← Back to variant description
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: 15-40206324-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40206324&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 40206324,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001211.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.1875A>G",
"hgvs_p": "p.Ile625Met",
"transcript": "NM_001211.6",
"protein_id": "NP_001202.5",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 1050,
"cds_start": 1875,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000287598.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001211.6"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.1875A>G",
"hgvs_p": "p.Ile625Met",
"transcript": "ENST00000287598.11",
"protein_id": "ENSP00000287598.7",
"transcript_support_level": 1,
"aa_start": 625,
"aa_end": null,
"aa_length": 1050,
"cds_start": 1875,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001211.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287598.11"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.1917A>G",
"hgvs_p": "p.Ile639Met",
"transcript": "ENST00000412359.7",
"protein_id": "ENSP00000398470.3",
"transcript_support_level": 2,
"aa_start": 639,
"aa_end": null,
"aa_length": 1064,
"cds_start": 1917,
"cds_end": null,
"cds_length": 3195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412359.7"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.1977A>G",
"hgvs_p": "p.Ile659Met",
"transcript": "ENST00000918306.1",
"protein_id": "ENSP00000588365.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 1084,
"cds_start": 1977,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918306.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.1893A>G",
"hgvs_p": "p.Ile631Met",
"transcript": "ENST00000918309.1",
"protein_id": "ENSP00000588368.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 1056,
"cds_start": 1893,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918309.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.1890A>G",
"hgvs_p": "p.Ile630Met",
"transcript": "ENST00000897791.1",
"protein_id": "ENSP00000567850.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 1055,
"cds_start": 1890,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897791.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.1830A>G",
"hgvs_p": "p.Ile610Met",
"transcript": "ENST00000897792.1",
"protein_id": "ENSP00000567851.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 1035,
"cds_start": 1830,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897792.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.1815A>G",
"hgvs_p": "p.Ile605Met",
"transcript": "ENST00000918305.1",
"protein_id": "ENSP00000588364.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 1030,
"cds_start": 1815,
"cds_end": null,
"cds_length": 3093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918305.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.1473A>G",
"hgvs_p": "p.Ile491Met",
"transcript": "ENST00000918310.1",
"protein_id": "ENSP00000588369.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 916,
"cds_start": 1473,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918310.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.1398A>G",
"hgvs_p": "p.Ile466Met",
"transcript": "ENST00000918308.1",
"protein_id": "ENSP00000588367.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 891,
"cds_start": 1398,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918308.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "c.1329A>G",
"hgvs_p": "p.Ile443Met",
"transcript": "ENST00000918307.1",
"protein_id": "ENSP00000588366.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 868,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918307.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC107984763",
"gene_hgnc_id": null,
"hgvs_c": "n.218-26123T>C",
"hgvs_p": null,
"transcript": "XR_001751506.2",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_001751506.2"
},
{
"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": "BUB1B",
"gene_hgnc_id": 1149,
"hgvs_c": "n.*50A>G",
"hgvs_p": null,
"transcript": "ENST00000558972.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000558972.1"
}
],
"gene_symbol": "BUB1B",
"gene_hgnc_id": 1149,
"dbsnp": "rs541881263",
"frequency_reference_population": 0.000035311827,
"hom_count_reference_population": 0,
"allele_count_reference_population": 57,
"gnomad_exomes_af": 0.0000355707,
"gnomad_genomes_af": 0.0000328269,
"gnomad_exomes_ac": 52,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01318630576133728,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.0696,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.119,
"phylop100way_prediction": "Benign",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BS1_Supporting",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_001211.6",
"gene_symbol": "BUB1B",
"hgnc_id": 1149,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1875A>G",
"hgvs_p": "p.Ile625Met"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_001751506.2",
"gene_symbol": "LOC107984763",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.218-26123T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Colorectal cancer,Mosaic variegated aneuploidy syndrome 1,Premature chromatid separation trait",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Mosaic variegated aneuploidy syndrome 1|Mosaic variegated aneuploidy syndrome 1;Premature chromatid separation trait;Colorectal cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}