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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: 11-74457554-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=74457554&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 74457554,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000310128.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNE3",
"gene_hgnc_id": 6243,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "NM_005472.5",
"protein_id": "NP_005463.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 103,
"cds_start": 10,
"cds_end": null,
"cds_length": 312,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": "ENST00000310128.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNE3",
"gene_hgnc_id": 6243,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "ENST00000310128.9",
"protein_id": "ENSP00000310557.4",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 103,
"cds_start": 10,
"cds_end": null,
"cds_length": 312,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": "NM_005472.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNE3",
"gene_hgnc_id": 6243,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "ENST00000525550.1",
"protein_id": "ENSP00000433633.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 103,
"cds_start": 10,
"cds_end": null,
"cds_length": 312,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNE3",
"gene_hgnc_id": 6243,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "ENST00000532569.5",
"protein_id": "ENSP00000431739.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 98,
"cds_start": 10,
"cds_end": null,
"cds_length": 298,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNE3",
"gene_hgnc_id": 6243,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "ENST00000531854.5",
"protein_id": "ENSP00000433697.1",
"transcript_support_level": 3,
"aa_start": 4,
"aa_end": null,
"aa_length": 51,
"cds_start": 10,
"cds_end": null,
"cds_length": 158,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNE3",
"gene_hgnc_id": 6243,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "ENST00000529425.5",
"protein_id": "ENSP00000434890.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 48,
"cds_start": 10,
"cds_end": null,
"cds_length": 149,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNE3",
"gene_hgnc_id": 6243,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "ENST00000526855.1",
"protein_id": "ENSP00000435539.1",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 11,
"cds_start": 10,
"cds_end": null,
"cds_length": 37,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNE3",
"gene_hgnc_id": 6243,
"hgvs_c": "c.142A>G",
"hgvs_p": "p.Thr48Ala",
"transcript": "XM_011544713.3",
"protein_id": "XP_011543015.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 147,
"cds_start": 142,
"cds_end": null,
"cds_length": 444,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNE3",
"gene_hgnc_id": 6243,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "XM_017017047.2",
"protein_id": "XP_016872536.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 103,
"cds_start": 10,
"cds_end": null,
"cds_length": 312,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 3172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNE3",
"gene_hgnc_id": 6243,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "XM_017017048.2",
"protein_id": "XP_016872537.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 103,
"cds_start": 10,
"cds_end": null,
"cds_length": 312,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 3236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNE3",
"gene_hgnc_id": 6243,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "XM_017017049.2",
"protein_id": "XP_016872538.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 103,
"cds_start": 10,
"cds_end": null,
"cds_length": 312,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 3086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNE3",
"gene_hgnc_id": 6243,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "XM_017017051.3",
"protein_id": "XP_016872540.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 103,
"cds_start": 10,
"cds_end": null,
"cds_length": 312,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNE3",
"gene_hgnc_id": 6243,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "XM_047426176.1",
"protein_id": "XP_047282132.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 103,
"cds_start": 10,
"cds_end": null,
"cds_length": 312,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNE3",
"gene_hgnc_id": 6243,
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala",
"transcript": "XM_047426177.1",
"protein_id": "XP_047282133.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 103,
"cds_start": 10,
"cds_end": null,
"cds_length": 312,
"cdna_start": 3259,
"cdna_end": null,
"cdna_length": 5972,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000254928",
"gene_hgnc_id": null,
"hgvs_c": "n.1035T>C",
"hgvs_p": null,
"transcript": "ENST00000759310.1",
"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": 1329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000254631",
"gene_hgnc_id": null,
"hgvs_c": "n.155-26623T>C",
"hgvs_p": null,
"transcript": "ENST00000533008.1",
"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": 344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNE3",
"gene_hgnc_id": 6243,
"dbsnp": "rs200856070",
"frequency_reference_population": 0.000053278618,
"hom_count_reference_population": 0,
"allele_count_reference_population": 86,
"gnomad_exomes_af": 0.0000533569,
"gnomad_genomes_af": 0.0000525272,
"gnomad_exomes_ac": 78,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009570926427841187,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.447,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0616,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.11,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000310128.9",
"gene_symbol": "KCNE3",
"hgnc_id": 6243,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.10A>G",
"hgvs_p": "p.Thr4Ala"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000759310.1",
"gene_symbol": "ENSG00000254928",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1035T>C",
"hgvs_p": null
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000533008.1",
"gene_symbol": "ENSG00000254631",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.155-26623T>C",
"hgvs_p": null
}
],
"clinvar_disease": " neonatal severe, with lactic acidosis and brain abnormalities,Brugada syndrome 6,Cardiovascular phenotype,Encephalopathy,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:3 LB:1",
"phenotype_combined": "not provided|not specified|Brugada syndrome 6|Cardiovascular phenotype|Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}