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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: 2-110638152-GA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=110638152&ref=GA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 110638152,
"ref": "GA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000302759.11",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.3069delT",
"hgvs_p": "p.His1024fs",
"transcript": "NM_004336.5",
"protein_id": "NP_004327.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1085,
"cds_start": 3069,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 3137,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": "ENST00000302759.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.3069delT",
"hgvs_p": "p.His1024fs",
"transcript": "ENST00000302759.11",
"protein_id": "ENSP00000302530.6",
"transcript_support_level": 1,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1085,
"cds_start": 3069,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 3137,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": "NM_004336.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.2898delT",
"hgvs_p": "p.His967fs",
"transcript": "ENST00000409311.5",
"protein_id": "ENSP00000386701.1",
"transcript_support_level": 1,
"aa_start": 966,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2898,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2966,
"cdna_end": null,
"cdna_length": 3287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.3009delT",
"hgvs_p": "p.His1004fs",
"transcript": "NM_001278616.2",
"protein_id": "NP_001265545.1",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1065,
"cds_start": 3009,
"cds_end": null,
"cds_length": 3198,
"cdna_start": 3077,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.3009delT",
"hgvs_p": "p.His1004fs",
"transcript": "ENST00000535254.6",
"protein_id": "ENSP00000441013.1",
"transcript_support_level": 2,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1065,
"cds_start": 3009,
"cds_end": null,
"cds_length": 3198,
"cdna_start": 3077,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "c.2898delT",
"hgvs_p": "p.His967fs",
"transcript": "NM_001278617.2",
"protein_id": "NP_001265546.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2898,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2966,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "n.1064delT",
"hgvs_p": null,
"transcript": "ENST00000478175.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "n.*557delT",
"hgvs_p": null,
"transcript": "ENST00000671097.1",
"protein_id": "ENSP00000499328.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"hgvs_c": "n.*557delT",
"hgvs_p": null,
"transcript": "ENST00000671097.1",
"protein_id": "ENSP00000499328.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289202",
"gene_hgnc_id": null,
"hgvs_c": "n.163+30709delA",
"hgvs_p": null,
"transcript": "ENST00000722176.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BUB1",
"gene_hgnc_id": 1148,
"dbsnp": "rs587776642",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.212,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000302759.11",
"gene_symbol": "BUB1",
"hgnc_id": 1148,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.3069delT",
"hgvs_p": "p.His1024fs"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000722176.1",
"gene_symbol": "ENSG00000289202",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.163+30709delA",
"hgvs_p": null
}
],
"clinvar_disease": "Carcinoma of colon",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Carcinoma of colon",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}