← Back to variant description

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: 1-1846651-T-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1846651&ref=T&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "1",
      "pos": 1846651,
      "ref": "T",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000378609.9",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-95-7413A>T",
          "hgvs_p": null,
          "transcript": "NM_002074.5",
          "protein_id": "NP_002065.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3163,
          "mane_select": "ENST00000378609.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-95-7413A>T",
          "hgvs_p": null,
          "transcript": "ENST00000378609.9",
          "protein_id": "ENSP00000367872.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3163,
          "mane_select": "NM_002074.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-46-21152A>T",
          "hgvs_p": null,
          "transcript": "NM_001282539.2",
          "protein_id": "NP_001269468.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3114,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-46-21152A>T",
          "hgvs_p": null,
          "transcript": "ENST00000610897.4",
          "protein_id": "ENSP00000481878.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3145,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-95-7413A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703692.1",
          "protein_id": "ENSP00000515427.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3265,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+1227A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703693.1",
          "protein_id": "ENSP00000515428.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3484,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-46-21152A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703694.1",
          "protein_id": "ENSP00000515429.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3139,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-95-7413A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703696.1",
          "protein_id": "ENSP00000515431.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3019,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-95-7413A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703697.1",
          "protein_id": "ENSP00000515432.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3247,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-95-7413A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703699.1",
          "protein_id": "ENSP00000515433.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3184,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-95-7413A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703700.1",
          "protein_id": "ENSP00000515434.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2875,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-95-7413A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703701.1",
          "protein_id": "ENSP00000515435.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3214,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+5919A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703702.1",
          "protein_id": "ENSP00000515436.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3008,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-95-7413A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703703.1",
          "protein_id": "ENSP00000515437.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2923,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+5919A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703704.1",
          "protein_id": "ENSP00000515438.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3141,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+6501A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703706.1",
          "protein_id": "ENSP00000515440.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2579,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+1227A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703708.1",
          "protein_id": "ENSP00000515442.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2841,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-95-7413A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703709.1",
          "protein_id": "ENSP00000515443.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2304,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+5919A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703710.1",
          "protein_id": "ENSP00000515444.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1789,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+5919A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703711.1",
          "protein_id": "ENSP00000515445.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 1650,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-95-7413A>T",
          "hgvs_p": null,
          "transcript": "ENST00000439272.7",
          "protein_id": "ENSP00000399741.3",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 327,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 984,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2902,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-46-21152A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703707.1",
          "protein_id": "ENSP00000515441.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 327,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 984,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2340,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-124-7413A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703705.1",
          "protein_id": "ENSP00000515439.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 296,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 891,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2493,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-249-7413A>T",
          "hgvs_p": null,
          "transcript": "NM_001282538.2",
          "protein_id": "NP_001269467.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 240,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 723,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3017,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 9,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-149-6969A>T",
          "hgvs_p": null,
          "transcript": "ENST00000434686.6",
          "protein_id": "ENSP00000392765.2",
          "transcript_support_level": 3,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 164,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 497,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 684,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "n.148-7413A>T",
          "hgvs_p": null,
          "transcript": "ENST00000472614.2",
          "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": 708,
          "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": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "n.-95-7413A>T",
          "hgvs_p": null,
          "transcript": "ENST00000703695.1",
          "protein_id": "ENSP00000515430.1",
          "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": 2737,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-95-7413A>T",
          "hgvs_p": null,
          "transcript": "XM_017001060.3",
          "protein_id": "XP_016856549.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3159,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-46-21152A>T",
          "hgvs_p": null,
          "transcript": "XM_017001061.3",
          "protein_id": "XP_016856550.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3110,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-95-7413A>T",
          "hgvs_p": null,
          "transcript": "XM_024446495.2",
          "protein_id": "XP_024302263.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3025,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+1227A>T",
          "hgvs_p": null,
          "transcript": "XM_047418042.1",
          "protein_id": "XP_047273998.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3438,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+6501A>T",
          "hgvs_p": null,
          "transcript": "XM_047418043.1",
          "protein_id": "XP_047273999.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3225,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+1810A>T",
          "hgvs_p": null,
          "transcript": "XM_047418044.1",
          "protein_id": "XP_047274000.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3605,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-95-7413A>T",
          "hgvs_p": null,
          "transcript": "XM_047418045.1",
          "protein_id": "XP_047274001.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3440,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+1227A>T",
          "hgvs_p": null,
          "transcript": "XM_047418046.1",
          "protein_id": "XP_047274002.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3764,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+6501A>T",
          "hgvs_p": null,
          "transcript": "XM_047418049.1",
          "protein_id": "XP_047274005.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3309,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+1227A>T",
          "hgvs_p": null,
          "transcript": "XM_047418050.1",
          "protein_id": "XP_047274006.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3653,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+1227A>T",
          "hgvs_p": null,
          "transcript": "XM_047418054.1",
          "protein_id": "XP_047274010.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3648,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+6501A>T",
          "hgvs_p": null,
          "transcript": "XM_047418055.1",
          "protein_id": "XP_047274011.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3124,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+1227A>T",
          "hgvs_p": null,
          "transcript": "XM_047418056.1",
          "protein_id": "XP_047274012.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3361,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+1227A>T",
          "hgvs_p": null,
          "transcript": "XM_047418057.1",
          "protein_id": "XP_047274013.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4077,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": 5,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+1227A>T",
          "hgvs_p": null,
          "transcript": "XM_047418058.1",
          "protein_id": "XP_047274014.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3505,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+1227A>T",
          "hgvs_p": null,
          "transcript": "XM_047418059.1",
          "protein_id": "XP_047274015.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3584,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+1227A>T",
          "hgvs_p": null,
          "transcript": "XM_047418060.1",
          "protein_id": "XP_047274016.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3352,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+1810A>T",
          "hgvs_p": null,
          "transcript": "XM_047418061.1",
          "protein_id": "XP_047274017.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3489,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+1227A>T",
          "hgvs_p": null,
          "transcript": "XM_047418062.1",
          "protein_id": "XP_047274018.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3268,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-95-7413A>T",
          "hgvs_p": null,
          "transcript": "XM_047418063.1",
          "protein_id": "XP_047274019.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3225,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+6501A>T",
          "hgvs_p": null,
          "transcript": "XM_047418067.1",
          "protein_id": "XP_047274023.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3180,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-95-7413A>T",
          "hgvs_p": null,
          "transcript": "XM_047418068.1",
          "protein_id": "XP_047274024.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2997,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+1227A>T",
          "hgvs_p": null,
          "transcript": "XM_047418069.1",
          "protein_id": "XP_047274025.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3329,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+6501A>T",
          "hgvs_p": null,
          "transcript": "XM_047418070.1",
          "protein_id": "XP_047274026.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3305,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+1810A>T",
          "hgvs_p": null,
          "transcript": "XM_047418071.1",
          "protein_id": "XP_047274027.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 340,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1023,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3374,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-95-7413A>T",
          "hgvs_p": null,
          "transcript": "XM_047418072.1",
          "protein_id": "XP_047274028.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 327,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 984,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3124,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-96+6501A>T",
          "hgvs_p": null,
          "transcript": "XM_047418073.1",
          "protein_id": "XP_047274029.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 327,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 984,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3270,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-95-7413A>T",
          "hgvs_p": null,
          "transcript": "XM_047418074.1",
          "protein_id": "XP_047274030.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 327,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 984,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2939,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-46-21152A>T",
          "hgvs_p": null,
          "transcript": "XM_047418076.1",
          "protein_id": "XP_047274032.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 327,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 984,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3075,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "GNB1",
          "gene_hgnc_id": 4396,
          "hgvs_c": "c.-46-21152A>T",
          "hgvs_p": null,
          "transcript": "XM_047418078.1",
          "protein_id": "XP_047274034.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 327,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 984,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3071,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "GNB1",
      "gene_hgnc_id": 4396,
      "dbsnp": "rs12126768",
      "frequency_reference_population": 0.000039435286,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 6,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.0000394353,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 6,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8999999761581421,
      "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": -0.9,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 0.293,
      "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": -8,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BS2",
      "acmg_by_gene": [
        {
          "score": -8,
          "benign_score": 8,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BS2"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000378609.9",
          "gene_symbol": "GNB1",
          "hgnc_id": 4396,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.-95-7413A>T",
          "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
}