← 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: 3-25525589-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=25525589&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "3",
      "pos": 25525589,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000330688.9",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "c.448+24266G>A",
          "hgvs_p": null,
          "transcript": "NM_000965.5",
          "protein_id": "NP_000956.2",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 448,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1347,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3132,
          "mane_select": "ENST00000330688.9",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "c.448+24266G>A",
          "hgvs_p": null,
          "transcript": "ENST00000330688.9",
          "protein_id": "ENSP00000332296.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 448,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1347,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3132,
          "mane_select": "NM_000965.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "c.112+24266G>A",
          "hgvs_p": null,
          "transcript": "ENST00000437042.7",
          "protein_id": "ENSP00000398840.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 336,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1011,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2600,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "c.112+24266G>A",
          "hgvs_p": null,
          "transcript": "ENST00000458646.2",
          "protein_id": "ENSP00000391391.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 336,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1011,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2587,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "c.469+24266G>A",
          "hgvs_p": null,
          "transcript": "NM_001290216.3",
          "protein_id": "NP_001277145.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3177,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "c.469+24266G>A",
          "hgvs_p": null,
          "transcript": "ENST00000383772.9",
          "protein_id": "ENSP00000373282.5",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3034,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "c.469+24266G>A",
          "hgvs_p": null,
          "transcript": "ENST00000686715.1",
          "protein_id": "ENSP00000510539.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3135,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": 8,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "c.469+24266G>A",
          "hgvs_p": null,
          "transcript": "ENST00000687353.1",
          "protein_id": "ENSP00000508588.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3341,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 12,
          "intron_rank": 7,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "c.469+24266G>A",
          "hgvs_p": null,
          "transcript": "ENST00000687676.1",
          "protein_id": "ENSP00000510313.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3221,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": 6,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "c.469+24266G>A",
          "hgvs_p": null,
          "transcript": "ENST00000688892.1",
          "protein_id": "ENSP00000510650.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 455,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1368,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3144,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "c.319+24266G>A",
          "hgvs_p": null,
          "transcript": "NM_001290300.2",
          "protein_id": "NP_001277229.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 405,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1218,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2596,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "c.448+24266G>A",
          "hgvs_p": null,
          "transcript": "NM_001290277.1",
          "protein_id": "NP_001277206.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 402,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1209,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2994,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "c.448+24266G>A",
          "hgvs_p": null,
          "transcript": "ENST00000691912.1",
          "protein_id": "ENSP00000510520.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 402,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1209,
          "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": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "c.301+24266G>A",
          "hgvs_p": null,
          "transcript": "NM_001290266.2",
          "protein_id": "NP_001277195.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 399,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1200,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2775,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "c.112+24266G>A",
          "hgvs_p": null,
          "transcript": "NM_001290217.2",
          "protein_id": "NP_001277146.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 336,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1011,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2590,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "c.112+24266G>A",
          "hgvs_p": null,
          "transcript": "NM_001290276.2",
          "protein_id": "NP_001277205.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 336,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1011,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3132,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "c.112+24266G>A",
          "hgvs_p": null,
          "transcript": "NM_016152.4",
          "protein_id": "NP_057236.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 336,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1011,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2775,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "c.112+24266G>A",
          "hgvs_p": null,
          "transcript": "ENST00000693261.1",
          "protein_id": "ENSP00000508421.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 336,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 1011,
          "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": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 6,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "c.448+24266G>A",
          "hgvs_p": null,
          "transcript": "ENST00000687083.1",
          "protein_id": "ENSP00000509681.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 266,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 801,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2124,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "n.329-9091G>A",
          "hgvs_p": null,
          "transcript": "ENST00000462272.6",
          "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": 2563,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "n.448+24266G>A",
          "hgvs_p": null,
          "transcript": "ENST00000479097.6",
          "protein_id": "ENSP00000508755.1",
          "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": 2352,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "n.448+24266G>A",
          "hgvs_p": null,
          "transcript": "ENST00000480001.6",
          "protein_id": "ENSP00000510647.1",
          "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": 2722,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 8,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "n.*284+24266G>A",
          "hgvs_p": null,
          "transcript": "ENST00000685523.1",
          "protein_id": "ENSP00000508765.1",
          "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": 3036,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "n.142+24266G>A",
          "hgvs_p": null,
          "transcript": "ENST00000689700.1",
          "protein_id": "ENSP00000510200.1",
          "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": 2409,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 10,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "n.470-9091G>A",
          "hgvs_p": null,
          "transcript": "ENST00000690398.1",
          "protein_id": "ENSP00000510044.1",
          "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": 2854,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "n.289+24266G>A",
          "hgvs_p": null,
          "transcript": "ENST00000691580.1",
          "protein_id": "ENSP00000510073.1",
          "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": 2492,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 4,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "n.142+24266G>A",
          "hgvs_p": null,
          "transcript": "ENST00000693580.1",
          "protein_id": "ENSP00000510405.1",
          "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": 866,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "n.917+24266G>A",
          "hgvs_p": null,
          "transcript": "NR_110892.2",
          "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": 2971,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 7,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "RARB",
          "gene_hgnc_id": 9865,
          "hgvs_c": "n.917+24266G>A",
          "hgvs_p": null,
          "transcript": "NR_110893.2",
          "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": 2927,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "RARB",
      "gene_hgnc_id": 9865,
      "dbsnp": "rs1286756",
      "frequency_reference_population": 0.5476735,
      "hom_count_reference_population": 25593,
      "allele_count_reference_population": 83288,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.547674,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 83288,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 25593,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.9700000286102295,
      "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": -0.97,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.242,
      "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": -12,
      "acmg_classification": "Benign",
      "acmg_criteria": "BP4_Strong,BA1",
      "acmg_by_gene": [
        {
          "score": -12,
          "benign_score": 12,
          "pathogenic_score": 0,
          "criteria": [
            "BP4_Strong",
            "BA1"
          ],
          "verdict": "Benign",
          "transcript": "ENST00000330688.9",
          "gene_symbol": "RARB",
          "hgnc_id": 9865,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR,AD",
          "hgvs_c": "c.448+24266G>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
}