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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: 11-2588816-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=2588816&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM5",
"PP2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KCNQ1",
"hgnc_id": 6294,
"hgvs_c": "c.1355G>A",
"hgvs_p": "p.Arg452Gln",
"inheritance_mode": "AD,AR",
"pathogenic_score": 3,
"score": 2,
"transcript": "NM_000218.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000296223",
"hgnc_id": null,
"hgvs_c": "n.608C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -1,
"transcript": "ENST00000737446.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5,PP2,BP4",
"acmg_score": 2,
"allele_count_reference_population": 275,
"alphamissense_prediction": null,
"alphamissense_score": 0.0687,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.09,
"chr": "11",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " 3, familial,Atrial fibrillation,Beckwith-Wiedemann syndrome,Cardiac arrhythmia,Cardiovascular phenotype,Congenital long QT syndrome,Familial atrial fibrillation,Jervell and Lange-Nielsen syndrome,Jervell and Lange-Nielsen syndrome 1,Long QT syndrome,Long QT syndrome 1,Short QT syndrome,Short QT syndrome type 2,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:12 LB:1 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0000864575122250244,
"computational_source_selected": "CardioboostArm",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 676,
"aa_ref": "R",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3224,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1355,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_000218.3",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.1355G>A",
"hgvs_p": "p.Arg452Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000155840.12",
"protein_coding": true,
"protein_id": "NP_000209.2",
"strand": true,
"transcript": "NM_000218.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 676,
"aa_ref": "R",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3224,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1355,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000155840.12",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.1355G>A",
"hgvs_p": "p.Arg452Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000218.3",
"protein_coding": true,
"protein_id": "ENSP00000155840.2",
"strand": true,
"transcript": "ENST00000155840.12",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2907,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 1650,
"cds_start": 974,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000335475.6",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Arg325Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334497.5",
"strand": true,
"transcript": "ENST00000335475.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 675,
"aa_ref": "R",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3107,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000910997.1",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Arg451Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581056.1",
"strand": true,
"transcript": "ENST00000910997.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 644,
"aa_ref": "R",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": 1350,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1259,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001406836.1",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.1259G>A",
"hgvs_p": "p.Arg420Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393765.1",
"strand": true,
"transcript": "NM_001406836.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 629,
"aa_ref": "R",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3083,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 1890,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000713725.1",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519029.1",
"strand": true,
"transcript": "ENST00000713725.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 586,
"aa_ref": "R",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3316,
"cdna_start": 1538,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1085,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001406837.1",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.1085G>A",
"hgvs_p": "p.Arg362Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393766.1",
"strand": true,
"transcript": "NM_001406837.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2694,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 1674,
"cds_start": 998,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000496887.7",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.998G>A",
"hgvs_p": "p.Arg333Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434560.2",
"strand": true,
"transcript": "ENST00000496887.7",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 549,
"aa_ref": "R",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3021,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 1650,
"cds_start": 974,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_181798.2",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Arg325Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_861463.1",
"strand": true,
"transcript": "NM_181798.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 496,
"aa_ref": "R",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2684,
"cdna_start": 906,
"cds_end": null,
"cds_length": 1491,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001406838.1",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393767.1",
"strand": true,
"transcript": "NM_001406838.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 428,
"aa_ref": "R",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1820,
"cdna_start": 906,
"cds_end": null,
"cds_length": 1287,
"cds_start": 815,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000646564.2",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "c.815G>A",
"hgvs_p": "p.Arg272Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495806.2",
"strand": true,
"transcript": "ENST00000646564.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3499,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000713724.1",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "n.*1321G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519028.1",
"strand": true,
"transcript": "ENST00000713724.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 736,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000737446.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000296223",
"hgvs_c": "n.608C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000737446.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 659,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000737447.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000296223",
"hgvs_c": "n.534C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000737447.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3499,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000713724.1",
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"hgvs_c": "n.*1321G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519028.1",
"strand": true,
"transcript": "ENST00000713724.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs145229963",
"effect": "missense_variant",
"frequency_reference_population": 0.00017048809,
"gene_hgnc_id": 6294,
"gene_symbol": "KCNQ1",
"gnomad_exomes_ac": 256,
"gnomad_exomes_af": 0.000175237,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 19,
"gnomad_genomes_af": 0.000124887,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Long QT syndrome|not provided|Atrial fibrillation, familial, 3;Beckwith-Wiedemann syndrome;Jervell and Lange-Nielsen syndrome 1;Short QT syndrome type 2;Long QT syndrome 1|Cardiac arrhythmia|Atrial fibrillation, familial, 3;Short QT syndrome type 2;Long QT syndrome 1|Congenital long QT syndrome|Cardiovascular phenotype|Familial atrial fibrillation|Jervell and Lange-Nielsen syndrome|Short QT syndrome|not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.591,
"pos": 2588816,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.644,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_000218.3"
}
]
}