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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: 11-22262968-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=22262968&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 22262968,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "ENST00000324559.9",
      "consequences": [
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "c.1823T>C",
          "hgvs_p": "p.Ile608Thr",
          "transcript": "NM_213599.3",
          "protein_id": "NP_998764.1",
          "transcript_support_level": null,
          "aa_start": 608,
          "aa_end": null,
          "aa_length": 913,
          "cds_start": 1823,
          "cds_end": null,
          "cds_length": 2742,
          "cdna_start": 2231,
          "cdna_end": null,
          "cdna_length": 6742,
          "mane_select": "ENST00000324559.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "c.1823T>C",
          "hgvs_p": "p.Ile608Thr",
          "transcript": "ENST00000324559.9",
          "protein_id": "ENSP00000315371.9",
          "transcript_support_level": 1,
          "aa_start": 608,
          "aa_end": null,
          "aa_length": 913,
          "cds_start": 1823,
          "cds_end": null,
          "cds_length": 2742,
          "cdna_start": 2231,
          "cdna_end": null,
          "cdna_length": 6742,
          "mane_select": "NM_213599.3",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "c.1820T>C",
          "hgvs_p": "p.Ile607Thr",
          "transcript": "NM_001142649.2",
          "protein_id": "NP_001136121.1",
          "transcript_support_level": null,
          "aa_start": 607,
          "aa_end": null,
          "aa_length": 912,
          "cds_start": 1820,
          "cds_end": null,
          "cds_length": 2739,
          "cdna_start": 2228,
          "cdna_end": null,
          "cdna_length": 6739,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "c.1781T>C",
          "hgvs_p": "p.Ile594Thr",
          "transcript": "NM_001410963.1",
          "protein_id": "NP_001397892.1",
          "transcript_support_level": null,
          "aa_start": 594,
          "aa_end": null,
          "aa_length": 899,
          "cds_start": 1781,
          "cds_end": null,
          "cds_length": 2700,
          "cdna_start": 2189,
          "cdna_end": null,
          "cdna_length": 6700,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "c.1781T>C",
          "hgvs_p": "p.Ile594Thr",
          "transcript": "ENST00000682341.1",
          "protein_id": "ENSP00000508251.1",
          "transcript_support_level": null,
          "aa_start": 594,
          "aa_end": null,
          "aa_length": 899,
          "cds_start": 1781,
          "cds_end": null,
          "cds_length": 2700,
          "cdna_start": 2241,
          "cdna_end": null,
          "cdna_length": 6739,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "c.1778T>C",
          "hgvs_p": "p.Ile593Thr",
          "transcript": "NM_001410964.1",
          "protein_id": "NP_001397893.1",
          "transcript_support_level": null,
          "aa_start": 593,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": 1778,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": 2186,
          "cdna_end": null,
          "cdna_length": 6697,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "c.1778T>C",
          "hgvs_p": "p.Ile593Thr",
          "transcript": "ENST00000684663.1",
          "protein_id": "ENSP00000508009.1",
          "transcript_support_level": null,
          "aa_start": 593,
          "aa_end": null,
          "aa_length": 898,
          "cds_start": 1778,
          "cds_end": null,
          "cds_length": 2697,
          "cdna_start": 2226,
          "cdna_end": null,
          "cdna_length": 6947,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "c.1745T>C",
          "hgvs_p": "p.Ile582Thr",
          "transcript": "NM_001441294.1",
          "protein_id": "NP_001428223.1",
          "transcript_support_level": null,
          "aa_start": 582,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": 1745,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": 2058,
          "cdna_end": null,
          "cdna_length": 6569,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "c.1742T>C",
          "hgvs_p": "p.Ile581Thr",
          "transcript": "NM_001441295.1",
          "protein_id": "NP_001428224.1",
          "transcript_support_level": null,
          "aa_start": 581,
          "aa_end": null,
          "aa_length": 886,
          "cds_start": 1742,
          "cds_end": null,
          "cds_length": 2661,
          "cdna_start": 2055,
          "cdna_end": null,
          "cdna_length": 6566,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "c.1730T>C",
          "hgvs_p": "p.Ile577Thr",
          "transcript": "NM_001441296.1",
          "protein_id": "NP_001428225.1",
          "transcript_support_level": null,
          "aa_start": 577,
          "aa_end": null,
          "aa_length": 882,
          "cds_start": 1730,
          "cds_end": null,
          "cds_length": 2649,
          "cdna_start": 2138,
          "cdna_end": null,
          "cdna_length": 6649,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "c.1703T>C",
          "hgvs_p": "p.Ile568Thr",
          "transcript": "NM_001441297.1",
          "protein_id": "NP_001428226.1",
          "transcript_support_level": null,
          "aa_start": 568,
          "aa_end": null,
          "aa_length": 873,
          "cds_start": 1703,
          "cds_end": null,
          "cds_length": 2622,
          "cdna_start": 2016,
          "cdna_end": null,
          "cdna_length": 6527,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "c.1667T>C",
          "hgvs_p": "p.Ile556Thr",
          "transcript": "NM_001441298.1",
          "protein_id": "NP_001428227.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 861,
          "cds_start": 1667,
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          "cdna_start": 2075,
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          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": "I",
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          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
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          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "c.1664T>C",
          "hgvs_p": "p.Ile555Thr",
          "transcript": "NM_001441299.1",
          "protein_id": "NP_001428228.1",
          "transcript_support_level": null,
          "aa_start": 555,
          "aa_end": null,
          "aa_length": 860,
          "cds_start": 1664,
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          "cdna_start": 2072,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "I",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "c.1781T>C",
          "hgvs_p": "p.Ile594Thr",
          "transcript": "ENST00000683197.1",
          "protein_id": "ENSP00000507641.1",
          "transcript_support_level": null,
          "aa_start": 594,
          "aa_end": null,
          "aa_length": 795,
          "cds_start": 1781,
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          "cdna_start": 2099,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "I",
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          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "c.1388T>C",
          "hgvs_p": "p.Ile463Thr",
          "transcript": "NM_001441300.1",
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          "transcript_support_level": null,
          "aa_start": 463,
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          "cdna_start": 1796,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
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          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 19,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "c.1385T>C",
          "hgvs_p": "p.Ile462Thr",
          "transcript": "NM_001441301.1",
          "protein_id": "NP_001428230.1",
          "transcript_support_level": null,
          "aa_start": 462,
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          "aa_length": 767,
          "cds_start": 1385,
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          "mane_select": null,
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          "feature": null
        },
        {
          "aa_ref": "I",
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          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
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          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "c.1373T>C",
          "hgvs_p": "p.Ile458Thr",
          "transcript": "ENST00000682266.1",
          "protein_id": "ENSP00000507766.1",
          "transcript_support_level": null,
          "aa_start": 458,
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          "cds_start": 1373,
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        },
        {
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          "intron_rank": null,
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          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "c.1373T>C",
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          "transcript": "ENST00000683411.1",
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        },
        {
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          ],
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          "gene_symbol": "ANO5",
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          "hgvs_p": "p.Ile458Thr",
          "transcript": "ENST00000683437.1",
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          "feature": null
        },
        {
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          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "c.1337T>C",
          "hgvs_p": "p.Ile446Thr",
          "transcript": "NM_001441302.1",
          "protein_id": "NP_001428231.1",
          "transcript_support_level": null,
          "aa_start": 446,
          "aa_end": null,
          "aa_length": 751,
          "cds_start": 1337,
          "cds_end": null,
          "cds_length": 2256,
          "cdna_start": 1745,
          "cdna_end": null,
          "cdna_length": 6256,
          "mane_select": null,
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          "biotype": null,
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        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
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          "intron_rank": null,
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          "hgvs_c": "c.1745T>C",
          "hgvs_p": "p.Ile582Thr",
          "transcript": "XM_005252822.5",
          "protein_id": "XP_005252879.1",
          "transcript_support_level": null,
          "aa_start": 582,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": 1745,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": 2037,
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          "cdna_length": 6548,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "T",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "c.1742T>C",
          "hgvs_p": "p.Ile581Thr",
          "transcript": "XM_047426522.1",
          "protein_id": "XP_047282478.1",
          "transcript_support_level": null,
          "aa_start": 581,
          "aa_end": null,
          "aa_length": 886,
          "cds_start": 1742,
          "cds_end": null,
          "cds_length": 2661,
          "cdna_start": 2034,
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          "cdna_length": 6545,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 19,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "n.2158T>C",
          "hgvs_p": null,
          "transcript": "ENST00000648804.1",
          "protein_id": null,
          "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": 6656,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 18,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "ANO5",
          "gene_hgnc_id": 27337,
          "hgvs_c": "n.2817T>C",
          "hgvs_p": null,
          "transcript": "ENST00000683613.1",
          "protein_id": null,
          "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": 7315,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "ANO5",
      "gene_hgnc_id": 27337,
      "dbsnp": "rs763783201",
      "frequency_reference_population": 0.000012318811,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 18,
      "gnomad_exomes_af": 0.0000123188,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 18,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.7253341674804688,
      "computational_prediction_selected": "Uncertain_significance",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.387,
      "revel_prediction": "Uncertain_significance",
      "alphamissense_score": 0.1719,
      "alphamissense_prediction": "Benign",
      "bayesdelnoaf_score": -0.18,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 7.953,
      "phylop100way_prediction": "Pathogenic",
      "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": 1,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PP5",
      "acmg_by_gene": [
        {
          "score": 1,
          "benign_score": 0,
          "pathogenic_score": 1,
          "criteria": [
            "PP5"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000324559.9",
          "gene_symbol": "ANO5",
          "hgnc_id": 27337,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.1823T>C",
          "hgvs_p": "p.Ile608Thr"
        }
      ],
      "clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2L,Gnathodiaphyseal dysplasia,not provided",
      "clinvar_classification": "Conflicting classifications of pathogenicity",
      "clinvar_review_status": "criteria provided, conflicting classifications",
      "clinvar_submissions_summary": "LP:1 US:1",
      "phenotype_combined": "Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia|not provided",
      "pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
      "custom_annotations": null
    }
  ],
  "message": null
}