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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: 1-241568552-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=241568552&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 241568552,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003679.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Val288Ile",
"transcript": "NM_003679.5",
"protein_id": "NP_003670.2",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 486,
"cds_start": 862,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366559.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003679.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Val288Ile",
"transcript": "ENST00000366559.9",
"protein_id": "ENSP00000355517.4",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 486,
"cds_start": 862,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003679.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366559.9"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Val288Ile",
"transcript": "ENST00000366558.7",
"protein_id": "ENSP00000355516.3",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 473,
"cds_start": 862,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366558.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Val288Ile",
"transcript": "ENST00000881617.1",
"protein_id": "ENSP00000551676.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 507,
"cds_start": 862,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881617.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.895G>A",
"hgvs_p": "p.Val299Ile",
"transcript": "ENST00000881619.1",
"protein_id": "ENSP00000551678.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 497,
"cds_start": 895,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881619.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Val288Ile",
"transcript": "NM_001410944.1",
"protein_id": "NP_001397873.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 473,
"cds_start": 862,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410944.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Val288Ile",
"transcript": "ENST00000970128.1",
"protein_id": "ENSP00000640187.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 472,
"cds_start": 862,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970128.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Val288Ile",
"transcript": "ENST00000881616.1",
"protein_id": "ENSP00000551674.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 466,
"cds_start": 862,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881616.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.790G>A",
"hgvs_p": "p.Val264Ile",
"transcript": "ENST00000970127.1",
"protein_id": "ENSP00000640186.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 462,
"cds_start": 790,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970127.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Val288Ile",
"transcript": "ENST00000366557.8",
"protein_id": "ENSP00000355515.4",
"transcript_support_level": 5,
"aa_start": 288,
"aa_end": null,
"aa_length": 452,
"cds_start": 862,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366557.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.687+3494G>A",
"hgvs_p": null,
"transcript": "ENST00000881615.1",
"protein_id": "ENSP00000551673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": null,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881615.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.615+6220G>A",
"hgvs_p": null,
"transcript": "ENST00000881618.1",
"protein_id": "ENSP00000551677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": null,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881618.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "n.451G>A",
"hgvs_p": null,
"transcript": "ENST00000431245.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000431245.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.-84G>A",
"hgvs_p": null,
"transcript": "ENST00000366555.5",
"protein_id": "ENSP00000355513.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366555.5"
}
],
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"dbsnp": "rs778800946",
"frequency_reference_population": 0.000005473873,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000547387,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0942281186580658,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.0665,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.562,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003679.5",
"gene_symbol": "KMO",
"hgnc_id": 6381,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Val288Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}