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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: 15-48465789-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=48465789&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 48465789,
"ref": "C",
"alt": "G",
"effect": "splice_donor_variant,intron_variant",
"transcript": "NM_000138.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "c.4816+1G>C",
"hgvs_p": null,
"transcript": "NM_000138.5",
"protein_id": "NP_000129.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2871,
"cds_start": -4,
"cds_end": null,
"cds_length": 8616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11609,
"mane_select": "ENST00000316623.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "c.4816+1G>C",
"hgvs_p": null,
"transcript": "ENST00000316623.10",
"protein_id": "ENSP00000325527.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2871,
"cds_start": -4,
"cds_end": null,
"cds_length": 8616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11609,
"mane_select": "NM_000138.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "n.4816+1G>C",
"hgvs_p": null,
"transcript": "ENST00000559133.6",
"protein_id": "ENSP00000453958.2",
"transcript_support_level": 1,
"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": 9910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "c.4816+1G>C",
"hgvs_p": null,
"transcript": "NM_001406716.1",
"protein_id": "NP_001393645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2871,
"cds_start": -4,
"cds_end": null,
"cds_length": 8616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "n.*579+1G>C",
"hgvs_p": null,
"transcript": "ENST00000537463.6",
"protein_id": "ENSP00000440294.2",
"transcript_support_level": 5,
"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": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": 39,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "n.4816+1G>C",
"hgvs_p": null,
"transcript": "ENST00000674301.2",
"protein_id": "ENSP00000501333.2",
"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": 8995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "n.3490+1G>C",
"hgvs_p": null,
"transcript": "ENST00000684448.1",
"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": 5150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"dbsnp": "rs1555397014",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33000001311302185,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9459999799728394,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.98,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999989072007339,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Moderate,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000138.5",
"gene_symbol": "FBN1",
"hgnc_id": 3603,
"effects": [
"splice_donor_variant",
"intron_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.4816+1G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Familial thoracic aortic aneurysm and aortic dissection,Marfan syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Familial thoracic aortic aneurysm and aortic dissection;Marfan syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}