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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: 16-68695882-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=68695882&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 68695882,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000264012.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Arg747Trp",
"transcript": "NM_001793.6",
"protein_id": "NP_001784.2",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 829,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 2309,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": "ENST00000264012.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Arg747Trp",
"transcript": "ENST00000264012.9",
"protein_id": "ENSP00000264012.4",
"transcript_support_level": 1,
"aa_start": 747,
"aa_end": null,
"aa_length": 829,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 2309,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": "NM_001793.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Arg747Trp",
"transcript": "ENST00000429102.6",
"protein_id": "ENSP00000398485.2",
"transcript_support_level": 1,
"aa_start": 747,
"aa_end": null,
"aa_length": 784,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 2626,
"cdna_end": null,
"cdna_length": 3611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Arg747Trp",
"transcript": "NM_001317195.3",
"protein_id": "NP_001304124.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 784,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 2309,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "c.2074C>T",
"hgvs_p": "p.Arg692Trp",
"transcript": "NM_001317196.2",
"protein_id": "NP_001304125.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 774,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 4337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Trp",
"transcript": "ENST00000568292.1",
"protein_id": "ENSP00000463364.1",
"transcript_support_level": 2,
"aa_start": 106,
"aa_end": null,
"aa_length": 154,
"cds_start": 316,
"cds_end": null,
"cds_length": 465,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "c.58C>T",
"hgvs_p": "p.Arg20Trp",
"transcript": "ENST00000569080.2",
"protein_id": "ENSP00000463415.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 81,
"cds_start": 58,
"cds_end": null,
"cds_length": 246,
"cdna_start": 58,
"cdna_end": null,
"cdna_length": 607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Arg747Trp",
"transcript": "XM_011522800.4",
"protein_id": "XP_011521102.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 808,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2309,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Arg747Trp",
"transcript": "XM_047433450.1",
"protein_id": "XP_047289406.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 808,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2309,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "n.*1977C>T",
"hgvs_p": null,
"transcript": "ENST00000542274.5",
"protein_id": "ENSP00000464021.1",
"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": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "n.*444C>T",
"hgvs_p": null,
"transcript": "ENST00000567674.1",
"protein_id": "ENSP00000463267.1",
"transcript_support_level": 3,
"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": 892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "n.*1977C>T",
"hgvs_p": null,
"transcript": "ENST00000542274.5",
"protein_id": "ENSP00000464021.1",
"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": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "n.*444C>T",
"hgvs_p": null,
"transcript": "ENST00000567674.1",
"protein_id": "ENSP00000463267.1",
"transcript_support_level": 3,
"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": 892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"dbsnp": "rs17715450",
"frequency_reference_population": 0.0000068163454,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000684073,
"gnomad_genomes_af": 0.00000658172,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8781896233558655,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.726,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3829,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.22,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.742,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000264012.9",
"gene_symbol": "CDH3",
"hgnc_id": 1762,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Arg747Trp"
}
],
"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
}