← 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: 15-75426328-G-A (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=75426328&ref=G&alt=A&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "15",
      "pos": 75426328,
      "ref": "G",
      "alt": "A",
      "effect": "intron_variant",
      "transcript": "ENST00000394947.8",
      "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": 21,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "NM_001145358.2",
          "protein_id": "NP_001138830.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6723,
          "mane_select": "ENST00000394947.8",
          "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": 21,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "ENST00000394947.8",
          "protein_id": "ENSP00000378402.3",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6723,
          "mane_select": "NM_001145358.2",
          "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": 21,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "ENST00000360439.8",
          "protein_id": "ENSP00000353622.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5050,
          "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": 21,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "ENST00000394949.8",
          "protein_id": "ENSP00000378403.4",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4930,
          "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": 20,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "ENST00000704310.1",
          "protein_id": "ENSP00000515832.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1278,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3837,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5342,
          "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": 21,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "NM_001145357.2",
          "protein_id": "NP_001138829.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6636,
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "NM_001437462.1",
          "protein_id": "NP_001424391.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6821,
          "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": 21,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "NM_001437463.1",
          "protein_id": "NP_001424392.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6483,
          "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": 21,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "NM_015477.3",
          "protein_id": "NP_056292.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6786,
          "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": 21,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "ENST00000564778.6",
          "protein_id": "ENSP00000455204.2",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4778,
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "ENST00000565264.2",
          "protein_id": "ENSP00000454296.2",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 5170,
          "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": 23,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "ENST00000704312.1",
          "protein_id": "ENSP00000515834.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4923,
          "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": 3,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "ENST00000567289.5",
          "protein_id": "ENSP00000455834.1",
          "transcript_support_level": 2,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 156,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 471,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4078,
          "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": 4,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "ENST00000562776.5",
          "protein_id": "ENSP00000455072.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 141,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 426,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 590,
          "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": 5,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "ENST00000568431.5",
          "protein_id": "ENSP00000454750.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 129,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 391,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 565,
          "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": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "ENST00000570115.5",
          "protein_id": "ENSP00000455662.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 122,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 370,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 554,
          "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": 4,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "ENST00000568309.5",
          "protein_id": "ENSP00000455644.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 106,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 321,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 549,
          "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": 5,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "ENST00000568190.1",
          "protein_id": "ENSP00000456997.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 97,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 294,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 567,
          "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": 23,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "n.190-3054C>T",
          "hgvs_p": null,
          "transcript": "ENST00000704304.1",
          "protein_id": "ENSP00000515828.1",
          "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": 4936,
          "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": 21,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "n.190-3054C>T",
          "hgvs_p": null,
          "transcript": "ENST00000704305.1",
          "protein_id": "ENSP00000515829.1",
          "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": 3989,
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "XM_047432355.1",
          "protein_id": "XP_047288311.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6886,
          "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": 21,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "XM_047432356.1",
          "protein_id": "XP_047288312.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6501,
          "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": 21,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "XM_047432358.1",
          "protein_id": "XP_047288314.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6573,
          "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": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "XM_047432359.1",
          "protein_id": "XP_047288315.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6668,
          "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": 21,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "XM_047432360.1",
          "protein_id": "XP_047288316.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8527,
          "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": 23,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "XM_047432361.1",
          "protein_id": "XP_047288317.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6984,
          "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": 21,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "SIN3A",
          "gene_hgnc_id": 19353,
          "hgvs_c": "c.190-3505C>T",
          "hgvs_p": null,
          "transcript": "XM_047432362.1",
          "protein_id": "XP_047288318.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 1273,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 3822,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6864,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "SIN3A",
      "gene_hgnc_id": 19353,
      "dbsnp": "rs8028182",
      "frequency_reference_population": 0.000006581545,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.00000658155,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 1,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 0,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8399999737739563,
      "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": -0.84,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 1.166,
      "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": -2,
      "acmg_classification": "Likely_benign",
      "acmg_criteria": "PM2,BP4_Strong",
      "acmg_by_gene": [
        {
          "score": -2,
          "benign_score": 4,
          "pathogenic_score": 2,
          "criteria": [
            "PM2",
            "BP4_Strong"
          ],
          "verdict": "Likely_benign",
          "transcript": "ENST00000394947.8",
          "gene_symbol": "SIN3A",
          "hgnc_id": 19353,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AD",
          "hgvs_c": "c.190-3505C>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
}