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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: 21-34449429-TTGGA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=34449429&ref=TTGGA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 34449429,
"ref": "TTGGA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000399286.3",
"consequences": [
{
"aa_ref": "SK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.202_205delTCCA",
"hgvs_p": "p.Ser68fs",
"transcript": "NM_000219.6",
"protein_id": "NP_000210.2",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 129,
"cds_start": 202,
"cds_end": null,
"cds_length": 390,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": "ENST00000399286.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SK",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.202_205delTCCA",
"hgvs_p": "p.Ser68fs",
"transcript": "ENST00000399286.3",
"protein_id": "ENSP00000382226.2",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 129,
"cds_start": 202,
"cds_end": null,
"cds_length": 390,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": "NM_000219.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.202_205delTCCA",
"hgvs_p": "p.Ser68fs",
"transcript": "ENST00000399289.7",
"protein_id": "ENSP00000382228.3",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 129,
"cds_start": 202,
"cds_end": null,
"cds_length": 390,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.202_205delTCCA",
"hgvs_p": "p.Ser68fs",
"transcript": "ENST00000416357.6",
"protein_id": "ENSP00000416258.2",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 129,
"cds_start": 202,
"cds_end": null,
"cds_length": 390,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.202_205delTCCA",
"hgvs_p": "p.Ser68fs",
"transcript": "ENST00000432085.5",
"protein_id": "ENSP00000412498.1",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 129,
"cds_start": 202,
"cds_end": null,
"cds_length": 390,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.202_205delTCCA",
"hgvs_p": "p.Ser68fs",
"transcript": "NM_001127668.4",
"protein_id": "NP_001121140.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 129,
"cds_start": 202,
"cds_end": null,
"cds_length": 390,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.202_205delTCCA",
"hgvs_p": "p.Ser68fs",
"transcript": "NM_001127669.4",
"protein_id": "NP_001121141.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 129,
"cds_start": 202,
"cds_end": null,
"cds_length": 390,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.202_205delTCCA",
"hgvs_p": "p.Ser68fs",
"transcript": "NM_001127670.4",
"protein_id": "NP_001121142.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 129,
"cds_start": 202,
"cds_end": null,
"cds_length": 390,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 3419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.202_205delTCCA",
"hgvs_p": "p.Ser68fs",
"transcript": "NM_001270402.3",
"protein_id": "NP_001257331.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 129,
"cds_start": 202,
"cds_end": null,
"cds_length": 390,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 3330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.202_205delTCCA",
"hgvs_p": "p.Ser68fs",
"transcript": "NM_001270403.2",
"protein_id": "NP_001257332.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 129,
"cds_start": 202,
"cds_end": null,
"cds_length": 390,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.202_205delTCCA",
"hgvs_p": "p.Ser68fs",
"transcript": "NM_001270404.3",
"protein_id": "NP_001257333.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 129,
"cds_start": 202,
"cds_end": null,
"cds_length": 390,
"cdna_start": 479,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.202_205delTCCA",
"hgvs_p": "p.Ser68fs",
"transcript": "NM_001270405.3",
"protein_id": "NP_001257334.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 129,
"cds_start": 202,
"cds_end": null,
"cds_length": 390,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.202_205delTCCA",
"hgvs_p": "p.Ser68fs",
"transcript": "ENST00000337385.7",
"protein_id": "ENSP00000337255.3",
"transcript_support_level": 3,
"aa_start": 68,
"aa_end": null,
"aa_length": 129,
"cds_start": 202,
"cds_end": null,
"cds_length": 390,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 3347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.202_205delTCCA",
"hgvs_p": "p.Ser68fs",
"transcript": "ENST00000399284.1",
"protein_id": "ENSP00000382225.1",
"transcript_support_level": 2,
"aa_start": 68,
"aa_end": null,
"aa_length": 129,
"cds_start": 202,
"cds_end": null,
"cds_length": 390,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.202_205delTCCA",
"hgvs_p": "p.Ser68fs",
"transcript": "ENST00000611936.1",
"protein_id": "ENSP00000478215.1",
"transcript_support_level": 4,
"aa_start": 68,
"aa_end": null,
"aa_length": 129,
"cds_start": 202,
"cds_end": null,
"cds_length": 390,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 3222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.202_205delTCCA",
"hgvs_p": "p.Ser68fs",
"transcript": "ENST00000621601.4",
"protein_id": "ENSP00000483895.1",
"transcript_support_level": 4,
"aa_start": 68,
"aa_end": null,
"aa_length": 129,
"cds_start": 202,
"cds_end": null,
"cds_length": 390,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.211_214delTCCA",
"hgvs_p": "p.Ser71fs",
"transcript": "XM_047440764.1",
"protein_id": "XP_047296720.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 132,
"cds_start": 211,
"cds_end": null,
"cds_length": 399,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KCNE1",
"gene_hgnc_id": 6240,
"dbsnp": "rs1555843953",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.721,
"phylop100way_prediction": "Uncertain_significance",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000399286.3",
"gene_symbol": "KCNE1",
"hgnc_id": 6240,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.202_205delTCCA",
"hgvs_p": "p.Ser68fs"
}
],
"clinvar_disease": "Long QT syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Long QT syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}