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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: 15-55430733-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=55430733&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 55430733,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_130810.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF4",
"gene_hgnc_id": 21493,
"hgvs_c": "c.1200A>T",
"hgvs_p": "p.Lys400Asn",
"transcript": "NM_130810.4",
"protein_id": "NP_570722.2",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 420,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": "ENST00000321149.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF4",
"gene_hgnc_id": 21493,
"hgvs_c": "c.1200A>T",
"hgvs_p": "p.Lys400Asn",
"transcript": "ENST00000321149.7",
"protein_id": "ENSP00000323275.3",
"transcript_support_level": 1,
"aa_start": 400,
"aa_end": null,
"aa_length": 420,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": "NM_130810.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF4",
"gene_hgnc_id": 21493,
"hgvs_c": "c.1094A>T",
"hgvs_p": "p.Lys365Ile",
"transcript": "ENST00000457155.6",
"protein_id": "ENSP00000402640.2",
"transcript_support_level": 1,
"aa_start": 365,
"aa_end": null,
"aa_length": 376,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 1567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DNAAF4",
"gene_hgnc_id": 21493,
"hgvs_c": "c.1047+4172A>T",
"hgvs_p": null,
"transcript": "ENST00000448430.6",
"protein_id": "ENSP00000403412.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": -4,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF4",
"gene_hgnc_id": 21493,
"hgvs_c": "c.1200A>T",
"hgvs_p": "p.Lys400Asn",
"transcript": "ENST00000348518.4",
"protein_id": "ENSP00000299561.5",
"transcript_support_level": 5,
"aa_start": 400,
"aa_end": null,
"aa_length": 420,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 1897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF4",
"gene_hgnc_id": 21493,
"hgvs_c": "c.1094A>T",
"hgvs_p": "p.Lys365Ile",
"transcript": "NM_001033559.3",
"protein_id": "NP_001028731.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 376,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DNAAF4",
"gene_hgnc_id": 21493,
"hgvs_c": "c.1047+4172A>T",
"hgvs_p": null,
"transcript": "NM_001033560.2",
"protein_id": "NP_001028732.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": -4,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DNAAF4",
"gene_hgnc_id": 21493,
"hgvs_c": "n.*480+1764A>T",
"hgvs_p": null,
"transcript": "ENST00000524160.5",
"protein_id": "ENSP00000428097.1",
"transcript_support_level": 2,
"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": 1299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DNAAF4-CCPG1",
"gene_hgnc_id": 43019,
"hgvs_c": "n.1184+1764A>T",
"hgvs_p": null,
"transcript": "ENST00000565113.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DNAAF4-CCPG1",
"gene_hgnc_id": 43019,
"hgvs_c": "n.905+8739A>T",
"hgvs_p": null,
"transcript": "ENST00000568310.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DNAAF4-CCPG1",
"gene_hgnc_id": 43019,
"hgvs_c": "n.1408+1764A>T",
"hgvs_p": null,
"transcript": "NR_037923.1",
"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": 4838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAAF4",
"gene_hgnc_id": 21493,
"dbsnp": "rs143213850",
"frequency_reference_population": 0.00003346749,
"hom_count_reference_population": 0,
"allele_count_reference_population": 54,
"gnomad_exomes_af": 0.0000198467,
"gnomad_genomes_af": 0.000164143,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 25,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.021340101957321167,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.157,
"revel_prediction": "Benign",
"alphamissense_score": 0.1186,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.39,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_130810.4",
"gene_symbol": "DNAAF4",
"hgnc_id": 21493,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1200A>T",
"hgvs_p": "p.Lys400Asn"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000565113.5",
"gene_symbol": "DNAAF4-CCPG1",
"hgnc_id": 43019,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1184+1764A>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}