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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: 16-90006459-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=90006459&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 90006459,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024043.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNDD1",
"gene_hgnc_id": 28455,
"hgvs_c": "c.353G>A",
"hgvs_p": "p.Arg118His",
"transcript": "NM_001042610.3",
"protein_id": "NP_001036075.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 158,
"cds_start": 353,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000002501.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042610.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNDD1",
"gene_hgnc_id": 28455,
"hgvs_c": "c.353G>A",
"hgvs_p": "p.Arg118His",
"transcript": "ENST00000002501.11",
"protein_id": "ENSP00000002501.6",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 158,
"cds_start": 353,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001042610.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000002501.11"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNDD1",
"gene_hgnc_id": 28455,
"hgvs_c": "c.413G>A",
"hgvs_p": "p.Arg138His",
"transcript": "ENST00000304733.8",
"protein_id": "ENSP00000306407.3",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 178,
"cds_start": 413,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000304733.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNDD1",
"gene_hgnc_id": 28455,
"hgvs_c": "c.413G>A",
"hgvs_p": "p.Arg138His",
"transcript": "NM_024043.4",
"protein_id": "NP_076948.2",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 178,
"cds_start": 413,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024043.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNDD1",
"gene_hgnc_id": 28455,
"hgvs_c": "c.395G>A",
"hgvs_p": "p.Arg132His",
"transcript": "ENST00000930202.1",
"protein_id": "ENSP00000600261.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 172,
"cds_start": 395,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930202.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNDD1",
"gene_hgnc_id": 28455,
"hgvs_c": "c.386G>A",
"hgvs_p": "p.Arg129His",
"transcript": "ENST00000930203.1",
"protein_id": "ENSP00000600262.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 169,
"cds_start": 386,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930203.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNDD1",
"gene_hgnc_id": 28455,
"hgvs_c": "c.371G>A",
"hgvs_p": "p.Arg124His",
"transcript": "ENST00000392973.8",
"protein_id": "ENSP00000376699.3",
"transcript_support_level": 2,
"aa_start": 124,
"aa_end": null,
"aa_length": 164,
"cds_start": 371,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392973.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNDD1",
"gene_hgnc_id": 28455,
"hgvs_c": "c.353G>A",
"hgvs_p": "p.Arg118His",
"transcript": "NM_001288708.2",
"protein_id": "NP_001275637.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 158,
"cds_start": 353,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288708.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNDD1",
"gene_hgnc_id": 28455,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Arg36His",
"transcript": "NM_001288709.2",
"protein_id": "NP_001275638.2",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 76,
"cds_start": 107,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288709.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNDD1",
"gene_hgnc_id": 28455,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Arg36His",
"transcript": "NM_001371581.1",
"protein_id": "NP_001358510.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 76,
"cds_start": 107,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371581.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNDD1",
"gene_hgnc_id": 28455,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Arg36His",
"transcript": "ENST00000568662.2",
"protein_id": "ENSP00000501273.1",
"transcript_support_level": 2,
"aa_start": 36,
"aa_end": null,
"aa_length": 76,
"cds_start": 107,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568662.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNDD1",
"gene_hgnc_id": 28455,
"hgvs_c": "c.107G>A",
"hgvs_p": "p.Arg36His",
"transcript": "ENST00000568838.2",
"protein_id": "ENSP00000457625.2",
"transcript_support_level": 2,
"aa_start": 36,
"aa_end": null,
"aa_length": 76,
"cds_start": 107,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568838.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DBNDD1",
"gene_hgnc_id": 28455,
"hgvs_c": "n.1303G>A",
"hgvs_p": null,
"transcript": "ENST00000623401.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "TEC",
"feature": "ENST00000623401.1"
},
{
"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": "DBNDD1",
"gene_hgnc_id": 28455,
"hgvs_c": "n.*349G>A",
"hgvs_p": null,
"transcript": "ENST00000568330.2",
"protein_id": "ENSP00000456573.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000568330.2"
}
],
"gene_symbol": "DBNDD1",
"gene_hgnc_id": 28455,
"dbsnp": "rs756020340",
"frequency_reference_population": 0.000015624042,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000158853,
"gnomad_genomes_af": 0.0000131387,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3943610191345215,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.336,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1088,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.794,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_024043.4",
"gene_symbol": "DBNDD1",
"hgnc_id": 28455,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.413G>A",
"hgvs_p": "p.Arg138His"
}
],
"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
}