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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: 17-82088005-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82088005&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FASN",
"hgnc_id": 3594,
"hgvs_c": "c.2815G>A",
"hgvs_p": "p.Glu939Lys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_004104.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_score": -16,
"allele_count_reference_population": 7650,
"alphamissense_prediction": null,
"alphamissense_score": 0.1203,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "17",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Epileptic encephalopathy,FASN-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0071086883544921875,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2511,
"aa_ref": "E",
"aa_start": 939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8464,
"cdna_start": 2938,
"cds_end": null,
"cds_length": 7536,
"cds_start": 2815,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_004104.5",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.2815G>A",
"hgvs_p": "p.Glu939Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000306749.4",
"protein_coding": true,
"protein_id": "NP_004095.4",
"strand": false,
"transcript": "NM_004104.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2511,
"aa_ref": "E",
"aa_start": 939,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8464,
"cdna_start": 2938,
"cds_end": null,
"cds_length": 7536,
"cds_start": 2815,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000306749.4",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.2815G>A",
"hgvs_p": "p.Glu939Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004104.5",
"protein_coding": true,
"protein_id": "ENSP00000304592.2",
"strand": false,
"transcript": "ENST00000306749.4",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2520,
"aa_ref": "E",
"aa_start": 948,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8488,
"cdna_start": 2962,
"cds_end": null,
"cds_length": 7563,
"cds_start": 2842,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000940344.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.2842G>A",
"hgvs_p": "p.Glu948Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610403.1",
"strand": false,
"transcript": "ENST00000940344.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2519,
"aa_ref": "E",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8367,
"cdna_start": 2961,
"cds_end": null,
"cds_length": 7560,
"cds_start": 2839,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000940346.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.2839G>A",
"hgvs_p": "p.Glu947Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610405.1",
"strand": false,
"transcript": "ENST00000940346.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2509,
"aa_ref": "E",
"aa_start": 939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8407,
"cdna_start": 2889,
"cds_end": null,
"cds_length": 7530,
"cds_start": 2815,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000634990.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.2815G>A",
"hgvs_p": "p.Glu939Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000488964.1",
"strand": false,
"transcript": "ENST00000634990.1",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2509,
"aa_ref": "E",
"aa_start": 937,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8457,
"cdna_start": 2931,
"cds_end": null,
"cds_length": 7530,
"cds_start": 2809,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000940341.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.2809G>A",
"hgvs_p": "p.Glu937Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610400.1",
"strand": false,
"transcript": "ENST00000940341.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2507,
"aa_ref": "E",
"aa_start": 935,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8451,
"cdna_start": 2925,
"cds_end": null,
"cds_length": 7524,
"cds_start": 2803,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000940342.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.2803G>A",
"hgvs_p": "p.Glu935Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610401.1",
"strand": false,
"transcript": "ENST00000940342.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2491,
"aa_ref": "E",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8403,
"cdna_start": 2877,
"cds_end": null,
"cds_length": 7476,
"cds_start": 2755,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000940343.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.2755G>A",
"hgvs_p": "p.Glu919Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610402.1",
"strand": false,
"transcript": "ENST00000940343.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2448,
"aa_ref": "E",
"aa_start": 939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8272,
"cdna_start": 2935,
"cds_end": null,
"cds_length": 7347,
"cds_start": 2815,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000940345.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.2815G>A",
"hgvs_p": "p.Glu939Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610404.1",
"strand": false,
"transcript": "ENST00000940345.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2511,
"aa_ref": "E",
"aa_start": 939,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8459,
"cdna_start": 2933,
"cds_end": null,
"cds_length": 7536,
"cds_start": 2815,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_011523538.3",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.2815G>A",
"hgvs_p": "p.Glu939Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521840.1",
"strand": false,
"transcript": "XM_011523538.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs142371324",
"effect": "missense_variant",
"frequency_reference_population": 0.004743427,
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"gnomad_exomes_ac": 6819,
"gnomad_exomes_af": 0.00466904,
"gnomad_exomes_homalt": 45,
"gnomad_genomes_ac": 831,
"gnomad_genomes_af": 0.00545684,
"gnomad_genomes_homalt": 8,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 53,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "not provided|Epileptic encephalopathy|FASN-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.672,
"pos": 82088005,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.054,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.029999999329447746,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.03,
"transcript": "NM_004104.5"
}
]
}