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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: 15-37947673-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=37947673&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 37947673,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000319669.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO5A",
"gene_hgnc_id": 28558,
"hgvs_c": "c.645G>C",
"hgvs_p": "p.Lys215Asn",
"transcript": "NM_152453.4",
"protein_id": "NP_689666.2",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 288,
"cds_start": 645,
"cds_end": null,
"cds_length": 867,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 1212,
"mane_select": "ENST00000319669.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO5A",
"gene_hgnc_id": 28558,
"hgvs_c": "c.645G>C",
"hgvs_p": "p.Lys215Asn",
"transcript": "ENST00000319669.5",
"protein_id": "ENSP00000327234.4",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 288,
"cds_start": 645,
"cds_end": null,
"cds_length": 867,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 1212,
"mane_select": "NM_152453.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO5A",
"gene_hgnc_id": 28558,
"hgvs_c": "c.645G>C",
"hgvs_p": "p.Lys215Asn",
"transcript": "NM_001370737.1",
"protein_id": "NP_001357666.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 303,
"cds_start": 645,
"cds_end": null,
"cds_length": 912,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 1450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO5A",
"gene_hgnc_id": 28558,
"hgvs_c": "c.687G>C",
"hgvs_p": "p.Lys229Asn",
"transcript": "NM_001370736.1",
"protein_id": "NP_001357665.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 302,
"cds_start": 687,
"cds_end": null,
"cds_length": 909,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 1192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO5A",
"gene_hgnc_id": 28558,
"hgvs_c": "c.645G>C",
"hgvs_p": "p.Lys215Asn",
"transcript": "NM_001370735.1",
"protein_id": "NP_001357664.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 288,
"cds_start": 645,
"cds_end": null,
"cds_length": 867,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 1208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO5A",
"gene_hgnc_id": 28558,
"hgvs_c": "c.645G>C",
"hgvs_p": "p.Lys215Asn",
"transcript": "NM_001330255.2",
"protein_id": "NP_001317184.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 228,
"cds_start": 645,
"cds_end": null,
"cds_length": 687,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO5A",
"gene_hgnc_id": 28558,
"hgvs_c": "c.645G>C",
"hgvs_p": "p.Lys215Asn",
"transcript": "ENST00000559502.5",
"protein_id": "ENSP00000454112.1",
"transcript_support_level": 2,
"aa_start": 215,
"aa_end": null,
"aa_length": 228,
"cds_start": 645,
"cds_end": null,
"cds_length": 687,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 1939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO5A",
"gene_hgnc_id": 28558,
"hgvs_c": "c.645G>C",
"hgvs_p": "p.Lys215Asn",
"transcript": "XM_011521262.3",
"protein_id": "XP_011519564.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 239,
"cds_start": 645,
"cds_end": null,
"cds_length": 720,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO5A",
"gene_hgnc_id": 28558,
"hgvs_c": "c.645G>C",
"hgvs_p": "p.Lys215Asn",
"transcript": "XM_047432176.1",
"protein_id": "XP_047288132.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 239,
"cds_start": 645,
"cds_end": null,
"cds_length": 720,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 1780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO5A",
"gene_hgnc_id": 28558,
"hgvs_c": "c.645G>C",
"hgvs_p": "p.Lys215Asn",
"transcript": "XM_047432177.1",
"protein_id": "XP_047288133.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 239,
"cds_start": 645,
"cds_end": null,
"cds_length": 720,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 938,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO5A",
"gene_hgnc_id": 28558,
"hgvs_c": "n.*85G>C",
"hgvs_p": null,
"transcript": "ENST00000560653.5",
"protein_id": "ENSP00000453561.1",
"transcript_support_level": 5,
"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": 1072,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO5A",
"gene_hgnc_id": 28558,
"hgvs_c": "n.834G>C",
"hgvs_p": null,
"transcript": "NR_163584.1",
"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": 1244,
"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": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO5A",
"gene_hgnc_id": 28558,
"hgvs_c": "n.802G>C",
"hgvs_p": null,
"transcript": "NR_163585.1",
"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": 1447,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMCO5A",
"gene_hgnc_id": 28558,
"hgvs_c": "n.*85G>C",
"hgvs_p": null,
"transcript": "ENST00000560653.5",
"protein_id": "ENSP00000453561.1",
"transcript_support_level": 5,
"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": 1072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TMCO5A",
"gene_hgnc_id": 28558,
"dbsnp": "rs193920912",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07308545708656311,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.043,
"revel_prediction": "Benign",
"alphamissense_score": 0.1445,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.136,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000319669.5",
"gene_symbol": "TMCO5A",
"hgnc_id": 28558,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.645G>C",
"hgvs_p": "p.Lys215Asn"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}