← 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: 2-178331553-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178331553&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178331553,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_032523.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "NM_032523.4",
"protein_id": "NP_115912.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 934,
"cds_start": 320,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 10652,
"mane_select": "ENST00000190611.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "ENST00000190611.9",
"protein_id": "ENSP00000190611.4",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 934,
"cds_start": 320,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 10652,
"mane_select": "NM_032523.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "ENST00000392505.6",
"protein_id": "ENSP00000376293.2",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 959,
"cds_start": 320,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "ENST00000409631.5",
"protein_id": "ENSP00000386885.1",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 898,
"cds_start": 320,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "ENST00000357080.8",
"protein_id": "ENSP00000349591.4",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 508,
"cds_start": 320,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "NM_001201480.2",
"protein_id": "NP_001188409.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 959,
"cds_start": 320,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 10727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"transcript": "NM_145739.3",
"protein_id": "NP_665682.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 938,
"cds_start": 257,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 10273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"transcript": "ENST00000315022.2",
"protein_id": "ENSP00000318723.2",
"transcript_support_level": 2,
"aa_start": 86,
"aa_end": null,
"aa_length": 938,
"cds_start": 257,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 2999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "NM_001201481.2",
"protein_id": "NP_001188410.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 903,
"cds_start": 320,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 10559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "ENST00000409045.7",
"protein_id": "ENSP00000387248.3",
"transcript_support_level": 2,
"aa_start": 107,
"aa_end": null,
"aa_length": 903,
"cds_start": 320,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 822,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "NM_001201482.2",
"protein_id": "NP_001188411.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 898,
"cds_start": 320,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 10544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "ENST00000359685.7",
"protein_id": "ENSP00000352713.3",
"transcript_support_level": 5,
"aa_start": 107,
"aa_end": null,
"aa_length": 898,
"cds_start": 320,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 7114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "XM_017003265.3",
"protein_id": "XP_016858754.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 981,
"cds_start": 386,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 10803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "XM_047443123.1",
"protein_id": "XP_047299079.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 981,
"cds_start": 386,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 10974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_017003266.2",
"protein_id": "XP_016858755.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 959,
"cds_start": 320,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 10815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_017003267.3",
"protein_id": "XP_016858756.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 959,
"cds_start": 320,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 10688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443124.1",
"protein_id": "XP_047299080.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 959,
"cds_start": 320,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 10811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "XM_047443125.1",
"protein_id": "XP_047299081.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 956,
"cds_start": 386,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 10728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443126.1",
"protein_id": "XP_047299082.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 934,
"cds_start": 320,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 10740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443127.1",
"protein_id": "XP_047299083.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 934,
"cds_start": 320,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 10736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443129.1",
"protein_id": "XP_047299085.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 934,
"cds_start": 320,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 10823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443130.1",
"protein_id": "XP_047299086.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 934,
"cds_start": 320,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 10653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443131.1",
"protein_id": "XP_047299087.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 934,
"cds_start": 320,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 10613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443132.1",
"protein_id": "XP_047299088.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 934,
"cds_start": 320,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 10697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Arg76His",
"transcript": "XM_011510539.3",
"protein_id": "XP_011508841.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 928,
"cds_start": 227,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 10634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443134.1",
"protein_id": "XP_047299090.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 928,
"cds_start": 320,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 10634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443144.1",
"protein_id": "XP_047299100.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 928,
"cds_start": 320,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 10718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Arg76His",
"transcript": "XM_047443145.1",
"protein_id": "XP_047299101.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 928,
"cds_start": 227,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 10722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Arg76His",
"transcript": "XM_047443146.1",
"protein_id": "XP_047299102.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 928,
"cds_start": 227,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 10637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "XM_047443147.1",
"protein_id": "XP_047299103.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 925,
"cds_start": 386,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 10635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_017003268.3",
"protein_id": "XP_016858757.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 923,
"cds_start": 320,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 10619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_017003269.3",
"protein_id": "XP_016858758.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 923,
"cds_start": 320,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 10580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443149.1",
"protein_id": "XP_047299105.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 923,
"cds_start": 320,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 10790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443150.1",
"protein_id": "XP_047299106.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 923,
"cds_start": 320,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 10621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Arg76His",
"transcript": "XM_047443151.1",
"protein_id": "XP_047299107.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 903,
"cds_start": 227,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 10559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443152.1",
"protein_id": "XP_047299108.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 903,
"cds_start": 320,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 10647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443153.1",
"protein_id": "XP_047299109.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 903,
"cds_start": 320,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 10643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443154.1",
"protein_id": "XP_047299110.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 903,
"cds_start": 320,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 10559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443155.1",
"protein_id": "XP_047299111.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 903,
"cds_start": 320,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 10520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Arg76His",
"transcript": "XM_047443156.1",
"protein_id": "XP_047299112.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 903,
"cds_start": 227,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 10647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Arg76His",
"transcript": "XM_047443158.1",
"protein_id": "XP_047299114.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 903,
"cds_start": 227,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 10520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_017003271.3",
"protein_id": "XP_016858760.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 898,
"cds_start": 320,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 10505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443159.1",
"protein_id": "XP_047299115.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 898,
"cds_start": 320,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 10632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443160.1",
"protein_id": "XP_047299116.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 898,
"cds_start": 320,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 10628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Arg76His",
"transcript": "XM_047443161.1",
"protein_id": "XP_047299117.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 897,
"cds_start": 227,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 10541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Arg76His",
"transcript": "XM_017003272.3",
"protein_id": "XP_016858761.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 892,
"cds_start": 227,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 10526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443162.1",
"protein_id": "XP_047299118.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 892,
"cds_start": 320,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 10526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Arg76His",
"transcript": "XM_017003273.3",
"protein_id": "XP_016858762.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 872,
"cds_start": 227,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 10466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Arg76His",
"transcript": "XM_047443163.1",
"protein_id": "XP_047299119.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 872,
"cds_start": 227,
"cds_end": null,
"cds_length": 2619,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 10427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_017003274.3",
"protein_id": "XP_016858763.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 867,
"cds_start": 320,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 10451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Arg76His",
"transcript": "XM_017003276.3",
"protein_id": "XP_016858765.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 867,
"cds_start": 227,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 10451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443165.1",
"protein_id": "XP_047299121.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 867,
"cds_start": 320,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 10451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443166.1",
"protein_id": "XP_047299122.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 867,
"cds_start": 320,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 10412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.44G>A",
"hgvs_p": "p.Arg15His",
"transcript": "XM_047443167.1",
"protein_id": "XP_047299123.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 842,
"cds_start": 44,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 10055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Arg76His",
"transcript": "XM_017003277.3",
"protein_id": "XP_016858766.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 836,
"cds_start": 227,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 10358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.227G>A",
"hgvs_p": "p.Arg76His",
"transcript": "XM_047443168.1",
"protein_id": "XP_047299124.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 836,
"cds_start": 227,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 10319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "XM_047443169.1",
"protein_id": "XP_047299125.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 508,
"cds_start": 320,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 833,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"hgvs_c": "n.429G>A",
"hgvs_p": null,
"transcript": "ENST00000477097.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "OSBPL6",
"gene_hgnc_id": 16388,
"dbsnp": "rs762943454",
"frequency_reference_population": 0.000035939083,
"hom_count_reference_population": 0,
"allele_count_reference_population": 58,
"gnomad_exomes_af": 0.0000362585,
"gnomad_genomes_af": 0.0000328697,
"gnomad_exomes_ac": 53,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9571560621261597,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8619999885559082,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.764,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9972,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.904,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.13,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.985776660398111,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032523.4",
"gene_symbol": "OSBPL6",
"hgnc_id": 16388,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}