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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: 3-31662083-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=31662083&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 31662083,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_017784.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.2284A>C",
"hgvs_p": "p.Lys762Gln",
"transcript": "NM_017784.5",
"protein_id": "NP_060254.2",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 764,
"cds_start": 2284,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2367,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": "ENST00000396556.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017784.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.2284A>C",
"hgvs_p": "p.Lys762Gln",
"transcript": "ENST00000396556.7",
"protein_id": "ENSP00000379804.2",
"transcript_support_level": 1,
"aa_start": 762,
"aa_end": null,
"aa_length": 764,
"cds_start": 2284,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2367,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": "NM_017784.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396556.7"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.2179A>C",
"hgvs_p": "p.Lys727Gln",
"transcript": "ENST00000959571.1",
"protein_id": "ENSP00000629630.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 729,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 4136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959571.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.2134A>C",
"hgvs_p": "p.Lys712Gln",
"transcript": "ENST00000911816.1",
"protein_id": "ENSP00000581875.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 714,
"cds_start": 2134,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2351,
"cdna_end": null,
"cdna_length": 3611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911816.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.2092A>C",
"hgvs_p": "p.Lys698Gln",
"transcript": "NM_001174060.2",
"protein_id": "NP_001167531.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 700,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 2175,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174060.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.2092A>C",
"hgvs_p": "p.Lys698Gln",
"transcript": "ENST00000438237.6",
"protein_id": "ENSP00000406124.2",
"transcript_support_level": 2,
"aa_start": 698,
"aa_end": null,
"aa_length": 700,
"cds_start": 2092,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 2213,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438237.6"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1768A>C",
"hgvs_p": "p.Lys590Gln",
"transcript": "ENST00000911815.1",
"protein_id": "ENSP00000581874.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 592,
"cds_start": 1768,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 6431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911815.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1663A>C",
"hgvs_p": "p.Lys555Gln",
"transcript": "ENST00000959572.1",
"protein_id": "ENSP00000629631.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 557,
"cds_start": 1663,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1787,
"cdna_end": null,
"cdna_length": 3044,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959572.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.2011A>C",
"hgvs_p": "p.Lys671Gln",
"transcript": "XM_047447386.1",
"protein_id": "XP_047303342.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 673,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2406,
"cdna_end": null,
"cdna_length": 3664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447386.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1819A>C",
"hgvs_p": "p.Lys607Gln",
"transcript": "XM_047447390.1",
"protein_id": "XP_047303346.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 609,
"cds_start": 1819,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447390.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1765A>C",
"hgvs_p": "p.Lys589Gln",
"transcript": "XM_047447391.1",
"protein_id": "XP_047303347.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 591,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 2191,
"cdna_end": null,
"cdna_length": 3449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447391.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1765A>C",
"hgvs_p": "p.Lys589Gln",
"transcript": "XM_047447394.1",
"protein_id": "XP_047303350.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 591,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 2042,
"cdna_end": null,
"cdna_length": 3300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447394.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1681A>C",
"hgvs_p": "p.Lys561Gln",
"transcript": "XM_047447395.1",
"protein_id": "XP_047303351.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 563,
"cds_start": 1681,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447395.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1276A>C",
"hgvs_p": "p.Lys426Gln",
"transcript": "XM_005264845.2",
"protein_id": "XP_005264902.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 428,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 2893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264845.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.*1936A>C",
"hgvs_p": null,
"transcript": "ENST00000429492.6",
"protein_id": "ENSP00000416078.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 537,
"cds_start": null,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429492.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "n.575A>C",
"hgvs_p": null,
"transcript": "ENST00000469557.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 584,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000469557.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.*1936A>C",
"hgvs_p": null,
"transcript": "XM_005264843.5",
"protein_id": "XP_005264900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": null,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4289,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264843.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.*1936A>C",
"hgvs_p": null,
"transcript": "XM_005264844.6",
"protein_id": "XP_005264901.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 705,
"cds_start": null,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264844.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.*1936A>C",
"hgvs_p": null,
"transcript": "XM_047447385.1",
"protein_id": "XP_047303341.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 678,
"cds_start": null,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447385.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.*1936A>C",
"hgvs_p": null,
"transcript": "XM_047447387.1",
"protein_id": "XP_047303343.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": null,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447387.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.*1936A>C",
"hgvs_p": null,
"transcript": "XM_047447388.1",
"protein_id": "XP_047303344.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": null,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447388.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.*1936A>C",
"hgvs_p": null,
"transcript": "XM_047447389.1",
"protein_id": "XP_047303345.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": null,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
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"feature": "XM_047447389.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "OSBPL10",
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"transcript": "XM_047447392.1",
"protein_id": "XP_047303348.1",
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"aa_end": null,
"aa_length": 596,
"cds_start": null,
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"biotype": "protein_coding",
"feature": "XM_047447392.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "OSBPL10",
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"hgvs_c": "c.*1936A>C",
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"transcript": "XM_047447393.1",
"protein_id": "XP_047303349.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 596,
"cds_start": null,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447393.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
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"hgvs_c": "c.*1936A>C",
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"transcript": "XM_017005670.3",
"protein_id": "XP_016861159.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 551,
"cds_start": null,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005670.3"
}
],
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"dbsnp": "rs764731911",
"frequency_reference_population": 0.000036556772,
"hom_count_reference_population": 0,
"allele_count_reference_population": 59,
"gnomad_exomes_af": 0.0000396781,
"gnomad_genomes_af": 0.00000657177,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5760620832443237,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.338,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1411,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.479,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017784.5",
"gene_symbol": "OSBPL10",
"hgnc_id": 16395,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2284A>C",
"hgvs_p": "p.Lys762Gln"
}
],
"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
}