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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: 17-45286667-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=45286667&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 45286667,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003954.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.916T>C",
"hgvs_p": "p.Cys306Arg",
"transcript": "NM_003954.5",
"protein_id": "NP_003945.2",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 947,
"cds_start": 916,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344686.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003954.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.916T>C",
"hgvs_p": "p.Cys306Arg",
"transcript": "ENST00000344686.8",
"protein_id": "ENSP00000478552.1",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 947,
"cds_start": 916,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003954.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344686.8"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.916T>C",
"hgvs_p": "p.Cys306Arg",
"transcript": "ENST00000376926.8",
"protein_id": "ENSP00000482657.1",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 947,
"cds_start": 916,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376926.8"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.934T>C",
"hgvs_p": "p.Cys312Arg",
"transcript": "ENST00000970424.1",
"protein_id": "ENSP00000640483.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 953,
"cds_start": 934,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970424.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.916T>C",
"hgvs_p": "p.Cys306Arg",
"transcript": "ENST00000617331.3",
"protein_id": "ENSP00000480974.3",
"transcript_support_level": 5,
"aa_start": 306,
"aa_end": null,
"aa_length": 947,
"cds_start": 916,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617331.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.916T>C",
"hgvs_p": "p.Cys306Arg",
"transcript": "ENST00000902452.1",
"protein_id": "ENSP00000572511.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 947,
"cds_start": 916,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902452.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.916T>C",
"hgvs_p": "p.Cys306Arg",
"transcript": "ENST00000902453.1",
"protein_id": "ENSP00000572512.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 947,
"cds_start": 916,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902453.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.916T>C",
"hgvs_p": "p.Cys306Arg",
"transcript": "ENST00000970425.1",
"protein_id": "ENSP00000640484.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 947,
"cds_start": 916,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970425.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.916T>C",
"hgvs_p": "p.Cys306Arg",
"transcript": "ENST00000970426.1",
"protein_id": "ENSP00000640485.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 947,
"cds_start": 916,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970426.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.913T>C",
"hgvs_p": "p.Cys305Arg",
"transcript": "ENST00000970423.1",
"protein_id": "ENSP00000640482.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 946,
"cds_start": 913,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970423.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.916T>C",
"hgvs_p": "p.Cys306Arg",
"transcript": "XM_047436997.1",
"protein_id": "XP_047292953.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 1016,
"cds_start": 916,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436997.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.916T>C",
"hgvs_p": "p.Cys306Arg",
"transcript": "XM_047436998.1",
"protein_id": "XP_047292954.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 1016,
"cds_start": 916,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436998.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.916T>C",
"hgvs_p": "p.Cys306Arg",
"transcript": "XM_011525441.3",
"protein_id": "XP_011523743.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 947,
"cds_start": 916,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525441.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"hgvs_c": "c.537+487T>C",
"hgvs_p": null,
"transcript": "ENST00000970422.1",
"protein_id": "ENSP00000640481.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 742,
"cds_start": null,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970422.1"
}
],
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"dbsnp": "rs766805198",
"frequency_reference_population": 0.000045335644,
"hom_count_reference_population": 0,
"allele_count_reference_population": 73,
"gnomad_exomes_af": 0.0000493784,
"gnomad_genomes_af": 0.00000657531,
"gnomad_exomes_ac": 72,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.052223771810531616,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.045,
"revel_prediction": "Benign",
"alphamissense_score": 0.0903,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.696,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_003954.5",
"gene_symbol": "MAP3K14",
"hgnc_id": 6853,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.916T>C",
"hgvs_p": "p.Cys306Arg"
}
],
"clinvar_disease": "NIK deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "NIK deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}