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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: 10-119842480-GAT-TAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=119842480&ref=GAT&alt=TAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MCMBP",
"hgnc_id": 25782,
"hgvs_c": "c.1120_1122delATCinsTTA",
"hgvs_p": "p.Ile374Leu",
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_024834.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 640,
"aa_ref": "I",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4216,
"cdna_start": 1375,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256378.2",
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"hgvs_c": "c.1114_1116delATCinsTTA",
"hgvs_p": "p.Ile372Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369077.4",
"protein_coding": true,
"protein_id": "NP_001243307.1",
"strand": false,
"transcript": "NM_001256378.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 640,
"aa_ref": "I",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4216,
"cdna_start": 1375,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369077.4",
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"hgvs_c": "c.1114_1116delATCinsTTA",
"hgvs_p": "p.Ile372Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001256378.2",
"protein_coding": true,
"protein_id": "ENSP00000358073.3",
"strand": false,
"transcript": "ENST00000369077.4",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 642,
"aa_ref": "I",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4222,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 1929,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_024834.4",
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"hgvs_c": "c.1120_1122delATCinsTTA",
"hgvs_p": "p.Ile374Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_079110.1",
"strand": false,
"transcript": "NM_024834.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 642,
"aa_ref": "I",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4169,
"cdna_start": 1292,
"cds_end": null,
"cds_length": 1929,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000360003.7",
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"hgvs_c": "c.1120_1122delATCinsTTA",
"hgvs_p": "p.Ile374Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353098.3",
"strand": false,
"transcript": "ENST00000360003.7",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 642,
"aa_ref": "I",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3751,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 1929,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000966480.1",
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"hgvs_c": "c.1120_1122delATCinsTTA",
"hgvs_p": "p.Ile374Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636539.1",
"strand": false,
"transcript": "ENST00000966480.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 637,
"aa_ref": "I",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3719,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 1914,
"cds_start": 1105,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937934.1",
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"hgvs_c": "c.1105_1107delATCinsTTA",
"hgvs_p": "p.Ile369Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607993.1",
"strand": false,
"transcript": "ENST00000937934.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 635,
"aa_ref": "I",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2457,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1099,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895505.1",
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"hgvs_c": "c.1099_1101delATCinsTTA",
"hgvs_p": "p.Ile367Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565564.1",
"strand": false,
"transcript": "ENST00000895505.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 628,
"aa_ref": "I",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2742,
"cdna_start": 1336,
"cds_end": null,
"cds_length": 1887,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895504.1",
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"hgvs_c": "c.1078_1080delATCinsTTA",
"hgvs_p": "p.Ile360Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565563.1",
"strand": false,
"transcript": "ENST00000895504.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 626,
"aa_ref": "I",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3864,
"cdna_start": 1373,
"cds_end": null,
"cds_length": 1881,
"cds_start": 1072,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895501.1",
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"hgvs_c": "c.1072_1074delATCinsTTA",
"hgvs_p": "p.Ile358Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565560.1",
"strand": false,
"transcript": "ENST00000895501.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 615,
"aa_ref": "I",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3789,
"cdna_start": 1300,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1039,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895503.1",
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"hgvs_c": "c.1039_1041delATCinsTTA",
"hgvs_p": "p.Ile347Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565562.1",
"strand": false,
"transcript": "ENST00000895503.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 611,
"aa_ref": "I",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3923,
"cdna_start": 1519,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000966479.1",
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"hgvs_c": "c.1114_1116delATCinsTTA",
"hgvs_p": "p.Ile372Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636538.1",
"strand": false,
"transcript": "ENST00000966479.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 601,
"aa_ref": "I",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3796,
"cdna_start": 1313,
"cds_end": null,
"cds_length": 1806,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895499.1",
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"hgvs_c": "c.997_999delATCinsTTA",
"hgvs_p": "p.Ile333Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565558.1",
"strand": false,
"transcript": "ENST00000895499.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 599,
"aa_ref": "I",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3751,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1800,
"cds_start": 991,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895502.1",
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"hgvs_c": "c.991_993delATCinsTTA",
"hgvs_p": "p.Ile331Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565561.1",
"strand": false,
"transcript": "ENST00000895502.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 587,
"aa_ref": "I",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3751,
"cdna_start": 1427,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895500.1",
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"hgvs_c": "c.1120_1122delATCinsTTA",
"hgvs_p": "p.Ile374Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565559.1",
"strand": false,
"transcript": "ENST00000895500.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 585,
"aa_ref": "I",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4496,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 1758,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895498.1",
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"hgvs_c": "c.1114_1116delATCinsTTA",
"hgvs_p": "p.Ile372Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565557.1",
"strand": false,
"transcript": "ENST00000895498.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 467,
"aa_ref": "I",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4019,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1404,
"cds_start": 595,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001256379.2",
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"hgvs_c": "c.595_597delATCinsTTA",
"hgvs_p": "p.Ile199Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243308.1",
"strand": false,
"transcript": "NM_001256379.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 587,
"aa_ref": "I",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4057,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1120,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005270157.5",
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"hgvs_c": "c.1120_1122delATCinsTTA",
"hgvs_p": "p.Ile374Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005270214.1",
"strand": false,
"transcript": "XM_005270157.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 585,
"aa_ref": "I",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4051,
"cdna_start": 1375,
"cds_end": null,
"cds_length": 1758,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017016663.2",
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"hgvs_c": "c.1114_1116delATCinsTTA",
"hgvs_p": "p.Ile372Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872152.1",
"strand": false,
"transcript": "XM_017016663.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 572,
"aa_ref": "I",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4056,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1719,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011540170.2",
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"hgvs_c": "c.910_912delATCinsTTA",
"hgvs_p": "p.Ile304Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011538472.1",
"strand": false,
"transcript": "XM_011540170.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2298,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000466047.5",
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"hgvs_c": "n.1216_1218delATCinsTTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000466047.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 25782,
"gene_symbol": "MCMBP",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
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"transcript": "NM_024834.4"
}
]
}