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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: 21-34449517-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=34449517&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 34449517,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000399286.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"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": "KCNE1",
"gene_hgnc_id": 6240,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Gly40Ser",
"transcript": "NM_000219.6",
"protein_id": "NP_000210.2",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 129,
"cds_start": 118,
"cds_end": null,
"cds_length": 390,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": "ENST00000399286.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"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": "KCNE1",
"gene_hgnc_id": 6240,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Gly40Ser",
"transcript": "ENST00000399286.3",
"protein_id": "ENSP00000382226.2",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 129,
"cds_start": 118,
"cds_end": null,
"cds_length": 390,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": "NM_000219.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "KCNE1",
"gene_hgnc_id": 6240,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Gly40Ser",
"transcript": "ENST00000399289.7",
"protein_id": "ENSP00000382228.3",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 129,
"cds_start": 118,
"cds_end": null,
"cds_length": 390,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "KCNE1",
"gene_hgnc_id": 6240,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Gly40Ser",
"transcript": "ENST00000416357.6",
"protein_id": "ENSP00000416258.2",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 129,
"cds_start": 118,
"cds_end": null,
"cds_length": 390,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "KCNE1",
"gene_hgnc_id": 6240,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Gly40Ser",
"transcript": "ENST00000432085.5",
"protein_id": "ENSP00000412498.1",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 129,
"cds_start": 118,
"cds_end": null,
"cds_length": 390,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "KCNE1",
"gene_hgnc_id": 6240,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Gly40Ser",
"transcript": "NM_001127668.4",
"protein_id": "NP_001121140.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 129,
"cds_start": 118,
"cds_end": null,
"cds_length": 390,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "KCNE1",
"gene_hgnc_id": 6240,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Gly40Ser",
"transcript": "NM_001127669.4",
"protein_id": "NP_001121141.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 129,
"cds_start": 118,
"cds_end": null,
"cds_length": 390,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "KCNE1",
"gene_hgnc_id": 6240,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Gly40Ser",
"transcript": "NM_001127670.4",
"protein_id": "NP_001121142.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 129,
"cds_start": 118,
"cds_end": null,
"cds_length": 390,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 3419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "KCNE1",
"gene_hgnc_id": 6240,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Gly40Ser",
"transcript": "NM_001270402.3",
"protein_id": "NP_001257331.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 129,
"cds_start": 118,
"cds_end": null,
"cds_length": 390,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 3330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "KCNE1",
"gene_hgnc_id": 6240,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Gly40Ser",
"transcript": "NM_001270403.2",
"protein_id": "NP_001257332.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 129,
"cds_start": 118,
"cds_end": null,
"cds_length": 390,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "KCNE1",
"gene_hgnc_id": 6240,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Gly40Ser",
"transcript": "NM_001270404.3",
"protein_id": "NP_001257333.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 129,
"cds_start": 118,
"cds_end": null,
"cds_length": 390,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "KCNE1",
"gene_hgnc_id": 6240,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Gly40Ser",
"transcript": "NM_001270405.3",
"protein_id": "NP_001257334.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 129,
"cds_start": 118,
"cds_end": null,
"cds_length": 390,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "KCNE1",
"gene_hgnc_id": 6240,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Gly40Ser",
"transcript": "ENST00000337385.7",
"protein_id": "ENSP00000337255.3",
"transcript_support_level": 3,
"aa_start": 40,
"aa_end": null,
"aa_length": 129,
"cds_start": 118,
"cds_end": null,
"cds_length": 390,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 3347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "KCNE1",
"gene_hgnc_id": 6240,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Gly40Ser",
"transcript": "ENST00000399284.1",
"protein_id": "ENSP00000382225.1",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 129,
"cds_start": 118,
"cds_end": null,
"cds_length": 390,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "KCNE1",
"gene_hgnc_id": 6240,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Gly40Ser",
"transcript": "ENST00000611936.1",
"protein_id": "ENSP00000478215.1",
"transcript_support_level": 4,
"aa_start": 40,
"aa_end": null,
"aa_length": 129,
"cds_start": 118,
"cds_end": null,
"cds_length": 390,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 3222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "KCNE1",
"gene_hgnc_id": 6240,
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Gly40Ser",
"transcript": "ENST00000621601.4",
"protein_id": "ENSP00000483895.1",
"transcript_support_level": 4,
"aa_start": 40,
"aa_end": null,
"aa_length": 129,
"cds_start": 118,
"cds_end": null,
"cds_length": 390,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "KCNE1",
"gene_hgnc_id": 6240,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Gly43Ser",
"transcript": "XM_047440764.1",
"protein_id": "XP_047296720.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 132,
"cds_start": 127,
"cds_end": null,
"cds_length": 399,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNE1",
"gene_hgnc_id": 6240,
"dbsnp": "rs778439872",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0.0000269591,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 10,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.014184296131134033,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.259,
"revel_prediction": "Benign",
"alphamissense_score": 0.0674,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.677,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000399286.3",
"gene_symbol": "KCNE1",
"hgnc_id": 6240,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.118G>A",
"hgvs_p": "p.Gly40Ser"
}
],
"clinvar_disease": "Cardiovascular phenotype,KCNE1-related disorder,Long QT syndrome,Long QT syndrome 5,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "not provided|Long QT syndrome|KCNE1-related disorder|Long QT syndrome 5|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}