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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: 2-142956235-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=142956235&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 142956235,
"ref": "T",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000264170.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.468T>A",
"hgvs_p": "p.Tyr156*",
"transcript": "NM_003937.3",
"protein_id": "NP_003928.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 465,
"cds_start": 468,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 15151,
"mane_select": "ENST00000264170.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.468T>A",
"hgvs_p": "p.Tyr156*",
"transcript": "ENST00000264170.9",
"protein_id": "ENSP00000264170.4",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 465,
"cds_start": 468,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 15151,
"mane_select": "NM_003937.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.468T>A",
"hgvs_p": "p.Tyr156*",
"transcript": "ENST00000409512.5",
"protein_id": "ENSP00000386731.1",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 465,
"cds_start": 468,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 1576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.468T>A",
"hgvs_p": "p.Tyr156*",
"transcript": "ENST00000375773.6",
"protein_id": "ENSP00000364928.2",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 307,
"cds_start": 468,
"cds_end": null,
"cds_length": 924,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.468T>A",
"hgvs_p": "p.Tyr156*",
"transcript": "NM_001199241.2",
"protein_id": "NP_001186170.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 465,
"cds_start": 468,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 15237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.468T>A",
"hgvs_p": "p.Tyr156*",
"transcript": "NM_001032998.2",
"protein_id": "NP_001028170.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 307,
"cds_start": 468,
"cds_end": null,
"cds_length": 924,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 1778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.441T>A",
"hgvs_p": "p.Tyr147*",
"transcript": "ENST00000621320.4",
"protein_id": "ENSP00000484801.1",
"transcript_support_level": 3,
"aa_start": 147,
"aa_end": null,
"aa_length": 236,
"cds_start": 441,
"cds_end": null,
"cds_length": 711,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.228T>A",
"hgvs_p": "p.Tyr76*",
"transcript": "ENST00000612147.4",
"protein_id": "ENSP00000481930.1",
"transcript_support_level": 3,
"aa_start": 76,
"aa_end": null,
"aa_length": 167,
"cds_start": 228,
"cds_end": null,
"cds_length": 504,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.177T>A",
"hgvs_p": "p.Tyr59*",
"transcript": "ENST00000613664.1",
"protein_id": "ENSP00000482009.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 156,
"cds_start": 177,
"cds_end": null,
"cds_length": 471,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.468T>A",
"hgvs_p": "p.Tyr156*",
"transcript": "XM_047446250.1",
"protein_id": "XP_047302206.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 358,
"cds_start": 468,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 1263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.468T>A",
"hgvs_p": "p.Tyr156*",
"transcript": "XM_017005217.2",
"protein_id": "XP_016860706.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 307,
"cds_start": 468,
"cds_end": null,
"cds_length": 924,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 1687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.468T>A",
"hgvs_p": "p.Tyr156*",
"transcript": "XM_047446251.1",
"protein_id": "XP_047302207.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 307,
"cds_start": 468,
"cds_end": null,
"cds_length": 924,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 1773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.468T>A",
"hgvs_p": "p.Tyr156*",
"transcript": "XM_047446252.1",
"protein_id": "XP_047302208.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 307,
"cds_start": 468,
"cds_end": null,
"cds_length": 924,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "c.468T>A",
"hgvs_p": "p.Tyr156*",
"transcript": "XM_047446253.1",
"protein_id": "XP_047302209.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 301,
"cds_start": 468,
"cds_end": null,
"cds_length": 906,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 998,
"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": "KYNU",
"gene_hgnc_id": 6469,
"hgvs_c": "n.229T>A",
"hgvs_p": null,
"transcript": "ENST00000460143.1",
"protein_id": null,
"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": 703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KYNU",
"gene_hgnc_id": 6469,
"dbsnp": "rs758865880",
"frequency_reference_population": 0.000057345955,
"hom_count_reference_population": 0,
"allele_count_reference_population": 92,
"gnomad_exomes_af": 0.0000578462,
"gnomad_genomes_af": 0.0000525721,
"gnomad_exomes_ac": 84,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5400000214576721,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.54,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -0.04,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000264170.9",
"gene_symbol": "KYNU",
"hgnc_id": 6469,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.468T>A",
"hgvs_p": "p.Tyr156*"
}
],
"clinvar_disease": " and limb defects syndrome 2, cardiac, renal,Congenital NAD deficiency disorder,Vertebral,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Vertebral, cardiac, renal, and limb defects syndrome 2|Congenital NAD deficiency disorder|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}