← 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: 7-24939736-A-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=24939736&ref=A&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 24939736,
      "ref": "A",
      "alt": "C",
      "effect": "intron_variant",
      "transcript": "NM_015550.4",
      "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": 23,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.-150+40150T>G",
          "hgvs_p": null,
          "transcript": "NM_015550.4",
          "protein_id": "NP_056365.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6749,
          "mane_select": "ENST00000313367.7",
          "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": 23,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.-150+40150T>G",
          "hgvs_p": null,
          "transcript": "ENST00000313367.7",
          "protein_id": "ENSP00000315410.2",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6749,
          "mane_select": "NM_015550.4",
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.-150+41663T>G",
          "hgvs_p": null,
          "transcript": "ENST00000415952.1",
          "protein_id": "ENSP00000411249.1",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 60,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 183,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 568,
          "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": 24,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.-150+40150T>G",
          "hgvs_p": null,
          "transcript": "XM_047420129.1",
          "protein_id": "XP_047276085.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 909,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2730,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6818,
          "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": 24,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.-150+41794T>G",
          "hgvs_p": null,
          "transcript": "XM_047420131.1",
          "protein_id": "XP_047276087.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 909,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2730,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6841,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.-150+41794T>G",
          "hgvs_p": null,
          "transcript": "XM_047420134.1",
          "protein_id": "XP_047276090.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6775,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.-150+40570T>G",
          "hgvs_p": null,
          "transcript": "XM_047420135.1",
          "protein_id": "XP_047276091.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7999,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.-150+39774T>G",
          "hgvs_p": null,
          "transcript": "XM_047420136.1",
          "protein_id": "XP_047276092.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6904,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.-150+41663T>G",
          "hgvs_p": null,
          "transcript": "XM_047420137.1",
          "protein_id": "XP_047276093.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6906,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.-150+9041T>G",
          "hgvs_p": null,
          "transcript": "XM_047420138.1",
          "protein_id": "XP_047276094.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 8093,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.-150+40150T>G",
          "hgvs_p": null,
          "transcript": "XM_047420139.1",
          "protein_id": "XP_047276095.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 878,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2637,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6725,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.-150+40150T>G",
          "hgvs_p": null,
          "transcript": "XM_047420142.1",
          "protein_id": "XP_047276098.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 873,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2622,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6710,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.-150+40150T>G",
          "hgvs_p": null,
          "transcript": "XM_006715681.4",
          "protein_id": "XP_006715744.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6659,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.-150+41663T>G",
          "hgvs_p": null,
          "transcript": "XM_047420145.1",
          "protein_id": "XP_047276101.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6813,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.-150+41794T>G",
          "hgvs_p": null,
          "transcript": "XM_047420146.1",
          "protein_id": "XP_047276102.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6682,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.-150+40150T>G",
          "hgvs_p": null,
          "transcript": "XM_006715682.4",
          "protein_id": "XP_006715745.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 851,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2556,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6644,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.-150+41668T>G",
          "hgvs_p": null,
          "transcript": "XM_047420148.1",
          "protein_id": "XP_047276104.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 851,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2556,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6793,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.-150+9041T>G",
          "hgvs_p": null,
          "transcript": "XM_047420149.1",
          "protein_id": "XP_047276105.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 851,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2556,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 7986,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.-150+40150T>G",
          "hgvs_p": null,
          "transcript": "XM_006715683.4",
          "protein_id": "XP_006715746.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 820,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2463,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6551,
          "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": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.-150+40150T>G",
          "hgvs_p": null,
          "transcript": "XM_047420152.1",
          "protein_id": "XP_047276108.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 796,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2391,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2877,
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "n.293+40150T>G",
          "hgvs_p": null,
          "transcript": "XR_007060001.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2676,
          "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": 16,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "n.293+40150T>G",
          "hgvs_p": null,
          "transcript": "XR_007060002.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2647,
          "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": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "n.293+40150T>G",
          "hgvs_p": null,
          "transcript": "XR_007060004.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2554,
          "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": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "n.293+40150T>G",
          "hgvs_p": null,
          "transcript": "XR_007060005.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2546,
          "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": 15,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "n.445+39774T>G",
          "hgvs_p": null,
          "transcript": "XR_007060006.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2698,
          "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": 14,
          "intron_rank": 1,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "n.293+40150T>G",
          "hgvs_p": null,
          "transcript": "XR_007060007.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2453,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        }
      ],
      "gene_symbol": "OSBPL3",
      "gene_hgnc_id": 16370,
      "dbsnp": "rs757139",
      "frequency_reference_population": 0.42820752,
      "hom_count_reference_population": 14567,
      "allele_count_reference_population": 65055,
      "gnomad_exomes_af": null,
      "gnomad_genomes_af": 0.428208,
      "gnomad_exomes_ac": null,
      "gnomad_genomes_ac": 65055,
      "gnomad_exomes_homalt": null,
      "gnomad_genomes_homalt": 14567,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": -0.8799999952316284,
      "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": -0.88,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": -0.876,
      "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": "NM_015550.4",
          "gene_symbol": "OSBPL3",
          "hgnc_id": 16370,
          "effects": [
            "intron_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.-150+40150T>G",
          "hgvs_p": null
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}