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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: 15-84655375-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=84655375&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 84655375,
"ref": "C",
"alt": "T",
"effect": "stop_retained_variant",
"transcript": "ENST00000360476.8",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMB",
"gene_hgnc_id": 7842,
"hgvs_c": "c.360G>A",
"hgvs_p": "p.Met120Ile",
"transcript": "ENST00000394588.3",
"protein_id": "ENSP00000378089.3",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 154,
"cds_start": 360,
"cds_end": null,
"cds_length": 465,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 1017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMB",
"gene_hgnc_id": 7842,
"hgvs_c": "c.365G>A",
"hgvs_p": "p.Ter122Ter",
"transcript": "NM_021077.4",
"protein_id": "NP_066563.2",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 121,
"cds_start": 365,
"cds_end": null,
"cds_length": 366,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 655,
"mane_select": "ENST00000360476.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMB",
"gene_hgnc_id": 7842,
"hgvs_c": "c.365G>A",
"hgvs_p": "p.Ter122Ter",
"transcript": "ENST00000360476.8",
"protein_id": "ENSP00000353664.3",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 121,
"cds_start": 365,
"cds_end": null,
"cds_length": 366,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 655,
"mane_select": "NM_021077.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMB",
"gene_hgnc_id": 7842,
"hgvs_c": "c.360G>A",
"hgvs_p": "p.Met120Ile",
"transcript": "NM_205858.2",
"protein_id": "NP_995580.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 154,
"cds_start": 360,
"cds_end": null,
"cds_length": 465,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000291159",
"gene_hgnc_id": null,
"hgvs_c": "n.983-3953C>T",
"hgvs_p": null,
"transcript": "ENST00000762213.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NMB",
"gene_hgnc_id": 7842,
"dbsnp": "rs17598561",
"frequency_reference_population": 0.061150838,
"hom_count_reference_population": 3373,
"allele_count_reference_population": 98701,
"gnomad_exomes_af": 0.0606951,
"gnomad_genomes_af": 0.0655254,
"gnomad_exomes_ac": 88722,
"gnomad_genomes_ac": 9979,
"gnomad_exomes_homalt": 2964,
"gnomad_genomes_homalt": 409,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0028395652770996094,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.1657,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.935,
"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,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000360476.8",
"gene_symbol": "NMB",
"hgnc_id": 7842,
"effects": [
"stop_retained_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.365G>A",
"hgvs_p": "p.Ter122Ter"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000762213.1",
"gene_symbol": "ENSG00000291159",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.983-3953C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}