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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: 17-82083311-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82083311&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FASN",
"hgnc_id": 3594,
"hgvs_c": "c.5456G>A",
"hgvs_p": "p.Arg1819Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_004104.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 262,
"alphamissense_prediction": null,
"alphamissense_score": 0.0839,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Epileptic encephalopathy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.051199883222579956,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2511,
"aa_ref": "R",
"aa_start": 1819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8464,
"cdna_start": 5579,
"cds_end": null,
"cds_length": 7536,
"cds_start": 5456,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_004104.5",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.5456G>A",
"hgvs_p": "p.Arg1819Gln",
"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": "Q",
"aa_end": null,
"aa_length": 2511,
"aa_ref": "R",
"aa_start": 1819,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8464,
"cdna_start": 5579,
"cds_end": null,
"cds_length": 7536,
"cds_start": 5456,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000306749.4",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.5456G>A",
"hgvs_p": "p.Arg1819Gln",
"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": "Q",
"aa_end": null,
"aa_length": 2520,
"aa_ref": "R",
"aa_start": 1828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8488,
"cdna_start": 5603,
"cds_end": null,
"cds_length": 7563,
"cds_start": 5483,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000940344.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.5483G>A",
"hgvs_p": "p.Arg1828Gln",
"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": "Q",
"aa_end": null,
"aa_length": 2519,
"aa_ref": "R",
"aa_start": 1827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8367,
"cdna_start": 5602,
"cds_end": null,
"cds_length": 7560,
"cds_start": 5480,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000940346.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.5480G>A",
"hgvs_p": "p.Arg1827Gln",
"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": "Q",
"aa_end": null,
"aa_length": 2509,
"aa_ref": "R",
"aa_start": 1817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8407,
"cdna_start": 5524,
"cds_end": null,
"cds_length": 7530,
"cds_start": 5450,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000634990.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.5450G>A",
"hgvs_p": "p.Arg1817Gln",
"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": "Q",
"aa_end": null,
"aa_length": 2509,
"aa_ref": "R",
"aa_start": 1817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8457,
"cdna_start": 5572,
"cds_end": null,
"cds_length": 7530,
"cds_start": 5450,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000940341.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.5450G>A",
"hgvs_p": "p.Arg1817Gln",
"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": "Q",
"aa_end": null,
"aa_length": 2507,
"aa_ref": "R",
"aa_start": 1815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8451,
"cdna_start": 5566,
"cds_end": null,
"cds_length": 7524,
"cds_start": 5444,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000940342.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.5444G>A",
"hgvs_p": "p.Arg1815Gln",
"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": "Q",
"aa_end": null,
"aa_length": 2491,
"aa_ref": "R",
"aa_start": 1799,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8403,
"cdna_start": 5518,
"cds_end": null,
"cds_length": 7476,
"cds_start": 5396,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000940343.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.5396G>A",
"hgvs_p": "p.Arg1799Gln",
"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": "Q",
"aa_end": null,
"aa_length": 2448,
"aa_ref": "R",
"aa_start": 1819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8272,
"cdna_start": 5576,
"cds_end": null,
"cds_length": 7347,
"cds_start": 5456,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000940345.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.5456G>A",
"hgvs_p": "p.Arg1819Gln",
"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": "Q",
"aa_end": null,
"aa_length": 2511,
"aa_ref": "R",
"aa_start": 1819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8459,
"cdna_start": 5574,
"cds_end": null,
"cds_length": 7536,
"cds_start": 5456,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_011523538.3",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.5456G>A",
"hgvs_p": "p.Arg1819Gln",
"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": "rs200377258",
"effect": "missense_variant",
"frequency_reference_population": 0.00016247155,
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"gnomad_exomes_ac": 248,
"gnomad_exomes_af": 0.000169817,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 14,
"gnomad_genomes_af": 0.0000919866,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Epileptic encephalopathy",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.231,
"pos": 82083311,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.032,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.05000000074505806,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.05,
"transcript": "NM_004104.5"
}
]
}