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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: 17-45286574-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=45286574&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 45286574,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000344686.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1009C>T",
"hgvs_p": "p.Leu337Leu",
"transcript": "NM_003954.5",
"protein_id": "NP_003945.2",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 947,
"cds_start": 1009,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": "ENST00000344686.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1009C>T",
"hgvs_p": "p.Leu337Leu",
"transcript": "ENST00000344686.8",
"protein_id": "ENSP00000478552.1",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 947,
"cds_start": 1009,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": "NM_003954.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1009C>T",
"hgvs_p": "p.Leu337Leu",
"transcript": "ENST00000376926.8",
"protein_id": "ENSP00000482657.1",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 947,
"cds_start": 1009,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1009C>T",
"hgvs_p": "p.Leu337Leu",
"transcript": "ENST00000617331.3",
"protein_id": "ENSP00000480974.3",
"transcript_support_level": 5,
"aa_start": 337,
"aa_end": null,
"aa_length": 947,
"cds_start": 1009,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 3087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1009C>T",
"hgvs_p": "p.Leu337Leu",
"transcript": "XM_047436997.1",
"protein_id": "XP_047292953.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 1016,
"cds_start": 1009,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1009C>T",
"hgvs_p": "p.Leu337Leu",
"transcript": "XM_047436998.1",
"protein_id": "XP_047292954.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 1016,
"cds_start": 1009,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 4802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1009C>T",
"hgvs_p": "p.Leu337Leu",
"transcript": "XM_011525441.3",
"protein_id": "XP_011523743.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 947,
"cds_start": 1009,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 4595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MAP3K14",
"gene_hgnc_id": 6853,
"dbsnp": "rs374376396",
"frequency_reference_population": 0.0006646609,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1071,
"gnomad_exomes_af": 0.000662766,
"gnomad_genomes_af": 0.000682809,
"gnomad_exomes_ac": 967,
"gnomad_genomes_ac": 104,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.47999998927116394,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.987,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000344686.8",
"gene_symbol": "MAP3K14",
"hgnc_id": 6853,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1009C>T",
"hgvs_p": "p.Leu337Leu"
}
],
"clinvar_disease": "NIK deficiency,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "NIK deficiency|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}