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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: 15-40213368-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40213368&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BUB1B",
"hgnc_id": 1149,
"hgvs_c": "c.2572A>G",
"hgvs_p": "p.Ile858Val",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_001211.6",
"verdict": "Benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC107984763",
"hgnc_id": null,
"hgvs_c": "n.217+26117T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "XR_001751506.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1",
"acmg_score": -8,
"allele_count_reference_population": 19,
"alphamissense_prediction": null,
"alphamissense_score": 0.0876,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Mosaic variegated aneuploidy syndrome 1",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.06447669863700867,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1050,
"aa_ref": "I",
"aa_start": 858,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3669,
"cdna_start": 2724,
"cds_end": null,
"cds_length": 3153,
"cds_start": 2572,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001211.6",
"gene_hgnc_id": 1149,
"gene_symbol": "BUB1B",
"hgvs_c": "c.2572A>G",
"hgvs_p": "p.Ile858Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000287598.11",
"protein_coding": true,
"protein_id": "NP_001202.5",
"strand": true,
"transcript": "NM_001211.6",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1050,
"aa_ref": "I",
"aa_start": 858,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3669,
"cdna_start": 2724,
"cds_end": null,
"cds_length": 3153,
"cds_start": 2572,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000287598.11",
"gene_hgnc_id": 1149,
"gene_symbol": "BUB1B",
"hgvs_c": "c.2572A>G",
"hgvs_p": "p.Ile858Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001211.6",
"protein_coding": true,
"protein_id": "ENSP00000287598.7",
"strand": true,
"transcript": "ENST00000287598.11",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1064,
"aa_ref": "I",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3628,
"cdna_start": 2768,
"cds_end": null,
"cds_length": 3195,
"cds_start": 2614,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000412359.7",
"gene_hgnc_id": 1149,
"gene_symbol": "BUB1B",
"hgvs_c": "c.2614A>G",
"hgvs_p": "p.Ile872Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398470.3",
"strand": true,
"transcript": "ENST00000412359.7",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1084,
"aa_ref": "I",
"aa_start": 892,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3781,
"cdna_start": 2836,
"cds_end": null,
"cds_length": 3255,
"cds_start": 2674,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000918306.1",
"gene_hgnc_id": 1149,
"gene_symbol": "BUB1B",
"hgvs_c": "c.2674A>G",
"hgvs_p": "p.Ile892Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588365.1",
"strand": true,
"transcript": "ENST00000918306.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1056,
"aa_ref": "I",
"aa_start": 864,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3683,
"cdna_start": 2738,
"cds_end": null,
"cds_length": 3171,
"cds_start": 2590,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000918309.1",
"gene_hgnc_id": 1149,
"gene_symbol": "BUB1B",
"hgvs_c": "c.2590A>G",
"hgvs_p": "p.Ile864Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588368.1",
"strand": true,
"transcript": "ENST00000918309.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1055,
"aa_ref": "I",
"aa_start": 863,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3740,
"cdna_start": 2782,
"cds_end": null,
"cds_length": 3168,
"cds_start": 2587,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000897791.1",
"gene_hgnc_id": 1149,
"gene_symbol": "BUB1B",
"hgvs_c": "c.2587A>G",
"hgvs_p": "p.Ile863Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567850.1",
"strand": true,
"transcript": "ENST00000897791.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "I",
"aa_start": 843,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 2725,
"cds_end": null,
"cds_length": 3108,
"cds_start": 2527,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000897792.1",
"gene_hgnc_id": 1149,
"gene_symbol": "BUB1B",
"hgvs_c": "c.2527A>G",
"hgvs_p": "p.Ile843Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567851.1",
"strand": true,
"transcript": "ENST00000897792.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1030,
"aa_ref": "I",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3652,
"cdna_start": 2707,
"cds_end": null,
"cds_length": 3093,
"cds_start": 2512,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000918305.1",
"gene_hgnc_id": 1149,
"gene_symbol": "BUB1B",
"hgvs_c": "c.2512A>G",
"hgvs_p": "p.Ile838Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588364.1",
"strand": true,
"transcript": "ENST00000918305.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 916,
"aa_ref": "I",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3244,
"cdna_start": 2304,
"cds_end": null,
"cds_length": 2751,
"cds_start": 2170,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000918310.1",
"gene_hgnc_id": 1149,
"gene_symbol": "BUB1B",
"hgvs_c": "c.2170A>G",
"hgvs_p": "p.Ile724Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588369.1",
"strand": true,
"transcript": "ENST00000918310.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 891,
"aa_ref": "I",
"aa_start": 699,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3189,
"cdna_start": 2244,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2095,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000918308.1",
"gene_hgnc_id": 1149,
"gene_symbol": "BUB1B",
"hgvs_c": "c.2095A>G",
"hgvs_p": "p.Ile699Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588367.1",
"strand": true,
"transcript": "ENST00000918308.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 868,
"aa_ref": "I",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": 2188,
"cds_end": null,
"cds_length": 2607,
"cds_start": 2026,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000918307.1",
"gene_hgnc_id": 1149,
"gene_symbol": "BUB1B",
"hgvs_c": "c.2026A>G",
"hgvs_p": "p.Ile676Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588366.1",
"strand": true,
"transcript": "ENST00000918307.1",
"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": 2984,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_001751506.2",
"gene_hgnc_id": null,
"gene_symbol": "LOC107984763",
"hgvs_c": "n.217+26117T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_001751506.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs867416581",
"effect": "missense_variant",
"frequency_reference_population": 0.000011773308,
"gene_hgnc_id": 1149,
"gene_symbol": "BUB1B",
"gnomad_exomes_ac": 16,
"gnomad_exomes_af": 0.0000109469,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197088,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Mosaic variegated aneuploidy syndrome 1",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.357,
"pos": 40213368,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.033,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001211.6"
}
]
}