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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: 1-241592136-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=241592136&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 241592136,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003679.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.1444A>C",
"hgvs_p": "p.Asn482His",
"transcript": "NM_003679.5",
"protein_id": "NP_003670.2",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 486,
"cds_start": 1444,
"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": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.1444A>C",
"hgvs_p": "p.Asn482His",
"transcript": "ENST00000366559.9",
"protein_id": "ENSP00000355517.4",
"transcript_support_level": 1,
"aa_start": 482,
"aa_end": null,
"aa_length": 486,
"cds_start": 1444,
"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": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.1405A>C",
"hgvs_p": "p.Asn469His",
"transcript": "ENST00000366558.7",
"protein_id": "ENSP00000355516.3",
"transcript_support_level": 1,
"aa_start": 469,
"aa_end": null,
"aa_length": 473,
"cds_start": 1405,
"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": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.1507A>C",
"hgvs_p": "p.Asn503His",
"transcript": "ENST00000881617.1",
"protein_id": "ENSP00000551676.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 507,
"cds_start": 1507,
"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": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.1477A>C",
"hgvs_p": "p.Asn493His",
"transcript": "ENST00000881619.1",
"protein_id": "ENSP00000551678.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 497,
"cds_start": 1477,
"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": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.1405A>C",
"hgvs_p": "p.Asn469His",
"transcript": "NM_001410944.1",
"protein_id": "NP_001397873.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 473,
"cds_start": 1405,
"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": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.1402A>C",
"hgvs_p": "p.Asn468His",
"transcript": "ENST00000970128.1",
"protein_id": "ENSP00000640187.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 472,
"cds_start": 1402,
"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": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.1384A>C",
"hgvs_p": "p.Asn462His",
"transcript": "ENST00000881616.1",
"protein_id": "ENSP00000551674.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 466,
"cds_start": 1384,
"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": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.1372A>C",
"hgvs_p": "p.Asn458His",
"transcript": "ENST00000970127.1",
"protein_id": "ENSP00000640186.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 462,
"cds_start": 1372,
"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": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.1342A>C",
"hgvs_p": "p.Asn448His",
"transcript": "ENST00000366557.8",
"protein_id": "ENSP00000355515.4",
"transcript_support_level": 5,
"aa_start": 448,
"aa_end": null,
"aa_length": 452,
"cds_start": 1342,
"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": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.1174A>C",
"hgvs_p": "p.Asn392His",
"transcript": "ENST00000881615.1",
"protein_id": "ENSP00000551673.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 396,
"cds_start": 1174,
"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": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.1102A>C",
"hgvs_p": "p.Asn368His",
"transcript": "ENST00000881618.1",
"protein_id": "ENSP00000551677.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 372,
"cds_start": 1102,
"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": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"hgvs_c": "c.499A>C",
"hgvs_p": "p.Asn167His",
"transcript": "ENST00000366555.5",
"protein_id": "ENSP00000355513.5",
"transcript_support_level": 5,
"aa_start": 167,
"aa_end": null,
"aa_length": 181,
"cds_start": 499,
"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"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OPN3",
"gene_hgnc_id": 14007,
"hgvs_c": "n.626-16T>G",
"hgvs_p": null,
"transcript": "ENST00000462265.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000462265.5"
}
],
"gene_symbol": "KMO",
"gene_hgnc_id": 6381,
"dbsnp": "rs1412542390",
"frequency_reference_population": 0.0000013685451,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136855,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08670717477798462,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": 0.0596,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.569,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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.1444A>C",
"hgvs_p": "p.Asn482His"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000462265.5",
"gene_symbol": "OPN3",
"hgnc_id": 14007,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.626-16T>G",
"hgvs_p": null
}
],
"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
}