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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: 11-2662023-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=2662023&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 2662023,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000155840.12",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ1",
"gene_hgnc_id": 6294,
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Ala486Thr",
"transcript": "NM_000218.3",
"protein_id": "NP_000209.2",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 676,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 3224,
"mane_select": "ENST00000155840.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ1",
"gene_hgnc_id": 6294,
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Ala486Thr",
"transcript": "ENST00000155840.12",
"protein_id": "ENSP00000155840.2",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 676,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 3224,
"mane_select": "NM_000218.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ1",
"gene_hgnc_id": 6294,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "ENST00000335475.6",
"protein_id": "ENSP00000334497.5",
"transcript_support_level": 1,
"aa_start": 359,
"aa_end": null,
"aa_length": 549,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 2907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ1",
"gene_hgnc_id": 6294,
"hgvs_c": "c.1360G>A",
"hgvs_p": "p.Ala454Thr",
"transcript": "NM_001406836.1",
"protein_id": "NP_001393765.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 644,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ1",
"gene_hgnc_id": 6294,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Ala439Thr",
"transcript": "ENST00000713725.1",
"protein_id": "ENSP00000519029.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 629,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 3083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ1",
"gene_hgnc_id": 6294,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Ala396Thr",
"transcript": "NM_001406837.1",
"protein_id": "NP_001393766.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 586,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ1",
"gene_hgnc_id": 6294,
"hgvs_c": "c.1099G>A",
"hgvs_p": "p.Ala367Thr",
"transcript": "ENST00000496887.7",
"protein_id": "ENSP00000434560.2",
"transcript_support_level": 5,
"aa_start": 367,
"aa_end": null,
"aa_length": 557,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ1",
"gene_hgnc_id": 6294,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Ala359Thr",
"transcript": "NM_181798.2",
"protein_id": "NP_861463.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 549,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 3021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ1",
"gene_hgnc_id": 6294,
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Ala306Thr",
"transcript": "NM_001406838.1",
"protein_id": "NP_001393767.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 496,
"cds_start": 916,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 2684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ1",
"gene_hgnc_id": 6294,
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Ala306Thr",
"transcript": "ENST00000646564.2",
"protein_id": "ENSP00000495806.2",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 428,
"cds_start": 916,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 1820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ1OT1",
"gene_hgnc_id": 6295,
"hgvs_c": "n.37972C>T",
"hgvs_p": null,
"transcript": "ENST00000597346.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 91667,
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ1",
"gene_hgnc_id": 6294,
"hgvs_c": "n.*1422G>A",
"hgvs_p": null,
"transcript": "ENST00000713724.1",
"protein_id": "ENSP00000519028.1",
"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": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ1OT1",
"gene_hgnc_id": 6295,
"hgvs_c": "n.37972C>T",
"hgvs_p": null,
"transcript": "NR_002728.4",
"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": 91667,
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNQ1",
"gene_hgnc_id": 6294,
"hgvs_c": "n.*1422G>A",
"hgvs_p": null,
"transcript": "ENST00000713724.1",
"protein_id": "ENSP00000519028.1",
"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": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KCNQ1OT1",
"gene_hgnc_id": 6295,
"hgvs_c": "n.376-20908C>T",
"hgvs_p": null,
"transcript": "ENST00000710656.1",
"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": 679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNQ1OT1",
"gene_hgnc_id": 6295,
"hgvs_c": "n.669+37305C>T",
"hgvs_p": null,
"transcript": "ENST00000710657.1",
"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": 1390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNQ1OT1",
"gene_hgnc_id": 6295,
"hgvs_c": "n.668-20908C>T",
"hgvs_p": null,
"transcript": "ENST00000710658.1",
"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": 1221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KCNQ1OT1",
"gene_hgnc_id": 6295,
"hgvs_c": "n.270+37305C>T",
"hgvs_p": null,
"transcript": "ENST00000710661.1",
"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": 576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNQ1OT1",
"gene_hgnc_id": 6295,
"hgvs_c": "n.140-20908C>T",
"hgvs_p": null,
"transcript": "ENST00000710662.1",
"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": 692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNQ1OT1",
"gene_hgnc_id": 6295,
"hgvs_c": "n.655+37305C>T",
"hgvs_p": null,
"transcript": "ENST00000710673.1",
"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": 873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNQ1OT1",
"gene_hgnc_id": 6295,
"hgvs_c": "n.668-20908C>T",
"hgvs_p": null,
"transcript": "ENST00000710674.1",
"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": 1924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNQ1",
"gene_hgnc_id": 6294,
"dbsnp": "rs753256800",
"frequency_reference_population": 0.000017101243,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000171012,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00006478579598478973,
"computational_prediction_selected": "Benign",
"computational_source_selected": "CardioboostArm",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.526,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0779,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.388,
"phylop100way_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 2,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000155840.12",
"gene_symbol": "KCNQ1",
"hgnc_id": 6294,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1456G>A",
"hgvs_p": "p.Ala486Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_002728.4",
"gene_symbol": "KCNQ1OT1",
"hgnc_id": 6295,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "n.37972C>T",
"hgvs_p": null
}
],
"clinvar_disease": " 3, familial,Atrial fibrillation,Beckwith-Wiedemann syndrome,Cardiac arrhythmia,Cardiovascular phenotype,Jervell and Lange-Nielsen syndrome 1,KCNQ1-related disorder,Long QT syndrome,Long QT syndrome 1,Short QT syndrome type 2,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:6 LB:1",
"phenotype_combined": "not provided|Cardiac arrhythmia|Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Jervell and Lange-Nielsen syndrome 1;Long QT syndrome 1;Short QT syndrome type 2|Long QT syndrome|Cardiovascular phenotype|KCNQ1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}