← 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: 12-76554580-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=76554580&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 76554580,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_020841.5",
"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": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-68+4817C>G",
"hgvs_p": null,
"transcript": "NM_020841.5",
"protein_id": "NP_065892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 889,
"cds_start": null,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7204,
"mane_select": "ENST00000261183.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020841.5"
},
{
"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": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-68+4817C>G",
"hgvs_p": null,
"transcript": "ENST00000261183.8",
"protein_id": "ENSP00000261183.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 889,
"cds_start": null,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7204,
"mane_select": "NM_020841.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261183.8"
},
{
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-273+4817C>G",
"hgvs_p": null,
"transcript": "ENST00000393249.6",
"protein_id": "ENSP00000376939.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 847,
"cds_start": null,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393249.6"
},
{
"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": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-194+4817C>G",
"hgvs_p": null,
"transcript": "ENST00000611266.4",
"protein_id": "ENSP00000478240.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 847,
"cds_start": null,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611266.4"
},
{
"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": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-68+4817C>G",
"hgvs_p": null,
"transcript": "ENST00000547540.5",
"protein_id": "ENSP00000450238.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 720,
"cds_start": null,
"cds_end": null,
"cds_length": 2164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547540.5"
},
{
"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": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-68+3990C>G",
"hgvs_p": null,
"transcript": "ENST00000951801.1",
"protein_id": "ENSP00000621860.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 889,
"cds_start": null,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951801.1"
},
{
"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": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-68+4817C>G",
"hgvs_p": null,
"transcript": "NM_001319653.2",
"protein_id": "NP_001306582.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 886,
"cds_start": null,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319653.2"
},
{
"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": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-148+4817C>G",
"hgvs_p": null,
"transcript": "NM_001003712.2",
"protein_id": "NP_001003712.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 847,
"cds_start": null,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003712.2"
},
{
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-273+4817C>G",
"hgvs_p": null,
"transcript": "NM_001319652.2",
"protein_id": "NP_001306581.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 847,
"cds_start": null,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319652.2"
},
{
"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": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-148+4817C>G",
"hgvs_p": null,
"transcript": "ENST00000393250.8",
"protein_id": "ENSP00000376940.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 847,
"cds_start": null,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393250.8"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-157+4817C>G",
"hgvs_p": null,
"transcript": "ENST00000553139.5",
"protein_id": "ENSP00000449618.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": null,
"cds_end": null,
"cds_length": 334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553139.5"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-187+4817C>G",
"hgvs_p": null,
"transcript": "ENST00000549570.5",
"protein_id": "ENSP00000449919.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 75,
"cds_start": null,
"cds_end": null,
"cds_length": 230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549570.5"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-184+4817C>G",
"hgvs_p": null,
"transcript": "ENST00000551927.5",
"protein_id": "ENSP00000447744.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 57,
"cds_start": null,
"cds_end": null,
"cds_length": 175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551927.5"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-98+4817C>G",
"hgvs_p": null,
"transcript": "ENST00000547544.5",
"protein_id": "ENSP00000447235.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 51,
"cds_start": null,
"cds_end": null,
"cds_length": 158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547544.5"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-68+4817C>G",
"hgvs_p": null,
"transcript": "ENST00000549646.5",
"protein_id": "ENSP00000448394.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": null,
"cds_end": null,
"cds_length": 124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 588,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549646.5"
},
{
"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": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-68+4817C>G",
"hgvs_p": null,
"transcript": "ENST00000550628.5",
"protein_id": "ENSP00000447483.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 27,
"cds_start": null,
"cds_end": null,
"cds_length": 85,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550628.5"
},
{
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.2+3990C>G",
"hgvs_p": null,
"transcript": "XM_047428246.1",
"protein_id": "XP_047284202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 925,
"cds_start": null,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428246.1"
},
{
"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": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.2+3990C>G",
"hgvs_p": null,
"transcript": "XM_017018768.3",
"protein_id": "XP_016874257.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 912,
"cds_start": null,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018768.3"
},
{
"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": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.2+3990C>G",
"hgvs_p": null,
"transcript": "XM_047428247.1",
"protein_id": "XP_047284203.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 909,
"cds_start": null,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428247.1"
},
{
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-68+4817C>G",
"hgvs_p": null,
"transcript": "XM_011537856.4",
"protein_id": "XP_011536158.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 902,
"cds_start": null,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537856.4"
},
{
"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": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-136+4817C>G",
"hgvs_p": null,
"transcript": "XM_011537857.4",
"protein_id": "XP_011536159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 902,
"cds_start": null,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537857.4"
},
{
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-184+3990C>G",
"hgvs_p": null,
"transcript": "XM_047428248.1",
"protein_id": "XP_047284204.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 902,
"cds_start": null,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428248.1"
},
{
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-98+4817C>G",
"hgvs_p": null,
"transcript": "XM_047428249.1",
"protein_id": "XP_047284205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 902,
"cds_start": null,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428249.1"
},
{
"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": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-184+4817C>G",
"hgvs_p": null,
"transcript": "XM_005268621.6",
"protein_id": "XP_005268678.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 889,
"cds_start": null,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7320,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268621.6"
},
{
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-136+4817C>G",
"hgvs_p": null,
"transcript": "XM_047428250.1",
"protein_id": "XP_047284206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 889,
"cds_start": null,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7272,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428250.1"
},
{
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-98+4817C>G",
"hgvs_p": null,
"transcript": "XM_047428251.1",
"protein_id": "XP_047284207.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 889,
"cds_start": null,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428251.1"
},
{
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-98+4817C>G",
"hgvs_p": null,
"transcript": "XM_017018769.3",
"protein_id": "XP_016874258.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 886,
"cds_start": null,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018769.3"
},
{
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "c.-264+4817C>G",
"hgvs_p": null,
"transcript": "XM_047428254.1",
"protein_id": "XP_047284210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 847,
"cds_start": null,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428254.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"hgvs_c": "n.132+4817C>G",
"hgvs_p": null,
"transcript": "ENST00000552178.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 269,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000552178.1"
}
],
"gene_symbol": "OSBPL8",
"gene_hgnc_id": 16396,
"dbsnp": "rs1040002",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"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": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.254,
"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": "NM_020841.5",
"gene_symbol": "OSBPL8",
"hgnc_id": 16396,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-68+4817C>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
}