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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: 17-42562786-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42562786&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42562786,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000393818.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COASY",
"gene_hgnc_id": 29932,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ser55Phe",
"transcript": "NM_025233.7",
"protein_id": "NP_079509.5",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 564,
"cds_start": 164,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 2479,
"mane_select": "ENST00000393818.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COASY",
"gene_hgnc_id": 29932,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ser55Phe",
"transcript": "ENST00000393818.3",
"protein_id": "ENSP00000377406.1",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 564,
"cds_start": 164,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 2479,
"mane_select": "NM_025233.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COASY",
"gene_hgnc_id": 29932,
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Ser84Phe",
"transcript": "ENST00000590958.5",
"protein_id": "ENSP00000464814.1",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 593,
"cds_start": 251,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 1976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COASY",
"gene_hgnc_id": 29932,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ser55Phe",
"transcript": "ENST00000421097.6",
"protein_id": "ENSP00000393564.2",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 564,
"cds_start": 164,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COASY",
"gene_hgnc_id": 29932,
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Ser84Phe",
"transcript": "NM_001042532.4",
"protein_id": "NP_001035997.2",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 593,
"cds_start": 251,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 2219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COASY",
"gene_hgnc_id": 29932,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ser55Phe",
"transcript": "NM_001042529.3",
"protein_id": "NP_001035994.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 564,
"cds_start": 164,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COASY",
"gene_hgnc_id": 29932,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ser55Phe",
"transcript": "ENST00000586771.1",
"protein_id": "ENSP00000466838.1",
"transcript_support_level": 3,
"aa_start": 55,
"aa_end": null,
"aa_length": 218,
"cds_start": 164,
"cds_end": null,
"cds_length": 659,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COASY",
"gene_hgnc_id": 29932,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ser55Phe",
"transcript": "ENST00000587214.1",
"protein_id": "ENSP00000468583.1",
"transcript_support_level": 4,
"aa_start": 55,
"aa_end": null,
"aa_length": 146,
"cds_start": 164,
"cds_end": null,
"cds_length": 442,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "COASY",
"gene_hgnc_id": 29932,
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Ser84Phe",
"transcript": "ENST00000587858.5",
"protein_id": "ENSP00000468755.1",
"transcript_support_level": 4,
"aa_start": 84,
"aa_end": null,
"aa_length": 127,
"cds_start": 251,
"cds_end": null,
"cds_length": 384,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COASY",
"gene_hgnc_id": 29932,
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Ser84Phe",
"transcript": "ENST00000585909.1",
"protein_id": "ENSP00000467519.1",
"transcript_support_level": 2,
"aa_start": 84,
"aa_end": null,
"aa_length": 97,
"cds_start": 251,
"cds_end": null,
"cds_length": 295,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COASY",
"gene_hgnc_id": 29932,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ser55Phe",
"transcript": "ENST00000585811.1",
"protein_id": "ENSP00000467174.1",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 89,
"cds_start": 164,
"cds_end": null,
"cds_length": 272,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COASY",
"gene_hgnc_id": 29932,
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Ser84Phe",
"transcript": "XM_006722116.5",
"protein_id": "XP_006722179.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 593,
"cds_start": 251,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 2198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COASY",
"gene_hgnc_id": 29932,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ser55Phe",
"transcript": "XM_011525300.2",
"protein_id": "XP_011523602.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 564,
"cds_start": 164,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COASY",
"gene_hgnc_id": 29932,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ser55Phe",
"transcript": "XM_047436849.1",
"protein_id": "XP_047292805.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 466,
"cds_start": 164,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COASY",
"gene_hgnc_id": 29932,
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ser55Phe",
"transcript": "XM_047436850.1",
"protein_id": "XP_047292806.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 362,
"cds_start": 164,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COASY",
"gene_hgnc_id": 29932,
"hgvs_c": "c.-575-147C>T",
"hgvs_p": null,
"transcript": "ENST00000591779.5",
"protein_id": "ENSP00000467687.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": -4,
"cds_end": null,
"cds_length": 347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "COASY",
"gene_hgnc_id": 29932,
"hgvs_c": "c.77-147C>T",
"hgvs_p": null,
"transcript": "ENST00000587157.1",
"protein_id": "ENSP00000467322.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 95,
"cds_start": -4,
"cds_end": null,
"cds_length": 290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COASY",
"gene_hgnc_id": 29932,
"dbsnp": "rs615942",
"frequency_reference_population": 6.860499e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8605e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.38184410333633423,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
"alphamissense_score": 0.1402,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.218,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000393818.3",
"gene_symbol": "COASY",
"hgnc_id": 29932,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.164C>T",
"hgvs_p": "p.Ser55Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}