← 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: 15-48437792-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=48437792&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 48437792,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000316623.10",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "c.6289G>A",
"hgvs_p": "p.Glu2097Lys",
"transcript": "NM_000138.5",
"protein_id": "NP_000129.3",
"transcript_support_level": null,
"aa_start": 2097,
"aa_end": null,
"aa_length": 2871,
"cds_start": 6289,
"cds_end": null,
"cds_length": 8616,
"cdna_start": 6605,
"cdna_end": null,
"cdna_length": 11609,
"mane_select": "ENST00000316623.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 66,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "c.6289G>A",
"hgvs_p": "p.Glu2097Lys",
"transcript": "ENST00000316623.10",
"protein_id": "ENSP00000325527.5",
"transcript_support_level": 1,
"aa_start": 2097,
"aa_end": null,
"aa_length": 2871,
"cds_start": 6289,
"cds_end": null,
"cds_length": 8616,
"cdna_start": 6605,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 67,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "n.6289G>A",
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "c.6289G>A",
"hgvs_p": "p.Glu2097Lys",
"transcript": "NM_001406716.1",
"protein_id": "NP_001393645.1",
"transcript_support_level": null,
"aa_start": 2097,
"aa_end": null,
"aa_length": 2871,
"cds_start": 6289,
"cds_end": null,
"cds_length": 8616,
"cdna_start": 6490,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "n.*2052G>A",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "n.409G>A",
"hgvs_p": null,
"transcript": "ENST00000560820.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "n.6289G>A",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"hgvs_c": "n.*2052G>A",
"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
}
],
"gene_symbol": "FBN1",
"gene_hgnc_id": 3603,
"dbsnp": "rs397515831",
"frequency_reference_population": 0.00000371826,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000273691,
"gnomad_genomes_af": 0.0000131444,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8780676126480103,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.719,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7856,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PP2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000316623.10",
"gene_symbol": "FBN1",
"hgnc_id": 3603,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.6289G>A",
"hgvs_p": "p.Glu2097Lys"
}
],
"clinvar_disease": " autosomal dominant, isolated,Acromicric dysplasia,Ectopia lentis 1,Familial thoracic aortic aneurysm and aortic dissection,Marfan syndrome,Stiff skin syndrome,Weill-Marchesani syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:9",
"phenotype_combined": "Familial thoracic aortic aneurysm and aortic dissection|Stiff skin syndrome|Ectopia lentis 1, isolated, autosomal dominant|Marfan syndrome|Acromicric dysplasia|not provided|Weill-Marchesani syndrome|Marfan syndrome;Familial thoracic aortic aneurysm and aortic dissection",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}