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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: 3-31748090-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=31748090&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 31748090,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000396556.7",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.760A>C",
"hgvs_p": "p.Asn254His",
"transcript": "NM_017784.5",
"protein_id": "NP_060254.2",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 764,
"cds_start": 760,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": "ENST00000396556.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.760A>C",
"hgvs_p": "p.Asn254His",
"transcript": "ENST00000396556.7",
"protein_id": "ENSP00000379804.2",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 764,
"cds_start": 760,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": "NM_017784.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.568A>C",
"hgvs_p": "p.Asn190His",
"transcript": "NM_001174060.2",
"protein_id": "NP_001167531.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 700,
"cds_start": 568,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.568A>C",
"hgvs_p": "p.Asn190His",
"transcript": "ENST00000438237.6",
"protein_id": "ENSP00000406124.2",
"transcript_support_level": 2,
"aa_start": 190,
"aa_end": null,
"aa_length": 700,
"cds_start": 568,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 2624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.64A>C",
"hgvs_p": "p.Asn22His",
"transcript": "ENST00000429492.6",
"protein_id": "ENSP00000416078.2",
"transcript_support_level": 2,
"aa_start": 22,
"aa_end": null,
"aa_length": 537,
"cds_start": 64,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 66,
"cdna_end": null,
"cdna_length": 7723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.760A>C",
"hgvs_p": "p.Asn254His",
"transcript": "ENST00000698199.1",
"protein_id": "ENSP00000513603.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 392,
"cds_start": 760,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 1368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.148A>C",
"hgvs_p": "p.Asn50His",
"transcript": "ENST00000673388.1",
"protein_id": "ENSP00000500118.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 370,
"cds_start": 148,
"cds_end": null,
"cds_length": 1114,
"cdna_start": 148,
"cdna_end": null,
"cdna_length": 1114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.184A>C",
"hgvs_p": "p.Asn62His",
"transcript": "ENST00000428241.1",
"protein_id": "ENSP00000399200.1",
"transcript_support_level": 4,
"aa_start": 62,
"aa_end": null,
"aa_length": 172,
"cds_start": 184,
"cds_end": null,
"cds_length": 519,
"cdna_start": 184,
"cdna_end": null,
"cdna_length": 519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.760A>C",
"hgvs_p": "p.Asn254His",
"transcript": "XM_005264843.5",
"protein_id": "XP_005264900.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 769,
"cds_start": 760,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 4289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.568A>C",
"hgvs_p": "p.Asn190His",
"transcript": "XM_005264844.6",
"protein_id": "XP_005264901.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 705,
"cds_start": 568,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.487A>C",
"hgvs_p": "p.Asn163His",
"transcript": "XM_047447385.1",
"protein_id": "XP_047303341.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 678,
"cds_start": 487,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 776,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.487A>C",
"hgvs_p": "p.Asn163His",
"transcript": "XM_047447386.1",
"protein_id": "XP_047303342.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 673,
"cds_start": 487,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 3664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.349A>C",
"hgvs_p": "p.Asn117His",
"transcript": "XM_047447387.1",
"protein_id": "XP_047303343.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 632,
"cds_start": 349,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.349A>C",
"hgvs_p": "p.Asn117His",
"transcript": "XM_047447388.1",
"protein_id": "XP_047303344.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 632,
"cds_start": 349,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 4003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.295A>C",
"hgvs_p": "p.Asn99His",
"transcript": "XM_047447389.1",
"protein_id": "XP_047303345.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 614,
"cds_start": 295,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.295A>C",
"hgvs_p": "p.Asn99His",
"transcript": "XM_047447390.1",
"protein_id": "XP_047303346.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 609,
"cds_start": 295,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.241A>C",
"hgvs_p": "p.Asn81His",
"transcript": "XM_047447392.1",
"protein_id": "XP_047303348.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 596,
"cds_start": 241,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 3951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.241A>C",
"hgvs_p": "p.Asn81His",
"transcript": "XM_047447393.1",
"protein_id": "XP_047303349.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 596,
"cds_start": 241,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 3964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.241A>C",
"hgvs_p": "p.Asn81His",
"transcript": "XM_047447391.1",
"protein_id": "XP_047303347.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 591,
"cds_start": 241,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 3449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.241A>C",
"hgvs_p": "p.Asn81His",
"transcript": "XM_047447394.1",
"protein_id": "XP_047303350.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 591,
"cds_start": 241,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 3300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.157A>C",
"hgvs_p": "p.Asn53His",
"transcript": "XM_047447395.1",
"protein_id": "XP_047303351.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 563,
"cds_start": 157,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "c.106A>C",
"hgvs_p": "p.Asn36His",
"transcript": "XM_017005670.3",
"protein_id": "XP_016861159.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 551,
"cds_start": 106,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 5120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OSBPL10",
"gene_hgnc_id": 16395,
"hgvs_c": "n.172A>C",
"hgvs_p": null,
"transcript": "ENST00000467647.1",
"protein_id": null,
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{
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],
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"allele_count_reference_population": 0,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"BP4"
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"verdict": "Uncertain_significance",
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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": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}