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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: 17-82090985-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82090985&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FASN",
"hgnc_id": 3594,
"hgvs_c": "c.1577C>T",
"hgvs_p": "p.Ala526Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_004104.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0895,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.45,
"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": "Uncertain_significance",
"computational_score_selected": 0.5723302960395813,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2511,
"aa_ref": "A",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8464,
"cdna_start": 1700,
"cds_end": null,
"cds_length": 7536,
"cds_start": 1577,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_004104.5",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.1577C>T",
"hgvs_p": "p.Ala526Val",
"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": "V",
"aa_end": null,
"aa_length": 2511,
"aa_ref": "A",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8464,
"cdna_start": 1700,
"cds_end": null,
"cds_length": 7536,
"cds_start": 1577,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000306749.4",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.1577C>T",
"hgvs_p": "p.Ala526Val",
"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": "V",
"aa_end": null,
"aa_length": 2520,
"aa_ref": "A",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8488,
"cdna_start": 1724,
"cds_end": null,
"cds_length": 7563,
"cds_start": 1604,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000940344.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.1604C>T",
"hgvs_p": "p.Ala535Val",
"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": "V",
"aa_end": null,
"aa_length": 2519,
"aa_ref": "A",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8367,
"cdna_start": 1699,
"cds_end": null,
"cds_length": 7560,
"cds_start": 1577,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000940346.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.1577C>T",
"hgvs_p": "p.Ala526Val",
"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": "V",
"aa_end": null,
"aa_length": 2509,
"aa_ref": "A",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8407,
"cdna_start": 1651,
"cds_end": null,
"cds_length": 7530,
"cds_start": 1577,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000634990.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.1577C>T",
"hgvs_p": "p.Ala526Val",
"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": "V",
"aa_end": null,
"aa_length": 2509,
"aa_ref": "A",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8457,
"cdna_start": 1699,
"cds_end": null,
"cds_length": 7530,
"cds_start": 1577,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000940341.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.1577C>T",
"hgvs_p": "p.Ala526Val",
"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": "V",
"aa_end": null,
"aa_length": 2507,
"aa_ref": "A",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8451,
"cdna_start": 1687,
"cds_end": null,
"cds_length": 7524,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000940342.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.1565C>T",
"hgvs_p": "p.Ala522Val",
"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": "V",
"aa_end": null,
"aa_length": 2491,
"aa_ref": "A",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8403,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 7476,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000940343.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.1517C>T",
"hgvs_p": "p.Ala506Val",
"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": "V",
"aa_end": null,
"aa_length": 2448,
"aa_ref": "A",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8272,
"cdna_start": 1697,
"cds_end": null,
"cds_length": 7347,
"cds_start": 1577,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000940345.1",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.1577C>T",
"hgvs_p": "p.Ala526Val",
"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": "V",
"aa_end": null,
"aa_length": 2511,
"aa_ref": "A",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8459,
"cdna_start": 1695,
"cds_end": null,
"cds_length": 7536,
"cds_start": 1577,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011523538.3",
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"hgvs_c": "c.1577C>T",
"hgvs_p": "p.Ala526Val",
"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": "rs1449518570",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 3594,
"gene_symbol": "FASN",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": "Uncertain significance",
"phenotype_combined": "Epileptic encephalopathy",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.432,
"pos": 82090985,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.21,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.15000000596046448,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.15,
"transcript": "NM_004104.5"
}
]
}