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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: 11-44605107-G-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=44605107&ref=G&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "11",
      "pos": 44605107,
      "ref": "G",
      "alt": "C",
      "effect": "synonymous_variant",
      "transcript": "NM_002231.4",
      "consequences": [
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CD82",
          "gene_hgnc_id": 6210,
          "hgvs_c": "c.186G>C",
          "hgvs_p": "p.Val62Val",
          "transcript": "NM_002231.4",
          "protein_id": "NP_002222.1",
          "transcript_support_level": null,
          "aa_start": 62,
          "aa_end": null,
          "aa_length": 267,
          "cds_start": 186,
          "cds_end": null,
          "cds_length": 804,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "ENST00000227155.9",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_002231.4"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CD82",
          "gene_hgnc_id": 6210,
          "hgvs_c": "c.186G>C",
          "hgvs_p": "p.Val62Val",
          "transcript": "ENST00000227155.9",
          "protein_id": "ENSP00000227155.4",
          "transcript_support_level": 1,
          "aa_start": 62,
          "aa_end": null,
          "aa_length": 267,
          "cds_start": 186,
          "cds_end": null,
          "cds_length": 804,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": "NM_002231.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000227155.9"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CD82",
          "gene_hgnc_id": 6210,
          "hgvs_c": "c.186G>C",
          "hgvs_p": "p.Val62Val",
          "transcript": "ENST00000878578.1",
          "protein_id": "ENSP00000548637.1",
          "transcript_support_level": null,
          "aa_start": 62,
          "aa_end": null,
          "aa_length": 314,
          "cds_start": 186,
          "cds_end": null,
          "cds_length": 945,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878578.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CD82",
          "gene_hgnc_id": 6210,
          "hgvs_c": "c.186G>C",
          "hgvs_p": "p.Val62Val",
          "transcript": "ENST00000878563.1",
          "protein_id": "ENSP00000548622.1",
          "transcript_support_level": null,
          "aa_start": 62,
          "aa_end": null,
          "aa_length": 267,
          "cds_start": 186,
          "cds_end": null,
          "cds_length": 804,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878563.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CD82",
          "gene_hgnc_id": 6210,
          "hgvs_c": "c.186G>C",
          "hgvs_p": "p.Val62Val",
          "transcript": "ENST00000878564.1",
          "protein_id": "ENSP00000548623.1",
          "transcript_support_level": null,
          "aa_start": 62,
          "aa_end": null,
          "aa_length": 267,
          "cds_start": 186,
          "cds_end": null,
          "cds_length": 804,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878564.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CD82",
          "gene_hgnc_id": 6210,
          "hgvs_c": "c.186G>C",
          "hgvs_p": "p.Val62Val",
          "transcript": "ENST00000878566.1",
          "protein_id": "ENSP00000548625.1",
          "transcript_support_level": null,
          "aa_start": 62,
          "aa_end": null,
          "aa_length": 267,
          "cds_start": 186,
          "cds_end": null,
          "cds_length": 804,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878566.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CD82",
          "gene_hgnc_id": 6210,
          "hgvs_c": "c.186G>C",
          "hgvs_p": "p.Val62Val",
          "transcript": "ENST00000878567.1",
          "protein_id": "ENSP00000548626.1",
          "transcript_support_level": null,
          "aa_start": 62,
          "aa_end": null,
          "aa_length": 267,
          "cds_start": 186,
          "cds_end": null,
          "cds_length": 804,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878567.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CD82",
          "gene_hgnc_id": 6210,
          "hgvs_c": "c.186G>C",
          "hgvs_p": "p.Val62Val",
          "transcript": "ENST00000878568.1",
          "protein_id": "ENSP00000548627.1",
          "transcript_support_level": null,
          "aa_start": 62,
          "aa_end": null,
          "aa_length": 267,
          "cds_start": 186,
          "cds_end": null,
          "cds_length": 804,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878568.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 4,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CD82",
          "gene_hgnc_id": 6210,
          "hgvs_c": "c.186G>C",
          "hgvs_p": "p.Val62Val",
          "transcript": "ENST00000878571.1",
          "protein_id": "ENSP00000548630.1",
          "transcript_support_level": null,
          "aa_start": 62,
          "aa_end": null,
          "aa_length": 267,
          "cds_start": 186,
          "cds_end": null,
          "cds_length": 804,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878571.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CD82",
          "gene_hgnc_id": 6210,
          "hgvs_c": "c.186G>C",
          "hgvs_p": "p.Val62Val",
          "transcript": "ENST00000878572.1",
          "protein_id": "ENSP00000548631.1",
          "transcript_support_level": null,
          "aa_start": 62,
          "aa_end": null,
          "aa_length": 267,
          "cds_start": 186,
          "cds_end": null,
          "cds_length": 804,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878572.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CD82",
          "gene_hgnc_id": 6210,
          "hgvs_c": "c.186G>C",
          "hgvs_p": "p.Val62Val",
          "transcript": "ENST00000878574.1",
          "protein_id": "ENSP00000548633.1",
          "transcript_support_level": null,
          "aa_start": 62,
          "aa_end": null,
          "aa_length": 267,
          "cds_start": 186,
          "cds_end": null,
          "cds_length": 804,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878574.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 7,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CD82",
          "gene_hgnc_id": 6210,
          "hgvs_c": "c.186G>C",
          "hgvs_p": "p.Val62Val",
          "transcript": "ENST00000878575.1",
          "protein_id": "ENSP00000548634.1",
          "transcript_support_level": null,
          "aa_start": 62,
          "aa_end": null,
          "aa_length": 267,
          "cds_start": 186,
          "cds_end": null,
          "cds_length": 804,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878575.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CD82",
          "gene_hgnc_id": 6210,
          "hgvs_c": "c.186G>C",
          "hgvs_p": "p.Val62Val",
          "transcript": "ENST00000878576.1",
          "protein_id": "ENSP00000548635.1",
          "transcript_support_level": null,
          "aa_start": 62,
          "aa_end": null,
          "aa_length": 267,
          "cds_start": 186,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878576.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CD82",
          "gene_hgnc_id": 6210,
          "hgvs_c": "c.186G>C",
          "hgvs_p": "p.Val62Val",
          "transcript": "ENST00000878579.1",
          "protein_id": "ENSP00000548638.1",
          "transcript_support_level": null,
          "aa_start": 62,
          "aa_end": null,
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          "cds_start": 186,
          "cds_end": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000878579.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
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          "intron_rank": null,
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          "gene_symbol": "CD82",
          "gene_hgnc_id": 6210,
          "hgvs_c": "c.186G>C",
          "hgvs_p": "p.Val62Val",
          "transcript": "ENST00000878580.1",
          "protein_id": "ENSP00000548639.1",
          "transcript_support_level": null,
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          "aa_end": null,
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          "cds_start": 186,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000878580.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CD82",
          "gene_hgnc_id": 6210,
          "hgvs_c": "c.186G>C",
          "hgvs_p": "p.Val62Val",
          "transcript": "ENST00000878581.1",
          "protein_id": "ENSP00000548640.1",
          "transcript_support_level": null,
          "aa_start": 62,
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          "aa_length": 267,
          "cds_start": 186,
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          "cdna_start": null,
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          "cdna_length": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000878581.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 5,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CD82",
          "gene_hgnc_id": 6210,
          "hgvs_c": "c.186G>C",
          "hgvs_p": "p.Val62Val",
          "transcript": "ENST00000878582.1",
          "protein_id": "ENSP00000548641.1",
          "transcript_support_level": null,
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          "cds_start": 186,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000878582.1"
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        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
          "exon_rank": 6,
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          "intron_rank": null,
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          "gene_symbol": "CD82",
          "gene_hgnc_id": 6210,
          "hgvs_c": "c.186G>C",
          "hgvs_p": "p.Val62Val",
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          "protein_id": "ENSP00000595779.1",
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          "cds_start": 186,
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          "cdna_start": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000925720.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
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          ],
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          "intron_rank": null,
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          "gene_symbol": "CD82",
          "gene_hgnc_id": 6210,
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          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000968150.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "synonymous_variant"
          ],
          "exon_rank": 6,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "CD82",
          "gene_hgnc_id": 6210,
          "hgvs_c": "c.186G>C",
          "hgvs_p": "p.Val62Val",
          "transcript": "ENST00000968151.1",
          "protein_id": "ENSP00000638210.1",
          "transcript_support_level": null,
          "aa_start": 62,
          "aa_end": null,
          "aa_length": 267,
          "cds_start": 186,
          "cds_end": null,
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          "cdna_start": null,
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          "cdna_length": null,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000968151.1"
        },
        {
          "aa_ref": "V",
          "aa_alt": "V",
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      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.4000000059604645,
      "computational_prediction_selected": "Benign",
      "computational_source_selected": "BayesDel_noAF",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": null,
      "revel_prediction": null,
      "alphamissense_score": null,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.4,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.607,
      "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": -1,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Moderate,BP7",
      "acmg_by_gene": [
        {
          "score": -1,
          "benign_score": 3,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate",
            "BP7"
          ],
          "verdict": "Likely_benign",
          "transcript": "NM_002231.4",
          "gene_symbol": "CD82",
          "hgnc_id": 6210,
          "effects": [
            "synonymous_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.186G>C",
          "hgvs_p": "p.Val62Val"
        },
        {
          "score": 0,
          "benign_score": 2,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "ENST00000533814.1",
          "gene_symbol": "CD82-AS1",
          "hgnc_id": 56287,
          "effects": [
            "non_coding_transcript_exon_variant"
          ],
          "inheritance_mode": "",
          "hgvs_c": "n.231C>G",
          "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
}