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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: 5-137634104-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=137634104&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "KLHL3",
"hgnc_id": 6354,
"hgvs_c": "c.1383G>A",
"hgvs_p": "p.Glu461Glu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_017415.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_score": -19,
"allele_count_reference_population": 313908,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "5",
"clinvar_classification": "Benign",
"clinvar_disease": "Autosomal dominant pseudohypoaldosteronism type 1,Pseudohypoaldosteronism type 2D,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 587,
"aa_ref": "E",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6805,
"cdna_start": 1826,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1383,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_017415.3",
"gene_hgnc_id": 6354,
"gene_symbol": "KLHL3",
"hgvs_c": "c.1383G>A",
"hgvs_p": "p.Glu461Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000309755.9",
"protein_coding": true,
"protein_id": "NP_059111.2",
"strand": false,
"transcript": "NM_017415.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 587,
"aa_ref": "E",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6805,
"cdna_start": 1826,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1383,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000309755.9",
"gene_hgnc_id": 6354,
"gene_symbol": "KLHL3",
"hgvs_c": "c.1383G>A",
"hgvs_p": "p.Glu461Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017415.3",
"protein_coding": true,
"protein_id": "ENSP00000312397.4",
"strand": false,
"transcript": "ENST00000309755.9",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 555,
"aa_ref": "E",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6981,
"cdna_start": 2002,
"cds_end": null,
"cds_length": 1668,
"cds_start": 1287,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000508657.5",
"gene_hgnc_id": 6354,
"gene_symbol": "KLHL3",
"hgvs_c": "c.1287G>A",
"hgvs_p": "p.Glu429Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422099.1",
"strand": false,
"transcript": "ENST00000508657.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 505,
"aa_ref": "E",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6566,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1137,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000506491.5",
"gene_hgnc_id": 6354,
"gene_symbol": "KLHL3",
"hgvs_c": "c.1137G>A",
"hgvs_p": "p.Glu379Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424828.1",
"strand": false,
"transcript": "ENST00000506491.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 928,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000502381.1",
"gene_hgnc_id": 6354,
"gene_symbol": "KLHL3",
"hgvs_c": "n.868G>A",
"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": "ENST00000502381.1",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 593,
"aa_ref": "E",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2999,
"cdna_start": 1778,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1401,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000941327.1",
"gene_hgnc_id": 6354,
"gene_symbol": "KLHL3",
"hgvs_c": "c.1401G>A",
"hgvs_p": "p.Glu467Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611386.1",
"strand": false,
"transcript": "ENST00000941327.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 555,
"aa_ref": "E",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6981,
"cdna_start": 2002,
"cds_end": null,
"cds_length": 1668,
"cds_start": 1287,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001257194.1",
"gene_hgnc_id": 6354,
"gene_symbol": "KLHL3",
"hgvs_c": "c.1287G>A",
"hgvs_p": "p.Glu429Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244123.1",
"strand": false,
"transcript": "NM_001257194.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 553,
"aa_ref": "E",
"aa_start": 427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6835,
"cdna_start": 1856,
"cds_end": null,
"cds_length": 1662,
"cds_start": 1281,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000896230.1",
"gene_hgnc_id": 6354,
"gene_symbol": "KLHL3",
"hgvs_c": "c.1281G>A",
"hgvs_p": "p.Glu427Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566289.1",
"strand": false,
"transcript": "ENST00000896230.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 546,
"aa_ref": "E",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2728,
"cdna_start": 1456,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1260,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000896232.1",
"gene_hgnc_id": 6354,
"gene_symbol": "KLHL3",
"hgvs_c": "c.1260G>A",
"hgvs_p": "p.Glu420Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566291.1",
"strand": false,
"transcript": "ENST00000896232.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 505,
"aa_ref": "E",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6566,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1137,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001257195.2",
"gene_hgnc_id": 6354,
"gene_symbol": "KLHL3",
"hgvs_c": "c.1137G>A",
"hgvs_p": "p.Glu379Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244124.1",
"strand": false,
"transcript": "NM_001257195.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 510,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2861,
"cdna_start": null,
"cds_end": null,
"cds_length": 1533,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896231.1",
"gene_hgnc_id": 6354,
"gene_symbol": "KLHL3",
"hgvs_c": "c.1219+4849G>A",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566290.1",
"strand": false,
"transcript": "ENST00000896231.1",
"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": 1883,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000506873.5",
"gene_hgnc_id": 6354,
"gene_symbol": "KLHL3",
"hgvs_c": "n.906G>A",
"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": "ENST00000506873.5",
"transcript_support_level": 2
},
{
"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": 1566,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000504208.5",
"gene_hgnc_id": 6354,
"gene_symbol": "KLHL3",
"hgvs_c": "n.*335-5667G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000423585.1",
"strand": false,
"transcript": "ENST00000504208.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2301708",
"effect": "synonymous_variant",
"frequency_reference_population": 0.194503,
"gene_hgnc_id": 6354,
"gene_symbol": "KLHL3",
"gnomad_exomes_ac": 286756,
"gnomad_exomes_af": 0.196183,
"gnomad_exomes_homalt": 29561,
"gnomad_genomes_ac": 27152,
"gnomad_genomes_af": 0.178369,
"gnomad_genomes_homalt": 2887,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 32448,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|Autosomal dominant pseudohypoaldosteronism type 1|Pseudohypoaldosteronism type 2D|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.972,
"pos": 137634104,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_017415.3"
}
]
}