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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: 17-82085141-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82085141&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 82085141,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004104.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.4303G>A",
"hgvs_p": "p.Glu1435Lys",
"transcript": "NM_004104.5",
"protein_id": "NP_004095.4",
"transcript_support_level": null,
"aa_start": 1435,
"aa_end": null,
"aa_length": 2511,
"cds_start": 4303,
"cds_end": null,
"cds_length": 7536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306749.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004104.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.4303G>A",
"hgvs_p": "p.Glu1435Lys",
"transcript": "ENST00000306749.4",
"protein_id": "ENSP00000304592.2",
"transcript_support_level": 1,
"aa_start": 1435,
"aa_end": null,
"aa_length": 2511,
"cds_start": 4303,
"cds_end": null,
"cds_length": 7536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004104.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306749.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.4330G>A",
"hgvs_p": "p.Glu1444Lys",
"transcript": "ENST00000940344.1",
"protein_id": "ENSP00000610403.1",
"transcript_support_level": null,
"aa_start": 1444,
"aa_end": null,
"aa_length": 2520,
"cds_start": 4330,
"cds_end": null,
"cds_length": 7563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940344.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.4327G>A",
"hgvs_p": "p.Glu1443Lys",
"transcript": "ENST00000940346.1",
"protein_id": "ENSP00000610405.1",
"transcript_support_level": null,
"aa_start": 1443,
"aa_end": null,
"aa_length": 2519,
"cds_start": 4327,
"cds_end": null,
"cds_length": 7560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940346.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.4297G>A",
"hgvs_p": "p.Glu1433Lys",
"transcript": "ENST00000634990.1",
"protein_id": "ENSP00000488964.1",
"transcript_support_level": 5,
"aa_start": 1433,
"aa_end": null,
"aa_length": 2509,
"cds_start": 4297,
"cds_end": null,
"cds_length": 7530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634990.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.4297G>A",
"hgvs_p": "p.Glu1433Lys",
"transcript": "ENST00000940341.1",
"protein_id": "ENSP00000610400.1",
"transcript_support_level": null,
"aa_start": 1433,
"aa_end": null,
"aa_length": 2509,
"cds_start": 4297,
"cds_end": null,
"cds_length": 7530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940341.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.4291G>A",
"hgvs_p": "p.Glu1431Lys",
"transcript": "ENST00000940342.1",
"protein_id": "ENSP00000610401.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 2507,
"cds_start": 4291,
"cds_end": null,
"cds_length": 7524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940342.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.4243G>A",
"hgvs_p": "p.Glu1415Lys",
"transcript": "ENST00000940343.1",
"protein_id": "ENSP00000610402.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 2491,
"cds_start": 4243,
"cds_end": null,
"cds_length": 7476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940343.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.4303G>A",
"hgvs_p": "p.Glu1435Lys",
"transcript": "ENST00000940345.1",
"protein_id": "ENSP00000610404.1",
"transcript_support_level": null,
"aa_start": 1435,
"aa_end": null,
"aa_length": 2448,
"cds_start": 4303,
"cds_end": null,
"cds_length": 7347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940345.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.4303G>A",
"hgvs_p": "p.Glu1435Lys",
"transcript": "XM_011523538.3",
"protein_id": "XP_011521840.1",
"transcript_support_level": null,
"aa_start": 1435,
"aa_end": null,
"aa_length": 2511,
"cds_start": 4303,
"cds_end": null,
"cds_length": 7536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523538.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "n.*17G>A",
"hgvs_p": null,
"transcript": "ENST00000579410.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000579410.1"
}
],
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"dbsnp": "rs756527893",
"frequency_reference_population": 0.000021086553,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000225977,
"gnomad_genomes_af": 0.00000657557,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05055427551269531,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1899999976158142,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.017,
"revel_prediction": "Benign",
"alphamissense_score": 0.0704,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.8,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.19,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_004104.5",
"gene_symbol": "FASN",
"hgnc_id": 3594,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4303G>A",
"hgvs_p": "p.Glu1435Lys"
}
],
"clinvar_disease": "Epileptic encephalopathy,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Epileptic encephalopathy|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}