← Back to variant description
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: 11-67991572-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67991572&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "UNC93B1",
"hgnc_id": 13481,
"hgvs_c": "c.1768G>A",
"hgvs_p": "p.Gly590Arg",
"inheritance_mode": "SD,AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_030930.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_score": -12,
"allele_count_reference_population": 344,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.3375,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " 1, susceptibility to,Herpes simplex encephalitis",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.013512253761291504,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 597,
"aa_ref": "G",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2294,
"cdna_start": 1822,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1768,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_030930.4",
"gene_hgnc_id": 13481,
"gene_symbol": "UNC93B1",
"hgvs_c": "c.1768G>A",
"hgvs_p": "p.Gly590Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000227471.7",
"protein_coding": true,
"protein_id": "NP_112192.2",
"strand": false,
"transcript": "NM_030930.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 597,
"aa_ref": "G",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2294,
"cdna_start": 1822,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1768,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000227471.7",
"gene_hgnc_id": 13481,
"gene_symbol": "UNC93B1",
"hgvs_c": "c.1768G>A",
"hgvs_p": "p.Gly590Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030930.4",
"protein_coding": true,
"protein_id": "ENSP00000227471.3",
"strand": false,
"transcript": "ENST00000227471.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 610,
"aa_ref": "G",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2331,
"cdna_start": 1861,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000864508.1",
"gene_hgnc_id": 13481,
"gene_symbol": "UNC93B1",
"hgvs_c": "c.1807G>A",
"hgvs_p": "p.Gly603Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534567.1",
"strand": false,
"transcript": "ENST00000864508.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 605,
"aa_ref": "G",
"aa_start": 598,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2270,
"cdna_start": 1802,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1792,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000864509.1",
"gene_hgnc_id": 13481,
"gene_symbol": "UNC93B1",
"hgvs_c": "c.1792G>A",
"hgvs_p": "p.Gly598Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534568.1",
"strand": false,
"transcript": "ENST00000864509.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 595,
"aa_ref": "G",
"aa_start": 588,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2300,
"cdna_start": 1833,
"cds_end": null,
"cds_length": 1788,
"cds_start": 1762,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000864507.1",
"gene_hgnc_id": 13481,
"gene_symbol": "UNC93B1",
"hgvs_c": "c.1762G>A",
"hgvs_p": "p.Gly588Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534566.1",
"strand": false,
"transcript": "ENST00000864507.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 546,
"aa_ref": "G",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": 1690,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1615,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000864506.1",
"gene_hgnc_id": 13481,
"gene_symbol": "UNC93B1",
"hgvs_c": "c.1615G>A",
"hgvs_p": "p.Gly539Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534565.1",
"strand": false,
"transcript": "ENST00000864506.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 543,
"aa_ref": "G",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 1686,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1606,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000959345.1",
"gene_hgnc_id": 13481,
"gene_symbol": "UNC93B1",
"hgvs_c": "c.1606G>A",
"hgvs_p": "p.Gly536Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629404.1",
"strand": false,
"transcript": "ENST00000959345.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 524,
"aa_ref": "G",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2065,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 1575,
"cds_start": 1549,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000930952.1",
"gene_hgnc_id": 13481,
"gene_symbol": "UNC93B1",
"hgvs_c": "c.1549G>A",
"hgvs_p": "p.Gly517Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601011.1",
"strand": false,
"transcript": "ENST00000930952.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 460,
"aa_ref": "G",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1932,
"cdna_start": 1460,
"cds_end": null,
"cds_length": 1383,
"cds_start": 1357,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011545290.1",
"gene_hgnc_id": 13481,
"gene_symbol": "UNC93B1",
"hgvs_c": "c.1357G>A",
"hgvs_p": "p.Gly453Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543592.1",
"strand": false,
"transcript": "XM_011545290.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 412,
"aa_ref": "G",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 1358,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011545291.3",
"gene_hgnc_id": 13481,
"gene_symbol": "UNC93B1",
"hgvs_c": "c.1213G>A",
"hgvs_p": "p.Gly405Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543593.1",
"strand": false,
"transcript": "XM_011545291.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 529,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000525368.1",
"gene_hgnc_id": 13481,
"gene_symbol": "UNC93B1",
"hgvs_c": "n.*246G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000525368.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2375182",
"effect": "missense_variant",
"frequency_reference_population": 0.00023104336,
"gene_hgnc_id": 13481,
"gene_symbol": "UNC93B1",
"gnomad_exomes_ac": 317,
"gnomad_exomes_af": 0.000237126,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_ac": 27,
"gnomad_genomes_af": 0.000177566,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 3,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Herpes simplex encephalitis, susceptibility to, 1",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.383,
"pos": 67991572,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.11,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_030930.4"
}
]
}