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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: 17-13787437-A-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=13787437&ref=A&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "17",
      "pos": 13787437,
      "ref": "A",
      "alt": "T",
      "effect": "intron_variant",
      "transcript": "ENST00000423323.2",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COX10-DT",
          "gene_hgnc_id": 38873,
          "hgvs_c": "n.2282+2832T>A",
          "hgvs_p": null,
          "transcript": "ENST00000423323.2",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 3000,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "COX10-DT",
          "gene_hgnc_id": 38873,
          "hgvs_c": "n.418+2832T>A",
          "hgvs_p": null,
          "transcript": "ENST00000577798.6",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 936,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "COX10-DT",
          "gene_hgnc_id": 38873,
          "hgvs_c": "n.810-30708T>A",
          "hgvs_p": null,
          "transcript": "ENST00000582752.7",
          "protein_id": null,
          "transcript_support_level": 3,
          "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": 1965,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "COX10-DT",
          "gene_hgnc_id": 38873,
          "hgvs_c": "n.870-10088T>A",
          "hgvs_p": null,
          "transcript": "ENST00000602539.3",
          "protein_id": null,
          "transcript_support_level": 2,
          "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": 1392,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "COX10-DT",
          "gene_hgnc_id": 38873,
          "hgvs_c": "n.534-10088T>A",
          "hgvs_p": null,
          "transcript": "ENST00000602743.1",
          "protein_id": null,
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 576,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "COX10-DT",
          "gene_hgnc_id": 38873,
          "hgvs_c": "n.379+2832T>A",
          "hgvs_p": null,
          "transcript": "ENST00000655970.2",
          "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": 1163,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 2,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "COX10-DT",
          "gene_hgnc_id": 38873,
          "hgvs_c": "n.3309+2832T>A",
          "hgvs_p": null,
          "transcript": "ENST00000656960.1",
          "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": 3998,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "COX10-DT",
          "gene_hgnc_id": 38873,
          "hgvs_c": "n.622-10088T>A",
          "hgvs_p": null,
          "transcript": "ENST00000662986.1",
          "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": 1367,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "COX10-DT",
          "gene_hgnc_id": 38873,
          "hgvs_c": "n.736-10088T>A",
          "hgvs_p": null,
          "transcript": "ENST00000686296.1",
          "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": 1258,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "COX10-DT",
          "gene_hgnc_id": 38873,
          "hgvs_c": "n.816-10088T>A",
          "hgvs_p": null,
          "transcript": "ENST00000686809.1",
          "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": 1537,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "COX10-DT",
          "gene_hgnc_id": 38873,
          "hgvs_c": "n.763+2832T>A",
          "hgvs_p": null,
          "transcript": "ENST00000690301.2",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
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          "cds_start": -4,
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          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1740,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
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          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "COX10-DT",
          "gene_hgnc_id": 38873,
          "hgvs_c": "n.773+2832T>A",
          "hgvs_p": null,
          "transcript": "ENST00000701067.1",
          "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": 1289,
          "mane_select": null,
          "mane_plus": null,
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        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "COX10-DT",
          "gene_hgnc_id": 38873,
          "hgvs_c": "n.275-10088T>A",
          "hgvs_p": null,
          "transcript": "ENST00000701579.1",
          "protein_id": null,
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          "mane_select": null,
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "COX10-DT",
          "gene_hgnc_id": 38873,
          "hgvs_c": "n.651-10088T>A",
          "hgvs_p": null,
          "transcript": "ENST00000701610.1",
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          "cdna_length": 1173,
          "mane_select": null,
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          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
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          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "COX10-DT",
          "gene_hgnc_id": 38873,
          "hgvs_c": "n.847+2832T>A",
          "hgvs_p": null,
          "transcript": "ENST00000701670.2",
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          "exon_count": 9,
          "intron_rank": 8,
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          "gene_symbol": "COX10-DT",
          "gene_hgnc_id": 38873,
          "hgvs_c": "n.742+2832T>A",
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        },
        {
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          "canonical": false,
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          "consequences": [
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          "exon_count": 5,
          "intron_rank": 4,
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          "gene_symbol": "COX10-DT",
          "gene_hgnc_id": 38873,
          "hgvs_c": "n.832-10088T>A",
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          "transcript": "ENST00000792907.1",
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        {
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          "canonical": false,
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          "consequences": [
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          ],
          "exon_rank": null,
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          "exon_count": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "COX10-DT",
          "gene_hgnc_id": 38873,
          "hgvs_c": "n.696-10088T>A",
          "hgvs_p": null,
          "transcript": "ENST00000792908.1",
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        {
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          "gene_symbol": "COX10-DT",
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          "hgvs_c": "n.857+2832T>A",
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        },
        {
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          "gene_symbol": "COX10-DT",
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          "hgvs_c": "n.870-10088T>A",
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 6,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "COX10-DT",
          "gene_hgnc_id": 38873,
          "hgvs_c": "n.812+2832T>A",
          "hgvs_p": null,
          "transcript": "ENST00000792911.1",
          "protein_id": null,
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        {
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          "canonical": false,
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          "consequences": [
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          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 670,
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        },
        {
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          ],
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          "exon_count": 4,
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          "gene_symbol": "COX10-DT",
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          "cdna_length": 966,
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        },
        {
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          "protein_coding": false,
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            "intron_variant"
          ],
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          "exon_count": 2,
          "intron_rank": 1,
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          "gene_symbol": "LOC107985014",
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          "hgvs_c": "n.43+2832T>A",
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          "transcript": "XR_007065626.1",
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          "aa_start": null,
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          "aa_length": null,
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          "cdna_start": null,
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          "cdna_length": 1443,
          "mane_select": null,
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        },
        {
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          "protein_coding": false,
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          "consequences": [
            "intron_variant"
          ],
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          "exon_count": 3,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "LOC107985014",
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          "hgvs_c": "n.43+2832T>A",
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          "transcript": "XR_007065628.1",
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          "transcript_support_level": null,
          "aa_start": null,
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          "cds_length": null,
          "cdna_start": null,
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          "cdna_length": 1215,
          "mane_select": null,
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      ],
      "gene_symbol": "COX10-DT",
      "gene_hgnc_id": 38873,
      "dbsnp": "rs2322969",
      "frequency_reference_population": 0.000032912925,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 5,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.0000329129,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 5,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.9200000166893005,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": null,
      "splice_prediction_selected": null,
      "splice_source_selected": null,
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.92,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -1.189,
      "phylop100way_prediction": "Benign",
      "spliceai_max_score": null,
      "spliceai_max_prediction": null,
      "dbscsnv_ada_score": null,
      "dbscsnv_ada_prediction": null,
      "apogee2_score": null,
      "apogee2_prediction": null,
      "mitotip_score": null,
      "mitotip_prediction": null,
      "acmg_score": -4,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000423323.2",
          "gene_symbol": "COX10-DT",
          "hgnc_id": 38873,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.2282+2832T>A",
          "hgvs_p": null
        },
        {
          "score": -4,
          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "XR_007065626.1",
          "gene_symbol": "LOC107985014",
          "hgnc_id": null,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.43+2832T>A",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}