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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: 17-82079158-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82079158&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FASN",
"hgnc_id": 3594,
"hgvs_c": "c.7521C>A",
"hgvs_p": "p.Ser2507Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_004104.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.6214,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.17012065649032593,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2511,
"aa_ref": "S",
"aa_start": 2507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8464,
"cdna_start": 7644,
"cds_end": null,
"cds_length": 7536,
"cds_start": 7521,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_004104.5",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.7521C>A",
"hgvs_p": "p.Ser2507Arg",
"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": "R",
"aa_end": null,
"aa_length": 2511,
"aa_ref": "S",
"aa_start": 2507,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8464,
"cdna_start": 7644,
"cds_end": null,
"cds_length": 7536,
"cds_start": 7521,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000306749.4",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.7521C>A",
"hgvs_p": "p.Ser2507Arg",
"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": "R",
"aa_end": null,
"aa_length": 2520,
"aa_ref": "S",
"aa_start": 2516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8488,
"cdna_start": 7668,
"cds_end": null,
"cds_length": 7563,
"cds_start": 7548,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000940344.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.7548C>A",
"hgvs_p": "p.Ser2516Arg",
"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": "R",
"aa_end": null,
"aa_length": 2519,
"aa_ref": "S",
"aa_start": 2515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8367,
"cdna_start": 7667,
"cds_end": null,
"cds_length": 7560,
"cds_start": 7545,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000940346.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.7545C>A",
"hgvs_p": "p.Ser2515Arg",
"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": "R",
"aa_end": null,
"aa_length": 2509,
"aa_ref": "S",
"aa_start": 2505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8407,
"cdna_start": 7589,
"cds_end": null,
"cds_length": 7530,
"cds_start": 7515,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000634990.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.7515C>A",
"hgvs_p": "p.Ser2505Arg",
"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": "R",
"aa_end": null,
"aa_length": 2509,
"aa_ref": "S",
"aa_start": 2505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8457,
"cdna_start": 7637,
"cds_end": null,
"cds_length": 7530,
"cds_start": 7515,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000940341.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.7515C>A",
"hgvs_p": "p.Ser2505Arg",
"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": "R",
"aa_end": null,
"aa_length": 2507,
"aa_ref": "S",
"aa_start": 2503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8451,
"cdna_start": 7631,
"cds_end": null,
"cds_length": 7524,
"cds_start": 7509,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000940342.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.7509C>A",
"hgvs_p": "p.Ser2503Arg",
"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": "R",
"aa_end": null,
"aa_length": 2491,
"aa_ref": "S",
"aa_start": 2487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8403,
"cdna_start": 7583,
"cds_end": null,
"cds_length": 7476,
"cds_start": 7461,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000940343.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.7461C>A",
"hgvs_p": "p.Ser2487Arg",
"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": "R",
"aa_end": null,
"aa_length": 2448,
"aa_ref": "S",
"aa_start": 2444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8272,
"cdna_start": 7452,
"cds_end": null,
"cds_length": 7347,
"cds_start": 7332,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000940345.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.7332C>A",
"hgvs_p": "p.Ser2444Arg",
"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": "R",
"aa_end": null,
"aa_length": 2511,
"aa_ref": "S",
"aa_start": 2507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8459,
"cdna_start": 7639,
"cds_end": null,
"cds_length": 7536,
"cds_start": 7521,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "XM_011523538.3",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.7521C>A",
"hgvs_p": "p.Ser2507Arg",
"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
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 951,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000578424.2",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "n.800C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000578424.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 857,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000584610.2",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "n.696C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000584610.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 26,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 100,
"cdna_start": null,
"cds_end": null,
"cds_length": 81,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000636628.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.*82C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490921.1",
"strand": true,
"transcript": "ENST00000636628.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 681,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000580382.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "n.*455C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462949.1",
"strand": true,
"transcript": "ENST00000580382.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs765784168",
"effect": "missense_variant",
"frequency_reference_population": 6.8498684e-7,
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84987e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.578,
"pos": 82079158,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.109,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004104.5"
}
]
}