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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: 11-111498029-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=111498029&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 111498029,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_001367975.1",
      "consequences": [
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "c.280A>G",
          "hgvs_p": "p.Ile94Val",
          "transcript": "NM_001367975.1",
          "protein_id": "NP_001354904.1",
          "transcript_support_level": null,
          "aa_start": 94,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 280,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": 512,
          "cdna_end": null,
          "cdna_length": 1242,
          "mane_select": "ENST00000692032.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "c.280A>G",
          "hgvs_p": "p.Ile94Val",
          "transcript": "ENST00000692032.1",
          "protein_id": "ENSP00000509850.1",
          "transcript_support_level": null,
          "aa_start": 94,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 280,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": 512,
          "cdna_end": null,
          "cdna_length": 1242,
          "mane_select": "NM_001367975.1",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "c.280A>G",
          "hgvs_p": "p.Ile94Val",
          "transcript": "ENST00000525791.5",
          "protein_id": "ENSP00000432018.1",
          "transcript_support_level": 1,
          "aa_start": 94,
          "aa_end": null,
          "aa_length": 206,
          "cds_start": 280,
          "cds_end": null,
          "cds_length": 621,
          "cdna_start": 465,
          "cdna_end": null,
          "cdna_length": 1394,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "c.280A>G",
          "hgvs_p": "p.Ile94Val",
          "transcript": "NM_001367974.1",
          "protein_id": "NP_001354903.1",
          "transcript_support_level": null,
          "aa_start": 94,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 280,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": 365,
          "cdna_end": null,
          "cdna_length": 1095,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "c.280A>G",
          "hgvs_p": "p.Ile94Val",
          "transcript": "ENST00000689553.1",
          "protein_id": "ENSP00000508793.1",
          "transcript_support_level": null,
          "aa_start": 94,
          "aa_end": null,
          "aa_length": 229,
          "cds_start": 280,
          "cds_end": null,
          "cds_length": 690,
          "cdna_start": 637,
          "cdna_end": null,
          "cdna_length": 1124,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "c.280A>G",
          "hgvs_p": "p.Ile94Val",
          "transcript": "NM_017589.4",
          "protein_id": "NP_060059.1",
          "transcript_support_level": null,
          "aa_start": 94,
          "aa_end": null,
          "aa_length": 223,
          "cds_start": 280,
          "cds_end": null,
          "cds_length": 672,
          "cdna_start": 512,
          "cdna_end": null,
          "cdna_length": 1050,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "c.280A>G",
          "hgvs_p": "p.Ile94Val",
          "transcript": "ENST00000356018.6",
          "protein_id": "ENSP00000348300.2",
          "transcript_support_level": 5,
          "aa_start": 94,
          "aa_end": null,
          "aa_length": 223,
          "cds_start": 280,
          "cds_end": null,
          "cds_length": 672,
          "cdna_start": 480,
          "cdna_end": null,
          "cdna_length": 1018,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "c.280A>G",
          "hgvs_p": "p.Ile94Val",
          "transcript": "NM_001367976.1",
          "protein_id": "NP_001354905.1",
          "transcript_support_level": null,
          "aa_start": 94,
          "aa_end": null,
          "aa_length": 206,
          "cds_start": 280,
          "cds_end": null,
          "cds_length": 621,
          "cdna_start": 512,
          "cdna_end": null,
          "cdna_length": 1441,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "c.280A>G",
          "hgvs_p": "p.Ile94Val",
          "transcript": "ENST00000456861.2",
          "protein_id": "ENSP00000392358.2",
          "transcript_support_level": 3,
          "aa_start": 94,
          "aa_end": null,
          "aa_length": 159,
          "cds_start": 280,
          "cds_end": null,
          "cds_length": 482,
          "cdna_start": 552,
          "cdna_end": null,
          "cdna_length": 754,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "c.280A>G",
          "hgvs_p": "p.Ile94Val",
          "transcript": "XM_024448587.2",
          "protein_id": "XP_024304355.1",
          "transcript_support_level": null,
          "aa_start": 94,
          "aa_end": null,
          "aa_length": 293,
          "cds_start": 280,
          "cds_end": null,
          "cds_length": 882,
          "cdna_start": 512,
          "cdna_end": null,
          "cdna_length": 2432,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
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          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "c.280A>G",
          "hgvs_p": "p.Ile94Val",
          "transcript": "XM_024448588.2",
          "protein_id": "XP_024304356.1",
          "transcript_support_level": null,
          "aa_start": 94,
          "aa_end": null,
          "aa_length": 293,
          "cds_start": 280,
          "cds_end": null,
          "cds_length": 882,
          "cdna_start": 596,
          "cdna_end": null,
          "cdna_length": 2516,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "c.280A>G",
          "hgvs_p": "p.Ile94Val",
          "transcript": "XM_024448589.2",
          "protein_id": "XP_024304357.1",
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          "cds_start": 280,
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          "cdna_start": 365,
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          "cdna_length": 2285,
          "mane_select": null,
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          "feature": null
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        {
          "aa_ref": "I",
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 4,
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          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BTG4",
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          "hgvs_c": "c.280A>G",
          "hgvs_p": "p.Ile94Val",
          "transcript": "XM_024448590.2",
          "protein_id": "XP_024304358.1",
          "transcript_support_level": null,
          "aa_start": 94,
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          "cds_start": 280,
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          "cdna_start": 609,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 3,
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          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "c.280A>G",
          "hgvs_p": "p.Ile94Val",
          "transcript": "XM_024448591.2",
          "protein_id": "XP_024304359.1",
          "transcript_support_level": null,
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          "cds_start": 280,
          "cds_end": null,
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          "cdna_start": 814,
          "cdna_end": null,
          "cdna_length": 2734,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
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            "missense_variant"
          ],
          "exon_rank": 3,
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          "exon_count": 8,
          "intron_rank": null,
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          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "c.280A>G",
          "hgvs_p": "p.Ile94Val",
          "transcript": "XM_011542876.3",
          "protein_id": "XP_011541178.1",
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          "cdna_start": 512,
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          "mane_select": null,
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          "feature": null
        },
        {
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          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "c.178A>G",
          "hgvs_p": "p.Ile60Val",
          "transcript": "XM_024448592.2",
          "protein_id": "XP_024304360.1",
          "transcript_support_level": null,
          "aa_start": 60,
          "aa_end": null,
          "aa_length": 259,
          "cds_start": 178,
          "cds_end": null,
          "cds_length": 780,
          "cdna_start": 481,
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          "cdna_length": 2401,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "c.280A>G",
          "hgvs_p": "p.Ile94Val",
          "transcript": "XM_011542879.3",
          "protein_id": "XP_011541181.1",
          "transcript_support_level": null,
          "aa_start": 94,
          "aa_end": null,
          "aa_length": 244,
          "cds_start": 280,
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          "cds_length": 735,
          "cdna_start": 512,
          "cdna_end": null,
          "cdna_length": 1146,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": "I",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "c.280A>G",
          "hgvs_p": "p.Ile94Val",
          "transcript": "XM_011542880.3",
          "protein_id": "XP_011541182.1",
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          "cds_start": 280,
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          "cdna_start": 512,
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          "biotype": null,
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        },
        {
          "aa_ref": null,
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "n.512A>G",
          "hgvs_p": null,
          "transcript": "XR_001747911.3",
          "protein_id": null,
          "transcript_support_level": null,
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          "cds_start": -4,
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          "cdna_start": null,
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          "cdna_length": 1328,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "n.512A>G",
          "hgvs_p": null,
          "transcript": "XR_007062488.1",
          "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": 1434,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "n.512A>G",
          "hgvs_p": null,
          "transcript": "XR_947834.3",
          "protein_id": null,
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        },
        {
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          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
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          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
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          "hgvs_c": "n.512A>G",
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          "gene_symbol": "BTG4",
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          "hgvs_c": "n.512A>G",
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          "cdna_start": null,
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          "cdna_length": 1370,
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        },
        {
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          "protein_coding": false,
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          "consequences": [
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          "gene_symbol": "BTG4",
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          "hgvs_c": "n.512A>G",
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          "transcript": "XR_947851.3",
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          "cdna_length": 1440,
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        },
        {
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          "consequences": [
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          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "n.512A>G",
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          "transcript": "XR_947852.3",
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          "cdna_length": 1375,
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        },
        {
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          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 3,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "BTG4",
          "gene_hgnc_id": 13862,
          "hgvs_c": "n.512A>G",
          "hgvs_p": null,
          "transcript": "XR_947855.3",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": null,
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          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1199,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "BTG4",
      "gene_hgnc_id": 13862,
      "dbsnp": "rs147485753",
      "frequency_reference_population": 0.000034076067,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 55,
      "gnomad_exomes_af": 0.0000369406,
      "gnomad_genomes_af": 0.00000656909,
      "gnomad_exomes_ac": 54,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.21743100881576538,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.035,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.105,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.42,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.847,
      "phylop100way_prediction": "Benign",
      "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": 0,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,BP4_Moderate",
      "acmg_by_gene": [
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_001367975.1",
          "gene_symbol": "BTG4",
          "hgnc_id": 13862,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.280A>G",
          "hgvs_p": "p.Ile94Val"
        }
      ],
      "clinvar_disease": "not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, single submitter",
      "clinvar_submissions_summary": "US:1",
      "phenotype_combined": "not specified",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}