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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: 12-14789091-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=14789091&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 14789091,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016312.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP11",
"gene_hgnc_id": 16461,
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Arg451Gln",
"transcript": "NM_016312.3",
"protein_id": "NP_057396.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 641,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261167.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016312.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP11",
"gene_hgnc_id": 16461,
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Arg451Gln",
"transcript": "ENST00000261167.7",
"protein_id": "ENSP00000261167.2",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 641,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016312.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261167.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP11",
"gene_hgnc_id": 16461,
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Arg451Gln",
"transcript": "ENST00000858075.1",
"protein_id": "ENSP00000528134.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 641,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858075.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP11",
"gene_hgnc_id": 16461,
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Arg451Gln",
"transcript": "ENST00000918140.1",
"protein_id": "ENSP00000588199.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 641,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918140.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP11",
"gene_hgnc_id": 16461,
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Arg451Gln",
"transcript": "ENST00000918141.1",
"protein_id": "ENSP00000588200.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 641,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918141.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP11",
"gene_hgnc_id": 16461,
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Arg451Gln",
"transcript": "ENST00000918142.1",
"protein_id": "ENSP00000588201.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 641,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918142.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP11",
"gene_hgnc_id": 16461,
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Arg451Gln",
"transcript": "ENST00000918143.1",
"protein_id": "ENSP00000588202.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 641,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918143.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP11",
"gene_hgnc_id": 16461,
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Arg451Gln",
"transcript": "ENST00000918144.1",
"protein_id": "ENSP00000588203.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 641,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918144.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP11",
"gene_hgnc_id": 16461,
"hgvs_c": "c.1343G>A",
"hgvs_p": "p.Arg448Gln",
"transcript": "ENST00000858079.1",
"protein_id": "ENSP00000528138.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 638,
"cds_start": 1343,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858079.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP11",
"gene_hgnc_id": 16461,
"hgvs_c": "c.1340G>A",
"hgvs_p": "p.Arg447Gln",
"transcript": "ENST00000858078.1",
"protein_id": "ENSP00000528137.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 637,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858078.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP11",
"gene_hgnc_id": 16461,
"hgvs_c": "c.1319G>A",
"hgvs_p": "p.Arg440Gln",
"transcript": "ENST00000858077.1",
"protein_id": "ENSP00000528136.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 630,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858077.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP11",
"gene_hgnc_id": 16461,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Arg428Gln",
"transcript": "ENST00000918145.1",
"protein_id": "ENSP00000588204.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 618,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918145.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP11",
"gene_hgnc_id": 16461,
"hgvs_c": "c.1277G>A",
"hgvs_p": "p.Arg426Gln",
"transcript": "ENST00000918146.1",
"protein_id": "ENSP00000588205.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 616,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918146.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP11",
"gene_hgnc_id": 16461,
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Gln",
"transcript": "ENST00000858076.1",
"protein_id": "ENSP00000528135.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 608,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858076.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GUCY2C-AS1",
"gene_hgnc_id": 56054,
"hgvs_c": "n.574-1358C>T",
"hgvs_p": null,
"transcript": "ENST00000786473.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000786473.1"
}
],
"gene_symbol": "WBP11",
"gene_hgnc_id": 16461,
"dbsnp": "rs199518864",
"frequency_reference_population": 0.0000058290516,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000582905,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5171228647232056,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.41,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4653,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.295,
"phylop100way_prediction": "Uncertain_significance",
"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": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_016312.3",
"gene_symbol": "WBP11",
"hgnc_id": 16461,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Arg451Gln"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000786473.1",
"gene_symbol": "GUCY2C-AS1",
"hgnc_id": 56054,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.574-1358C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}