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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: 11-67991616-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67991616&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 67991616,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_030930.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "c.1724C>A",
"hgvs_p": "p.Pro575His",
"transcript": "NM_030930.4",
"protein_id": "NP_112192.2",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 597,
"cds_start": 1724,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000227471.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030930.4"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "c.1724C>A",
"hgvs_p": "p.Pro575His",
"transcript": "ENST00000227471.7",
"protein_id": "ENSP00000227471.3",
"transcript_support_level": 1,
"aa_start": 575,
"aa_end": null,
"aa_length": 597,
"cds_start": 1724,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030930.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000227471.7"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "c.1763C>A",
"hgvs_p": "p.Pro588His",
"transcript": "ENST00000864508.1",
"protein_id": "ENSP00000534567.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 610,
"cds_start": 1763,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864508.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "c.1748C>A",
"hgvs_p": "p.Pro583His",
"transcript": "ENST00000864509.1",
"protein_id": "ENSP00000534568.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 605,
"cds_start": 1748,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864509.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "c.1718C>A",
"hgvs_p": "p.Pro573His",
"transcript": "ENST00000864507.1",
"protein_id": "ENSP00000534566.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 595,
"cds_start": 1718,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864507.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "c.1571C>A",
"hgvs_p": "p.Pro524His",
"transcript": "ENST00000864506.1",
"protein_id": "ENSP00000534565.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 546,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864506.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "c.1562C>A",
"hgvs_p": "p.Pro521His",
"transcript": "ENST00000959345.1",
"protein_id": "ENSP00000629404.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 543,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959345.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "c.1505C>A",
"hgvs_p": "p.Pro502His",
"transcript": "ENST00000930952.1",
"protein_id": "ENSP00000601011.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 524,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930952.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "c.1313C>A",
"hgvs_p": "p.Pro438His",
"transcript": "XM_011545290.1",
"protein_id": "XP_011543592.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 460,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545290.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "c.1169C>A",
"hgvs_p": "p.Pro390His",
"transcript": "XM_011545291.3",
"protein_id": "XP_011543593.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 412,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545291.3"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"hgvs_c": "n.*202C>A",
"hgvs_p": null,
"transcript": "ENST00000525368.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000525368.1"
}
],
"gene_symbol": "UNC93B1",
"gene_hgnc_id": 13481,
"dbsnp": "rs535779712",
"frequency_reference_population": 0.008845313,
"hom_count_reference_population": 74,
"allele_count_reference_population": 13280,
"gnomad_exomes_af": 0.00917697,
"gnomad_genomes_af": 0.00590585,
"gnomad_exomes_ac": 12381,
"gnomad_genomes_ac": 899,
"gnomad_exomes_homalt": 68,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006527304649353027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.022,
"revel_prediction": "Benign",
"alphamissense_score": 0.1241,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.489,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_030930.4",
"gene_symbol": "UNC93B1",
"hgnc_id": 13481,
"effects": [
"missense_variant"
],
"inheritance_mode": "SD,AR",
"hgvs_c": "c.1724C>A",
"hgvs_p": "p.Pro575His"
}
],
"clinvar_disease": " 1, susceptibility to,Herpes simplex encephalitis,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Herpes simplex encephalitis, susceptibility to, 1|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}