← Back to variant description
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: 14-99789586-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=99789586&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 99789586,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001375411.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.28+51726T>G",
"hgvs_p": null,
"transcript": "ENST00000554479.5",
"protein_id": "ENSP00000451346.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 378,
"cds_start": -4,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.-27+15573T>G",
"hgvs_p": null,
"transcript": "ENST00000327921.13",
"protein_id": "ENSP00000327384.9",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 803,
"cds_start": -4,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.28+51726T>G",
"hgvs_p": null,
"transcript": "NM_001375411.1",
"protein_id": "NP_001362340.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 802,
"cds_start": -4,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.28+51726T>G",
"hgvs_p": null,
"transcript": "NM_001440377.1",
"protein_id": "NP_001427306.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": -4,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.28+51726T>G",
"hgvs_p": null,
"transcript": "ENST00000555145.5",
"protein_id": "ENSP00000452160.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": -4,
"cds_end": null,
"cds_length": 469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.-20+15573T>G",
"hgvs_p": null,
"transcript": "ENST00000556199.1",
"protein_id": "ENSP00000451991.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 84,
"cds_start": -4,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"hgvs_c": "c.28+51726T>G",
"hgvs_p": null,
"transcript": "XM_005267398.3",
"protein_id": "XP_005267455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 821,
"cds_start": -4,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EML1",
"gene_hgnc_id": 3330,
"dbsnp": "rs17099050",
"frequency_reference_population": 0.11927817,
"hom_count_reference_population": 1979,
"allele_count_reference_population": 18157,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.119278,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 18157,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1979,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7400000095367432,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.007,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001375411.1",
"gene_symbol": "EML1",
"hgnc_id": 3330,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.28+51726T>G",
"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
}