← Back to variant description
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: 5-137625877-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=137625877&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 137625877,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000309755.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL3",
"gene_hgnc_id": 6354,
"hgvs_c": "c.1611G>T",
"hgvs_p": "p.Gly537Gly",
"transcript": "NM_017415.3",
"protein_id": "NP_059111.2",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 587,
"cds_start": 1611,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 2054,
"cdna_end": null,
"cdna_length": 6805,
"mane_select": "ENST00000309755.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL3",
"gene_hgnc_id": 6354,
"hgvs_c": "c.1611G>T",
"hgvs_p": "p.Gly537Gly",
"transcript": "ENST00000309755.9",
"protein_id": "ENSP00000312397.4",
"transcript_support_level": 1,
"aa_start": 537,
"aa_end": null,
"aa_length": 587,
"cds_start": 1611,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 2054,
"cdna_end": null,
"cdna_length": 6805,
"mane_select": "NM_017415.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL3",
"gene_hgnc_id": 6354,
"hgvs_c": "c.1515G>T",
"hgvs_p": "p.Gly505Gly",
"transcript": "ENST00000508657.5",
"protein_id": "ENSP00000422099.1",
"transcript_support_level": 1,
"aa_start": 505,
"aa_end": null,
"aa_length": 555,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 2230,
"cdna_end": null,
"cdna_length": 6981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL3",
"gene_hgnc_id": 6354,
"hgvs_c": "c.1365G>T",
"hgvs_p": "p.Gly455Gly",
"transcript": "ENST00000506491.5",
"protein_id": "ENSP00000424828.1",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 505,
"cds_start": 1365,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 6566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "KLHL3",
"gene_hgnc_id": 6354,
"hgvs_c": "n.1667G>T",
"hgvs_p": null,
"transcript": "ENST00000447439.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 2697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL3",
"gene_hgnc_id": 6354,
"hgvs_c": "c.1515G>T",
"hgvs_p": "p.Gly505Gly",
"transcript": "NM_001257194.1",
"protein_id": "NP_001244123.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 555,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 2230,
"cdna_end": null,
"cdna_length": 6981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL3",
"gene_hgnc_id": 6354,
"hgvs_c": "c.1365G>T",
"hgvs_p": "p.Gly455Gly",
"transcript": "NM_001257195.2",
"protein_id": "NP_001244124.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 505,
"cds_start": 1365,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1815,
"cdna_end": null,
"cdna_length": 6566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL3",
"gene_hgnc_id": 6354,
"hgvs_c": "n.*495G>T",
"hgvs_p": null,
"transcript": "ENST00000504208.5",
"protein_id": "ENSP00000423585.1",
"transcript_support_level": 2,
"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": 1566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL3",
"gene_hgnc_id": 6354,
"hgvs_c": "n.1134G>T",
"hgvs_p": null,
"transcript": "ENST00000506873.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL3",
"gene_hgnc_id": 6354,
"hgvs_c": "n.*495G>T",
"hgvs_p": null,
"transcript": "ENST00000504208.5",
"protein_id": "ENSP00000423585.1",
"transcript_support_level": 2,
"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": 1566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLHL3",
"gene_hgnc_id": 6354,
"hgvs_c": "n.622+2182G>T",
"hgvs_p": null,
"transcript": "ENST00000509694.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KLHL3",
"gene_hgnc_id": 6354,
"dbsnp": "rs17171525",
"frequency_reference_population": 0.041436102,
"hom_count_reference_population": 2071,
"allele_count_reference_population": 66884,
"gnomad_exomes_af": 0.0419682,
"gnomad_genomes_af": 0.0363287,
"gnomad_exomes_ac": 61351,
"gnomad_genomes_ac": 5533,
"gnomad_exomes_homalt": 1850,
"gnomad_genomes_homalt": 221,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.23999999463558197,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.184,
"phylop100way_prediction": "Benign",
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000309755.9",
"gene_symbol": "KLHL3",
"hgnc_id": 6354,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1611G>T",
"hgvs_p": "p.Gly537Gly"
}
],
"clinvar_disease": "Autosomal dominant pseudohypoaldosteronism type 1,Pseudohypoaldosteronism type 2D,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|Autosomal dominant pseudohypoaldosteronism type 1|Pseudohypoaldosteronism type 2D|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}