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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: 10-119831592-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=119831592&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 119831592,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024834.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1805C>G",
"hgvs_p": "p.Ser602Cys",
"transcript": "NM_001256378.2",
"protein_id": "NP_001243307.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 640,
"cds_start": 1805,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369077.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256378.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1805C>G",
"hgvs_p": "p.Ser602Cys",
"transcript": "ENST00000369077.4",
"protein_id": "ENSP00000358073.3",
"transcript_support_level": 1,
"aa_start": 602,
"aa_end": null,
"aa_length": 640,
"cds_start": 1805,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001256378.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369077.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1811C>G",
"hgvs_p": "p.Ser604Cys",
"transcript": "NM_024834.4",
"protein_id": "NP_079110.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 642,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024834.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1811C>G",
"hgvs_p": "p.Ser604Cys",
"transcript": "ENST00000360003.7",
"protein_id": "ENSP00000353098.3",
"transcript_support_level": 2,
"aa_start": 604,
"aa_end": null,
"aa_length": 642,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360003.7"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1811C>G",
"hgvs_p": "p.Ser604Cys",
"transcript": "ENST00000966480.1",
"protein_id": "ENSP00000636539.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 642,
"cds_start": 1811,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966480.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1796C>G",
"hgvs_p": "p.Ser599Cys",
"transcript": "ENST00000937934.1",
"protein_id": "ENSP00000607993.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 637,
"cds_start": 1796,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937934.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1790C>G",
"hgvs_p": "p.Ser597Cys",
"transcript": "ENST00000895505.1",
"protein_id": "ENSP00000565564.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 635,
"cds_start": 1790,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895505.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1769C>G",
"hgvs_p": "p.Ser590Cys",
"transcript": "ENST00000895504.1",
"protein_id": "ENSP00000565563.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 628,
"cds_start": 1769,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895504.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1763C>G",
"hgvs_p": "p.Ser588Cys",
"transcript": "ENST00000895501.1",
"protein_id": "ENSP00000565560.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 626,
"cds_start": 1763,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895501.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1730C>G",
"hgvs_p": "p.Ser577Cys",
"transcript": "ENST00000895503.1",
"protein_id": "ENSP00000565562.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 615,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895503.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1718C>G",
"hgvs_p": "p.Ser573Cys",
"transcript": "ENST00000966479.1",
"protein_id": "ENSP00000636538.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 611,
"cds_start": 1718,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966479.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1688C>G",
"hgvs_p": "p.Ser563Cys",
"transcript": "ENST00000895499.1",
"protein_id": "ENSP00000565558.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 601,
"cds_start": 1688,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895499.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1682C>G",
"hgvs_p": "p.Ser561Cys",
"transcript": "ENST00000895502.1",
"protein_id": "ENSP00000565561.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 599,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895502.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1646C>G",
"hgvs_p": "p.Ser549Cys",
"transcript": "ENST00000895500.1",
"protein_id": "ENSP00000565559.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 587,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895500.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1640C>G",
"hgvs_p": "p.Ser547Cys",
"transcript": "ENST00000895498.1",
"protein_id": "ENSP00000565557.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 585,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895498.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1286C>G",
"hgvs_p": "p.Ser429Cys",
"transcript": "NM_001256379.2",
"protein_id": "NP_001243308.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 467,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256379.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1646C>G",
"hgvs_p": "p.Ser549Cys",
"transcript": "XM_005270157.5",
"protein_id": "XP_005270214.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 587,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270157.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1640C>G",
"hgvs_p": "p.Ser547Cys",
"transcript": "XM_017016663.2",
"protein_id": "XP_016872152.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 585,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016663.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "c.1601C>G",
"hgvs_p": "p.Ser534Cys",
"transcript": "XM_011540170.2",
"protein_id": "XP_011538472.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 572,
"cds_start": 1601,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"hgvs_c": "n.1907C>G",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000466047.5"
}
],
"gene_symbol": "MCMBP",
"gene_hgnc_id": 25782,
"dbsnp": "rs35371199",
"frequency_reference_population": 0.00003471499,
"hom_count_reference_population": 0,
"allele_count_reference_population": 56,
"gnomad_exomes_af": 0.0000376476,
"gnomad_genomes_af": 0.00000656944,
"gnomad_exomes_ac": 55,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4463133215904236,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.276,
"revel_prediction": "Benign",
"alphamissense_score": 0.1669,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.761,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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.1811C>G",
"hgvs_p": "p.Ser604Cys"
}
],
"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
}