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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: 19-8083430-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=8083430&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 8083430,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000600128.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": 56,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.7088-58T>A",
"hgvs_p": null,
"transcript": "NM_032447.5",
"protein_id": "NP_115823.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2809,
"cds_start": -4,
"cds_end": null,
"cds_length": 8430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9108,
"mane_select": "ENST00000600128.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": 56,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.7088-58T>A",
"hgvs_p": null,
"transcript": "ENST00000600128.6",
"protein_id": "ENSP00000470498.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2809,
"cds_start": -4,
"cds_end": null,
"cds_length": 8430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9108,
"mane_select": "NM_032447.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": 55,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.7088-58T>A",
"hgvs_p": null,
"transcript": "ENST00000270509.6",
"protein_id": "ENSP00000270509.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2809,
"cds_start": -4,
"cds_end": null,
"cds_length": 8430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": 56,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.7088-58T>A",
"hgvs_p": null,
"transcript": "ENST00000601739.5",
"protein_id": "ENSP00000472324.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2809,
"cds_start": -4,
"cds_end": null,
"cds_length": 8430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": 56,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.7214-58T>A",
"hgvs_p": null,
"transcript": "ENST00000651877.1",
"protein_id": "ENSP00000498507.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2851,
"cds_start": -4,
"cds_end": null,
"cds_length": 8556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": 56,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.7088-58T>A",
"hgvs_p": null,
"transcript": "NM_001321431.2",
"protein_id": "NP_001308360.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2809,
"cds_start": -4,
"cds_end": null,
"cds_length": 8430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": 57,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.7214-58T>A",
"hgvs_p": null,
"transcript": "XM_017027379.2",
"protein_id": "XP_016882868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2851,
"cds_start": -4,
"cds_end": null,
"cds_length": 8556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": 56,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.7088-58T>A",
"hgvs_p": null,
"transcript": "XM_017027372.2",
"protein_id": "XP_016882861.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2809,
"cds_start": -4,
"cds_end": null,
"cds_length": 8430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": 56,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.7028-58T>A",
"hgvs_p": null,
"transcript": "XM_017027373.2",
"protein_id": "XP_016882862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2789,
"cds_start": -4,
"cds_end": null,
"cds_length": 8370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": 55,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.6992-58T>A",
"hgvs_p": null,
"transcript": "XM_017027374.3",
"protein_id": "XP_016882863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2777,
"cds_start": -4,
"cds_end": null,
"cds_length": 8334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": 55,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.6965-58T>A",
"hgvs_p": null,
"transcript": "XM_017027375.3",
"protein_id": "XP_016882864.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2768,
"cds_start": -4,
"cds_end": null,
"cds_length": 8307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": 55,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.6959-58T>A",
"hgvs_p": null,
"transcript": "XM_017027376.2",
"protein_id": "XP_016882865.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2766,
"cds_start": -4,
"cds_end": null,
"cds_length": 8301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.4505-58T>A",
"hgvs_p": null,
"transcript": "XM_017027377.3",
"protein_id": "XP_016882866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1948,
"cds_start": -4,
"cds_end": null,
"cds_length": 5847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.3446-58T>A",
"hgvs_p": null,
"transcript": "XM_017027378.3",
"protein_id": "XP_016882867.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1595,
"cds_start": -4,
"cds_end": null,
"cds_length": 4788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"dbsnp": "rs17160149",
"frequency_reference_population": 6.9156295e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.91563e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"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": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.03,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000600128.6",
"gene_symbol": "FBN3",
"hgnc_id": 18794,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.7088-58T>A",
"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
}