← 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: 7-24830877-G-T (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=24830877&ref=G&alt=T&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "7",
      "pos": 24830877,
      "ref": "G",
      "alt": "T",
      "effect": "missense_variant",
      "transcript": "NM_015550.4",
      "consequences": [
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1775C>A",
          "hgvs_p": "p.Ala592Glu",
          "transcript": "NM_015550.4",
          "protein_id": "NP_056365.1",
          "transcript_support_level": null,
          "aa_start": 592,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": 1775,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": 2217,
          "cdna_end": null,
          "cdna_length": 6749,
          "mane_select": "ENST00000313367.7",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_015550.4"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1775C>A",
          "hgvs_p": "p.Ala592Glu",
          "transcript": "ENST00000313367.7",
          "protein_id": "ENSP00000315410.2",
          "transcript_support_level": 1,
          "aa_start": 592,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": 1775,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": 2217,
          "cdna_end": null,
          "cdna_length": 6749,
          "mane_select": "NM_015550.4",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000313367.7"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1682C>A",
          "hgvs_p": "p.Ala561Glu",
          "transcript": "ENST00000396431.5",
          "protein_id": "ENSP00000379708.1",
          "transcript_support_level": 1,
          "aa_start": 561,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": 1682,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": 1822,
          "cdna_end": null,
          "cdna_length": 2969,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396431.5"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1667C>A",
          "hgvs_p": "p.Ala556Glu",
          "transcript": "ENST00000396429.5",
          "protein_id": "ENSP00000379706.1",
          "transcript_support_level": 1,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 851,
          "cds_start": 1667,
          "cds_end": null,
          "cds_length": 2556,
          "cdna_start": 1770,
          "cdna_end": null,
          "cdna_length": 2707,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000396429.5"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1574C>A",
          "hgvs_p": "p.Ala525Glu",
          "transcript": "ENST00000409069.5",
          "protein_id": "ENSP00000386953.1",
          "transcript_support_level": 1,
          "aa_start": 525,
          "aa_end": null,
          "aa_length": 820,
          "cds_start": 1574,
          "cds_end": null,
          "cds_length": 2463,
          "cdna_start": 1677,
          "cdna_end": null,
          "cdna_length": 2614,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000409069.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "n.*245C>A",
          "hgvs_p": null,
          "transcript": "ENST00000409452.5",
          "protein_id": "ENSP00000386801.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3344,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000409452.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "n.*245C>A",
          "hgvs_p": null,
          "transcript": "ENST00000409863.5",
          "protein_id": "ENSP00000386429.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3490,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000409863.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "n.*245C>A",
          "hgvs_p": null,
          "transcript": "ENST00000409452.5",
          "protein_id": "ENSP00000386801.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3344,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000409452.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "n.*245C>A",
          "hgvs_p": null,
          "transcript": "ENST00000409863.5",
          "protein_id": "ENSP00000386429.1",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3490,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000409863.5"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1745C>A",
          "hgvs_p": "p.Ala582Glu",
          "transcript": "ENST00000969022.1",
          "protein_id": "ENSP00000639081.1",
          "transcript_support_level": null,
          "aa_start": 582,
          "aa_end": null,
          "aa_length": 877,
          "cds_start": 1745,
          "cds_end": null,
          "cds_length": 2634,
          "cdna_start": 2201,
          "cdna_end": null,
          "cdna_length": 6718,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000969022.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1733C>A",
          "hgvs_p": "p.Ala578Glu",
          "transcript": "ENST00000940424.1",
          "protein_id": "ENSP00000610483.1",
          "transcript_support_level": null,
          "aa_start": 578,
          "aa_end": null,
          "aa_length": 873,
          "cds_start": 1733,
          "cds_end": null,
          "cds_length": 2622,
          "cdna_start": 2164,
          "cdna_end": null,
          "cdna_length": 6116,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000940424.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1721C>A",
          "hgvs_p": "p.Ala574Glu",
          "transcript": "ENST00000898370.1",
          "protein_id": "ENSP00000568429.1",
          "transcript_support_level": null,
          "aa_start": 574,
          "aa_end": null,
          "aa_length": 869,
          "cds_start": 1721,
          "cds_end": null,
          "cds_length": 2610,
          "cdna_start": 2111,
          "cdna_end": null,
          "cdna_length": 3711,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000898370.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1682C>A",
          "hgvs_p": "p.Ala561Glu",
          "transcript": "NM_145320.2",
          "protein_id": "NP_663160.1",
          "transcript_support_level": null,
          "aa_start": 561,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": 1682,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": 1831,
          "cdna_end": null,
          "cdna_length": 6366,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_145320.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1667C>A",
          "hgvs_p": "p.Ala556Glu",
          "transcript": "NM_145321.2",
          "protein_id": "NP_663161.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 851,
          "cds_start": 1667,
          "cds_end": null,
          "cds_length": 2556,
          "cdna_start": 1816,
          "cdna_end": null,
          "cdna_length": 6351,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_145321.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1574C>A",
          "hgvs_p": "p.Ala525Glu",
          "transcript": "NM_145322.2",
          "protein_id": "NP_663162.1",
          "transcript_support_level": null,
          "aa_start": 525,
          "aa_end": null,
          "aa_length": 820,
          "cds_start": 1574,
          "cds_end": null,
          "cds_length": 2463,
          "cdna_start": 1723,
          "cdna_end": null,
          "cdna_length": 6258,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_145322.2"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1574C>A",
          "hgvs_p": "p.Ala525Glu",
          "transcript": "ENST00000940423.1",
          "protein_id": "ENSP00000610482.1",
          "transcript_support_level": null,
          "aa_start": 525,
          "aa_end": null,
          "aa_length": 820,
          "cds_start": 1574,
          "cds_end": null,
          "cds_length": 2463,
          "cdna_start": 1997,
          "cdna_end": null,
          "cdna_length": 6529,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000940423.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1532C>A",
          "hgvs_p": "p.Ala511Glu",
          "transcript": "ENST00000940425.1",
          "protein_id": "ENSP00000610484.1",
          "transcript_support_level": null,
          "aa_start": 511,
          "aa_end": null,
          "aa_length": 806,
          "cds_start": 1532,
          "cds_end": null,
          "cds_length": 2421,
          "cdna_start": 1949,
          "cdna_end": null,
          "cdna_length": 3102,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000940425.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1841C>A",
          "hgvs_p": "p.Ala614Glu",
          "transcript": "XM_047420129.1",
          "protein_id": "XP_047276085.1",
          "transcript_support_level": null,
          "aa_start": 614,
          "aa_end": null,
          "aa_length": 909,
          "cds_start": 1841,
          "cds_end": null,
          "cds_length": 2730,
          "cdna_start": 2283,
          "cdna_end": null,
          "cdna_length": 6818,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420129.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1841C>A",
          "hgvs_p": "p.Ala614Glu",
          "transcript": "XM_047420130.1",
          "protein_id": "XP_047276086.1",
          "transcript_support_level": null,
          "aa_start": 614,
          "aa_end": null,
          "aa_length": 909,
          "cds_start": 1841,
          "cds_end": null,
          "cds_length": 2730,
          "cdna_start": 2171,
          "cdna_end": null,
          "cdna_length": 6706,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420130.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1841C>A",
          "hgvs_p": "p.Ala614Glu",
          "transcript": "XM_047420131.1",
          "protein_id": "XP_047276087.1",
          "transcript_support_level": null,
          "aa_start": 614,
          "aa_end": null,
          "aa_length": 909,
          "cds_start": 1841,
          "cds_end": null,
          "cds_length": 2730,
          "cdna_start": 2306,
          "cdna_end": null,
          "cdna_length": 6841,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420131.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 24,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1841C>A",
          "hgvs_p": "p.Ala614Glu",
          "transcript": "XM_047420132.1",
          "protein_id": "XP_047276088.1",
          "transcript_support_level": null,
          "aa_start": 614,
          "aa_end": null,
          "aa_length": 909,
          "cds_start": 1841,
          "cds_end": null,
          "cds_length": 2730,
          "cdna_start": 2081,
          "cdna_end": null,
          "cdna_length": 6616,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420132.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 18,
          "exon_rank_end": null,
          "exon_count": 25,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1841C>A",
          "hgvs_p": "p.Ala614Glu",
          "transcript": "XM_047420133.1",
          "protein_id": "XP_047276089.1",
          "transcript_support_level": null,
          "aa_start": 614,
          "aa_end": null,
          "aa_length": 909,
          "cds_start": 1841,
          "cds_end": null,
          "cds_length": 2730,
          "cdna_start": 3394,
          "cdna_end": null,
          "cdna_length": 7929,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420133.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1775C>A",
          "hgvs_p": "p.Ala592Glu",
          "transcript": "XM_005249698.4",
          "protein_id": "XP_005249755.1",
          "transcript_support_level": null,
          "aa_start": 592,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": 1775,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": 2015,
          "cdna_end": null,
          "cdna_length": 6550,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_005249698.4"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1775C>A",
          "hgvs_p": "p.Ala592Glu",
          "transcript": "XM_011515258.3",
          "protein_id": "XP_011513560.1",
          "transcript_support_level": null,
          "aa_start": 592,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": 1775,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": 2105,
          "cdna_end": null,
          "cdna_length": 6640,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_011515258.3"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1775C>A",
          "hgvs_p": "p.Ala592Glu",
          "transcript": "XM_047420134.1",
          "protein_id": "XP_047276090.1",
          "transcript_support_level": null,
          "aa_start": 592,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": 1775,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": 2240,
          "cdna_end": null,
          "cdna_length": 6775,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420134.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1775C>A",
          "hgvs_p": "p.Ala592Glu",
          "transcript": "XM_047420135.1",
          "protein_id": "XP_047276091.1",
          "transcript_support_level": null,
          "aa_start": 592,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": 1775,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": 3464,
          "cdna_end": null,
          "cdna_length": 7999,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420135.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1775C>A",
          "hgvs_p": "p.Ala592Glu",
          "transcript": "XM_047420136.1",
          "protein_id": "XP_047276092.1",
          "transcript_support_level": null,
          "aa_start": 592,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": 1775,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": 2369,
          "cdna_end": null,
          "cdna_length": 6904,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420136.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1775C>A",
          "hgvs_p": "p.Ala592Glu",
          "transcript": "XM_047420137.1",
          "protein_id": "XP_047276093.1",
          "transcript_support_level": null,
          "aa_start": 592,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": 1775,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": 2371,
          "cdna_end": null,
          "cdna_length": 6906,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420137.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1775C>A",
          "hgvs_p": "p.Ala592Glu",
          "transcript": "XM_047420138.1",
          "protein_id": "XP_047276094.1",
          "transcript_support_level": null,
          "aa_start": 592,
          "aa_end": null,
          "aa_length": 887,
          "cds_start": 1775,
          "cds_end": null,
          "cds_length": 2664,
          "cdna_start": 3558,
          "cdna_end": null,
          "cdna_length": 8093,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420138.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1748C>A",
          "hgvs_p": "p.Ala583Glu",
          "transcript": "XM_047420139.1",
          "protein_id": "XP_047276095.1",
          "transcript_support_level": null,
          "aa_start": 583,
          "aa_end": null,
          "aa_length": 878,
          "cds_start": 1748,
          "cds_end": null,
          "cds_length": 2637,
          "cdna_start": 2190,
          "cdna_end": null,
          "cdna_length": 6725,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420139.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1748C>A",
          "hgvs_p": "p.Ala583Glu",
          "transcript": "XM_047420140.1",
          "protein_id": "XP_047276096.1",
          "transcript_support_level": null,
          "aa_start": 583,
          "aa_end": null,
          "aa_length": 878,
          "cds_start": 1748,
          "cds_end": null,
          "cds_length": 2637,
          "cdna_start": 1988,
          "cdna_end": null,
          "cdna_length": 6523,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420140.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1748C>A",
          "hgvs_p": "p.Ala583Glu",
          "transcript": "XM_047420141.1",
          "protein_id": "XP_047276097.1",
          "transcript_support_level": null,
          "aa_start": 583,
          "aa_end": null,
          "aa_length": 878,
          "cds_start": 1748,
          "cds_end": null,
          "cds_length": 2637,
          "cdna_start": 2078,
          "cdna_end": null,
          "cdna_length": 6613,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420141.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1733C>A",
          "hgvs_p": "p.Ala578Glu",
          "transcript": "XM_047420142.1",
          "protein_id": "XP_047276098.1",
          "transcript_support_level": null,
          "aa_start": 578,
          "aa_end": null,
          "aa_length": 873,
          "cds_start": 1733,
          "cds_end": null,
          "cds_length": 2622,
          "cdna_start": 2175,
          "cdna_end": null,
          "cdna_length": 6710,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420142.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1682C>A",
          "hgvs_p": "p.Ala561Glu",
          "transcript": "XM_006715681.4",
          "protein_id": "XP_006715744.1",
          "transcript_support_level": null,
          "aa_start": 561,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": 1682,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": 2124,
          "cdna_end": null,
          "cdna_length": 6659,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_006715681.4"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1682C>A",
          "hgvs_p": "p.Ala561Glu",
          "transcript": "XM_047420143.1",
          "protein_id": "XP_047276099.1",
          "transcript_support_level": null,
          "aa_start": 561,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": 1682,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": 1922,
          "cdna_end": null,
          "cdna_length": 6457,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420143.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1682C>A",
          "hgvs_p": "p.Ala561Glu",
          "transcript": "XM_047420144.1",
          "protein_id": "XP_047276100.1",
          "transcript_support_level": null,
          "aa_start": 561,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": 1682,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": 2012,
          "cdna_end": null,
          "cdna_length": 6547,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420144.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1682C>A",
          "hgvs_p": "p.Ala561Glu",
          "transcript": "XM_047420145.1",
          "protein_id": "XP_047276101.1",
          "transcript_support_level": null,
          "aa_start": 561,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": 1682,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": 2278,
          "cdna_end": null,
          "cdna_length": 6813,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420145.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1682C>A",
          "hgvs_p": "p.Ala561Glu",
          "transcript": "XM_047420146.1",
          "protein_id": "XP_047276102.1",
          "transcript_support_level": null,
          "aa_start": 561,
          "aa_end": null,
          "aa_length": 856,
          "cds_start": 1682,
          "cds_end": null,
          "cds_length": 2571,
          "cdna_start": 2147,
          "cdna_end": null,
          "cdna_length": 6682,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420146.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1667C>A",
          "hgvs_p": "p.Ala556Glu",
          "transcript": "XM_006715682.4",
          "protein_id": "XP_006715745.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 851,
          "cds_start": 1667,
          "cds_end": null,
          "cds_length": 2556,
          "cdna_start": 2109,
          "cdna_end": null,
          "cdna_length": 6644,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_006715682.4"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1667C>A",
          "hgvs_p": "p.Ala556Glu",
          "transcript": "XM_047420147.1",
          "protein_id": "XP_047276103.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 851,
          "cds_start": 1667,
          "cds_end": null,
          "cds_length": 2556,
          "cdna_start": 1997,
          "cdna_end": null,
          "cdna_length": 6532,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420147.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1667C>A",
          "hgvs_p": "p.Ala556Glu",
          "transcript": "XM_047420148.1",
          "protein_id": "XP_047276104.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 851,
          "cds_start": 1667,
          "cds_end": null,
          "cds_length": 2556,
          "cdna_start": 2258,
          "cdna_end": null,
          "cdna_length": 6793,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420148.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1667C>A",
          "hgvs_p": "p.Ala556Glu",
          "transcript": "XM_047420149.1",
          "protein_id": "XP_047276105.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 851,
          "cds_start": 1667,
          "cds_end": null,
          "cds_length": 2556,
          "cdna_start": 3451,
          "cdna_end": null,
          "cdna_length": 7986,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420149.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1667C>A",
          "hgvs_p": "p.Ala556Glu",
          "transcript": "XM_047420150.1",
          "protein_id": "XP_047276106.1",
          "transcript_support_level": null,
          "aa_start": 556,
          "aa_end": null,
          "aa_length": 851,
          "cds_start": 1667,
          "cds_end": null,
          "cds_length": 2556,
          "cdna_start": 1907,
          "cdna_end": null,
          "cdna_length": 6442,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420150.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1574C>A",
          "hgvs_p": "p.Ala525Glu",
          "transcript": "XM_006715683.4",
          "protein_id": "XP_006715746.1",
          "transcript_support_level": null,
          "aa_start": 525,
          "aa_end": null,
          "aa_length": 820,
          "cds_start": 1574,
          "cds_end": null,
          "cds_length": 2463,
          "cdna_start": 2016,
          "cdna_end": null,
          "cdna_length": 6551,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_006715683.4"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1574C>A",
          "hgvs_p": "p.Ala525Glu",
          "transcript": "XM_047420151.1",
          "protein_id": "XP_047276107.1",
          "transcript_support_level": null,
          "aa_start": 525,
          "aa_end": null,
          "aa_length": 820,
          "cds_start": 1574,
          "cds_end": null,
          "cds_length": 2463,
          "cdna_start": 1904,
          "cdna_end": null,
          "cdna_length": 6439,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420151.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 17,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1841C>A",
          "hgvs_p": "p.Ala614Glu",
          "transcript": "XM_047420152.1",
          "protein_id": "XP_047276108.1",
          "transcript_support_level": null,
          "aa_start": 614,
          "aa_end": null,
          "aa_length": 796,
          "cds_start": 1841,
          "cds_end": null,
          "cds_length": 2391,
          "cdna_start": 2283,
          "cdna_end": null,
          "cdna_length": 2877,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420152.1"
        },
        {
          "aa_ref": "A",
          "aa_alt": "E",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.782C>A",
          "hgvs_p": "p.Ala261Glu",
          "transcript": "XM_047420153.1",
          "protein_id": "XP_047276109.1",
          "transcript_support_level": null,
          "aa_start": 261,
          "aa_end": null,
          "aa_length": 556,
          "cds_start": 782,
          "cds_end": null,
          "cds_length": 1671,
          "cdna_start": 886,
          "cdna_end": null,
          "cdna_length": 5421,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_047420153.1"
        },
        {
          "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": 15,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "c.1746+3609C>A",
          "hgvs_p": null,
          "transcript": "ENST00000898371.1",
          "protein_id": "ENSP00000568430.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 841,
          "cds_start": null,
          "cds_end": null,
          "cds_length": 2526,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3201,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000898371.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "n.*245C>A",
          "hgvs_p": null,
          "transcript": "ENST00000409555.5",
          "protein_id": "ENSP00000386990.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3088,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000409555.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "n.*245C>A",
          "hgvs_p": null,
          "transcript": "ENST00000409759.5",
          "protein_id": "ENSP00000386325.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3219,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000409759.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 15,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "n.2323C>A",
          "hgvs_p": null,
          "transcript": "NR_104111.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6858,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "NR_104111.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "n.2230C>A",
          "hgvs_p": null,
          "transcript": "NR_104112.1",
          "protein_id": null,
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 6765,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "NR_104112.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "non_coding_transcript_exon_variant"
          ],
          "exon_rank": 16,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "n.2616C>A",
          "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": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 2676,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "XR_007060001.1"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 20,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "n.*245C>A",
          "hgvs_p": null,
          "transcript": "ENST00000409555.5",
          "protein_id": "ENSP00000386990.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3088,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000409555.5"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": false,
          "consequences": [
            "3_prime_UTR_variant"
          ],
          "exon_rank": 14,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "OSBPL3",
          "gene_hgnc_id": 16370,
          "hgvs_c": "n.*245C>A",
          "hgvs_p": null,
          "transcript": "ENST00000409759.5",
          "protein_id": "ENSP00000386325.1",
          "transcript_support_level": 5,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 3219,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "nonsense_mediated_decay",
          "feature": "ENST00000409759.5"
        }
      ],
      "gene_symbol": "OSBPL3",
      "gene_hgnc_id": 16370,
      "dbsnp": "rs770096961",
      "frequency_reference_population": 6.8467733e-7,
      "hom_count_reference_population": 0,
      "allele_count_reference_population": 1,
      "gnomad_exomes_af": 6.84677e-7,
      "gnomad_genomes_af": null,
      "gnomad_exomes_ac": 1,
      "gnomad_genomes_ac": null,
      "gnomad_exomes_homalt": 0,
      "gnomad_genomes_homalt": null,
      "gnomad_mito_homoplasmic": null,
      "gnomad_mito_heteroplasmic": null,
      "computational_score_selected": 0.9064951539039612,
      "computational_prediction_selected": "Pathogenic",
      "computational_source_selected": "MetaRNN",
      "splice_score_selected": 0,
      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
      "revel_score": 0.25,
      "revel_prediction": "Benign",
      "alphamissense_score": 0.874,
      "alphamissense_prediction": null,
      "bayesdelnoaf_score": -0.14,
      "bayesdelnoaf_prediction": "Benign",
      "phylop100way_score": 5.824,
      "phylop100way_prediction": "Uncertain_significance",
      "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": 4,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM2,PP3_Moderate",
      "acmg_by_gene": [
        {
          "score": 4,
          "benign_score": 0,
          "pathogenic_score": 4,
          "criteria": [
            "PM2",
            "PP3_Moderate"
          ],
          "verdict": "Uncertain_significance",
          "transcript": "NM_015550.4",
          "gene_symbol": "OSBPL3",
          "hgnc_id": 16370,
          "effects": [
            "missense_variant"
          ],
          "inheritance_mode": "AR",
          "hgvs_c": "c.1775C>A",
          "hgvs_p": "p.Ala592Glu"
        }
      ],
      "clinvar_disease": "",
      "clinvar_classification": "",
      "clinvar_review_status": "",
      "clinvar_submissions_summary": "",
      "phenotype_combined": null,
      "pathogenicity_classification_combined": null,
      "custom_annotations": null
    }
  ],
  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.