_start": 2697,
          "cdna_end": null,
          "cdna_length": 5230,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "c.2258C>T",
          "hgvs_p": "p.Ala753Val",
          "transcript": "ENST00000713722.1",
          "protein_id": "ENSP00000519025.1",
          "transcript_support_level": null,
          "aa_start": 753,
          "aa_end": null,
          "aa_length": 839,
          "cds_start": 2258,
          "cds_end": null,
          "cds_length": 2520,
          "cdna_start": 2687,
          "cdna_end": null,
          "cdna_length": 5169,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "c.2249C>T",
          "hgvs_p": "p.Ala750Val",
          "transcript": "ENST00000713703.1",
          "protein_id": "ENSP00000519006.1",
          "transcript_support_level": null,
          "aa_start": 750,
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          "cds_start": 2249,
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          "cds_length": 2511,
          "cdna_start": 2702,
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          "cdna_length": 5188,
          "mane_select": null,
          "mane_plus": null,
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        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "c.2033C>T",
          "hgvs_p": "p.Ala678Val",
          "transcript": "ENST00000713720.1",
          "protein_id": "ENSP00000519023.1",
          "transcript_support_level": null,
          "aa_start": 678,
          "aa_end": null,
          "aa_length": 772,
          "cds_start": 2033,
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          "cds_length": 2319,
          "cdna_start": 2495,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "c.1829C>T",
          "hgvs_p": "p.Ala610Val",
          "transcript": "NM_001406506.1",
          "protein_id": "NP_001393435.1",
          "transcript_support_level": null,
          "aa_start": 610,
          "aa_end": null,
          "aa_length": 758,
          "cds_start": 1829,
          "cds_end": null,
          "cds_length": 2277,
          "cdna_start": 2229,
          "cdna_end": null,
          "cdna_length": 11852,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
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          "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": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "c.1829C>T",
          "hgvs_p": "p.Ala610Val",
          "transcript": "ENST00000648081.1",
          "protein_id": "ENSP00000497441.1",
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          "cdna_start": 2313,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "c.1829C>T",
          "hgvs_p": "p.Ala610Val",
          "transcript": "ENST00000682357.1",
          "protein_id": "ENSP00000507826.1",
          "transcript_support_level": null,
          "aa_start": 610,
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          "cdna_start": 2257,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "c.1829C>T",
          "hgvs_p": "p.Ala610Val",
          "transcript": "ENST00000713681.1",
          "protein_id": "ENSP00000518984.1",
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          "cds_start": 1829,
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          "cdna_start": 2323,
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        },
        {
          "aa_ref": "A",
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          ],
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          "intron_rank": null,
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          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
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          "transcript": "ENST00000713683.1",
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        },
        {
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          "protein_coding": true,
          "strand": false,
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          ],
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          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "c.1829C>T",
          "hgvs_p": "p.Ala610Val",
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          "feature": null
        },
        {
          "aa_ref": "A",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "c.1829C>T",
          "hgvs_p": "p.Ala610Val",
          "transcript": "ENST00000713721.1",
          "protein_id": "ENSP00000519024.1",
          "transcript_support_level": null,
          "aa_start": 610,
          "aa_end": null,
          "aa_length": 758,
          "cds_start": 1829,
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          "cds_length": 2277,
          "cdna_start": 2234,
          "cdna_end": null,
          "cdna_length": 4721,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "A",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
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        },
        {
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          "hgvs_c": "c.1697C>T",
          "hgvs_p": "p.Ala566Val",
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          "transcript": "NM_001406507.1",
          "protein_id": "NP_001393436.1",
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          "exon_count": 17,
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          "gene_symbol": "DSC2",
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          "hgvs_c": "c.1829C>T",
          "hgvs_p": "p.Ala610Val",
          "transcript": "ENST00000713709.1",
          "protein_id": "ENSP00000519012.1",
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          "cds_start": 1829,
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        },
        {
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          "protein_coding": false,
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          "consequences": [
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          "gene_symbol": "DSC2",
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          "hgvs_c": "n.*915C>T",
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          "transcript": "ENST00000713708.1",
          "protein_id": "ENSP00000519011.1",
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        },
        {
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          "protein_coding": false,
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          "consequences": [
            "non_coding_transcript_exon_variant"
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          "exon_rank": 16,
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          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "DSC2",
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          "hgvs_c": "n.*1881C>T",
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          "transcript": "ENST00000850651.1",
          "protein_id": "ENSP00000518989.1",
          "transcript_support_level": null,
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          "cdna_length": 3003,
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        },
        {
          "aa_ref": null,
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          "protein_coding": false,
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          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
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          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "n.*915C>T",
          "hgvs_p": null,
          "transcript": "ENST00000713708.1",
          "protein_id": "ENSP00000519011.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cdna_start": null,
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          "cdna_length": 4700,
          "mane_select": null,
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        },
        {
          "aa_ref": null,
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          "protein_coding": false,
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          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": null,
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          "gene_symbol": "DSC2",
          "gene_hgnc_id": 3036,
          "hgvs_c": "n.*1881C>T",
          "hgvs_p": null,
          "transcript": "ENST00000850651.1",
          "protein_id": "ENSP00000518989.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3003,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "DSC2",
      "gene_hgnc_id": 3036,
      "dbsnp": "rs1217851416",
      "frequency_reference_population": 0.000009294037,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 15,
      "gnomad_exomes_af": 0.00000957722,
      "gnomad_genomes_af": 0.00000657307,
      "gnomad_exomes_ac": 14,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.07193788886070251,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0.03999999910593033,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.063,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.0949,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.54,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.747,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": 0.04,
      "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": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 2,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Moderate"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000280904.11",
          "gene_symbol": "DSC2",
          "hgnc_id": 3036,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR,AD,SD",
          "hgvs_c": "c.2258C>T",
          "hgvs_p": "p.Ala753Val"
        }
      ],
      "clinvar_disease": "Arrhythmogenic right ventricular dysplasia 11,Cardiomyopathy,Cardiovascular phenotype,Familial isolated arrhythmogenic right ventricular dysplasia,not provided",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "US:6",
      "phenotype_combined": "Arrhythmogenic right ventricular dysplasia 11|Cardiomyopathy|Cardiovascular phenotype|not provided|Familial isolated arrhythmogenic right ventricular dysplasia",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}