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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: 10-119842575-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=119842575&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 119842575,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024834.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Glu341Lys",
"transcript": "NM_001256378.2",
"protein_id": "NP_001243307.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 640,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 4216,
"mane_select": "ENST00000369077.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256378.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Glu341Lys",
"transcript": "ENST00000369077.4",
"protein_id": "ENSP00000358073.3",
"transcript_support_level": 1,
"aa_start": 341,
"aa_end": null,
"aa_length": 640,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 4216,
"mane_select": "NM_001256378.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369077.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Glu343Lys",
"transcript": "NM_024834.4",
"protein_id": "NP_079110.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 642,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 4222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024834.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Glu343Lys",
"transcript": "ENST00000360003.7",
"protein_id": "ENSP00000353098.3",
"transcript_support_level": 2,
"aa_start": 343,
"aa_end": null,
"aa_length": 642,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360003.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Glu343Lys",
"transcript": "ENST00000966480.1",
"protein_id": "ENSP00000636539.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 642,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966480.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1012G>A",
"hgvs_p": "p.Glu338Lys",
"transcript": "ENST00000937934.1",
"protein_id": "ENSP00000607993.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 637,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 3719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937934.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Glu336Lys",
"transcript": "ENST00000895505.1",
"protein_id": "ENSP00000565564.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 635,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895505.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.985G>A",
"hgvs_p": "p.Glu329Lys",
"transcript": "ENST00000895504.1",
"protein_id": "ENSP00000565563.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 628,
"cds_start": 985,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895504.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Glu327Lys",
"transcript": "ENST00000895501.1",
"protein_id": "ENSP00000565560.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 626,
"cds_start": 979,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 3864,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895501.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Glu316Lys",
"transcript": "ENST00000895503.1",
"protein_id": "ENSP00000565562.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 615,
"cds_start": 946,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895503.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Glu341Lys",
"transcript": "ENST00000966479.1",
"protein_id": "ENSP00000636538.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 611,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 3923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966479.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Glu302Lys",
"transcript": "ENST00000895499.1",
"protein_id": "ENSP00000565558.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 601,
"cds_start": 904,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 3796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895499.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Glu300Lys",
"transcript": "ENST00000895502.1",
"protein_id": "ENSP00000565561.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 599,
"cds_start": 898,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895502.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Glu343Lys",
"transcript": "ENST00000895500.1",
"protein_id": "ENSP00000565559.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 587,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 3751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895500.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Glu341Lys",
"transcript": "ENST00000895498.1",
"protein_id": "ENSP00000565557.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 585,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 4496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895498.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"transcript": "NM_001256379.2",
"protein_id": "NP_001243308.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 467,
"cds_start": 502,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 4019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256379.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Glu343Lys",
"transcript": "XM_005270157.5",
"protein_id": "XP_005270214.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 587,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 4057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270157.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Glu341Lys",
"transcript": "XM_017016663.2",
"protein_id": "XP_016872152.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 585,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016663.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.817G>A",
"hgvs_p": "p.Glu273Lys",
"transcript": "XM_011540170.2",
"protein_id": "XP_011538472.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 572,
"cds_start": 817,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 4056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540170.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "n.1123G>A",
"hgvs_p": null,
"transcript": "ENST00000466047.5",
"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": 2298,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000466047.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "n.*207G>A",
"hgvs_p": null,
"transcript": "ENST00000495407.1",
"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": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000495407.1"
}
],
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"dbsnp": "rs1429316318",
"frequency_reference_population": 0.0000043394707,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.0000041067,
"gnomad_genomes_af": 0.00000657583,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.651517391204834,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.292,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4756,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.429,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.11,
"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_024834.4",
"gene_symbol": "MCMBP",
"hgnc_id": 25782,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Glu343Lys"
}
],
"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
}