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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: 1-241590241-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=241590241&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KMO",
"hgnc_id": 6381,
"hgvs_c": "c.1238A>G",
"hgvs_p": "p.Gln413Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_003679.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "OPN3",
"hgnc_id": 14007,
"hgvs_c": "n.737-81T>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000462265.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 29,
"alphamissense_prediction": null,
"alphamissense_score": 0.0643,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.15252822637557983,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 486,
"aa_ref": "Q",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5017,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1238,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_003679.5",
"gene_hgnc_id": 6381,
"gene_symbol": "KMO",
"hgvs_c": "c.1238A>G",
"hgvs_p": "p.Gln413Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366559.9",
"protein_coding": true,
"protein_id": "NP_003670.2",
"strand": true,
"transcript": "NM_003679.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 486,
"aa_ref": "Q",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5017,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1238,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000366559.9",
"gene_hgnc_id": 6381,
"gene_symbol": "KMO",
"hgvs_c": "c.1238A>G",
"hgvs_p": "p.Gln413Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003679.5",
"protein_coding": true,
"protein_id": "ENSP00000355517.4",
"strand": true,
"transcript": "ENST00000366559.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 473,
"aa_ref": "Q",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1868,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000366558.7",
"gene_hgnc_id": 6381,
"gene_symbol": "KMO",
"hgvs_c": "c.1199A>G",
"hgvs_p": "p.Gln400Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355516.3",
"strand": true,
"transcript": "ENST00000366558.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 507,
"aa_ref": "Q",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1724,
"cdna_start": 1265,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000881617.1",
"gene_hgnc_id": 6381,
"gene_symbol": "KMO",
"hgvs_c": "c.1199A>G",
"hgvs_p": "p.Gln400Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551676.1",
"strand": true,
"transcript": "ENST00000881617.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 497,
"aa_ref": "Q",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1687,
"cdna_start": 1333,
"cds_end": null,
"cds_length": 1494,
"cds_start": 1271,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000881619.1",
"gene_hgnc_id": 6381,
"gene_symbol": "KMO",
"hgvs_c": "c.1271A>G",
"hgvs_p": "p.Gln424Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551678.1",
"strand": true,
"transcript": "ENST00000881619.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 473,
"aa_ref": "Q",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4978,
"cdna_start": 1266,
"cds_end": null,
"cds_length": 1422,
"cds_start": 1199,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001410944.1",
"gene_hgnc_id": 6381,
"gene_symbol": "KMO",
"hgvs_c": "c.1199A>G",
"hgvs_p": "p.Gln400Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397873.1",
"strand": true,
"transcript": "NM_001410944.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 472,
"aa_ref": "Q",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1672,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 1419,
"cds_start": 1196,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000970128.1",
"gene_hgnc_id": 6381,
"gene_symbol": "KMO",
"hgvs_c": "c.1196A>G",
"hgvs_p": "p.Gln399Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640187.1",
"strand": true,
"transcript": "ENST00000970128.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 466,
"aa_ref": "Q",
"aa_start": 393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1602,
"cdna_start": 1245,
"cds_end": null,
"cds_length": 1401,
"cds_start": 1178,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000881616.1",
"gene_hgnc_id": 6381,
"gene_symbol": "KMO",
"hgvs_c": "c.1178A>G",
"hgvs_p": "p.Gln393Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551674.1",
"strand": true,
"transcript": "ENST00000881616.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 462,
"aa_ref": "Q",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1835,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1389,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970127.1",
"gene_hgnc_id": 6381,
"gene_symbol": "KMO",
"hgvs_c": "c.1166A>G",
"hgvs_p": "p.Gln389Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640186.1",
"strand": true,
"transcript": "ENST00000970127.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 452,
"aa_ref": "Q",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4888,
"cdna_start": 1176,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000366557.8",
"gene_hgnc_id": 6381,
"gene_symbol": "KMO",
"hgvs_c": "c.1136A>G",
"hgvs_p": "p.Gln379Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355515.4",
"strand": true,
"transcript": "ENST00000366557.8",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 396,
"aa_ref": "Q",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1397,
"cdna_start": 1037,
"cds_end": null,
"cds_length": 1191,
"cds_start": 968,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000881615.1",
"gene_hgnc_id": 6381,
"gene_symbol": "KMO",
"hgvs_c": "c.968A>G",
"hgvs_p": "p.Gln323Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551673.1",
"strand": true,
"transcript": "ENST00000881615.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 372,
"aa_ref": "Q",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1315,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1119,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881618.1",
"gene_hgnc_id": 6381,
"gene_symbol": "KMO",
"hgvs_c": "c.896A>G",
"hgvs_p": "p.Gln299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551677.1",
"strand": true,
"transcript": "ENST00000881618.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 181,
"aa_ref": "Q",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 609,
"cdna_start": 294,
"cds_end": null,
"cds_length": 546,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000366555.5",
"gene_hgnc_id": 6381,
"gene_symbol": "KMO",
"hgvs_c": "c.293A>G",
"hgvs_p": "p.Gln98Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355513.5",
"strand": true,
"transcript": "ENST00000366555.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 795,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000462265.5",
"gene_hgnc_id": 14007,
"gene_symbol": "OPN3",
"hgvs_c": "n.737-81T>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000462265.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1355049145",
"effect": "missense_variant",
"frequency_reference_population": 0.00001797021,
"gene_hgnc_id": 6381,
"gene_symbol": "KMO",
"gnomad_exomes_ac": 23,
"gnomad_exomes_af": 0.0000157368,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 6,
"gnomad_genomes_af": 0.0000394109,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.62,
"pos": 241590241,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.034,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.03999999910593033,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.04,
"transcript": "NM_003679.5"
}
]
}