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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: 3-31683823-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=31683823&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 31683823,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_017784.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1537G>T",
"hgvs_p": "p.Glu513*",
"transcript": "NM_017784.5",
"protein_id": "NP_060254.2",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 764,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396556.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017784.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1537G>T",
"hgvs_p": "p.Glu513*",
"transcript": "ENST00000396556.7",
"protein_id": "ENSP00000379804.2",
"transcript_support_level": 1,
"aa_start": 513,
"aa_end": null,
"aa_length": 764,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017784.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396556.7"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Glu478*",
"transcript": "ENST00000959571.1",
"protein_id": "ENSP00000629630.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 729,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959571.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1387G>T",
"hgvs_p": "p.Glu463*",
"transcript": "ENST00000911816.1",
"protein_id": "ENSP00000581875.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 714,
"cds_start": 1387,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911816.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1345G>T",
"hgvs_p": "p.Glu449*",
"transcript": "NM_001174060.2",
"protein_id": "NP_001167531.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 700,
"cds_start": 1345,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174060.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1345G>T",
"hgvs_p": "p.Glu449*",
"transcript": "ENST00000438237.6",
"protein_id": "ENSP00000406124.2",
"transcript_support_level": 2,
"aa_start": 449,
"aa_end": null,
"aa_length": 700,
"cds_start": 1345,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438237.6"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1537G>T",
"hgvs_p": "p.Glu513*",
"transcript": "ENST00000911815.1",
"protein_id": "ENSP00000581874.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 592,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911815.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Glu478*",
"transcript": "ENST00000959572.1",
"protein_id": "ENSP00000629631.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 557,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959572.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.841G>T",
"hgvs_p": "p.Glu281*",
"transcript": "ENST00000429492.6",
"protein_id": "ENSP00000416078.2",
"transcript_support_level": 2,
"aa_start": 281,
"aa_end": null,
"aa_length": 537,
"cds_start": 841,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429492.6"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.925G>T",
"hgvs_p": "p.Glu309*",
"transcript": "ENST00000673388.1",
"protein_id": "ENSP00000500118.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 370,
"cds_start": 925,
"cds_end": null,
"cds_length": 1114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673388.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1537G>T",
"hgvs_p": "p.Glu513*",
"transcript": "XM_005264843.5",
"protein_id": "XP_005264900.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 769,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264843.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1345G>T",
"hgvs_p": "p.Glu449*",
"transcript": "XM_005264844.6",
"protein_id": "XP_005264901.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 705,
"cds_start": 1345,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264844.6"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1264G>T",
"hgvs_p": "p.Glu422*",
"transcript": "XM_047447385.1",
"protein_id": "XP_047303341.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 678,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447385.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1264G>T",
"hgvs_p": "p.Glu422*",
"transcript": "XM_047447386.1",
"protein_id": "XP_047303342.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 673,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447386.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1126G>T",
"hgvs_p": "p.Glu376*",
"transcript": "XM_047447387.1",
"protein_id": "XP_047303343.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 632,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447387.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1126G>T",
"hgvs_p": "p.Glu376*",
"transcript": "XM_047447388.1",
"protein_id": "XP_047303344.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 632,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447388.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1072G>T",
"hgvs_p": "p.Glu358*",
"transcript": "XM_047447389.1",
"protein_id": "XP_047303345.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 614,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447389.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1072G>T",
"hgvs_p": "p.Glu358*",
"transcript": "XM_047447390.1",
"protein_id": "XP_047303346.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 609,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447390.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1018G>T",
"hgvs_p": "p.Glu340*",
"transcript": "XM_047447392.1",
"protein_id": "XP_047303348.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 596,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447392.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1018G>T",
"hgvs_p": "p.Glu340*",
"transcript": "XM_047447393.1",
"protein_id": "XP_047303349.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 596,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447393.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1018G>T",
"hgvs_p": "p.Glu340*",
"transcript": "XM_047447391.1",
"protein_id": "XP_047303347.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 591,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447391.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.1018G>T",
"hgvs_p": "p.Glu340*",
"transcript": "XM_047447394.1",
"protein_id": "XP_047303350.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 591,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"verdict": "Uncertain_significance",
"transcript": "NM_017784.5",
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"effects": [
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"inheritance_mode": "",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}