← Back to variant description
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: 17-82084841-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82084841&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 82084841,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004104.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "NM_004104.5",
"protein_id": "NP_004095.4",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 2511,
"cds_start": 4522,
"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": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "ENST00000306749.4",
"protein_id": "ENSP00000304592.2",
"transcript_support_level": 1,
"aa_start": 1508,
"aa_end": null,
"aa_length": 2511,
"cds_start": 4522,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.4549G>A",
"hgvs_p": "p.Asp1517Asn",
"transcript": "ENST00000940344.1",
"protein_id": "ENSP00000610403.1",
"transcript_support_level": null,
"aa_start": 1517,
"aa_end": null,
"aa_length": 2520,
"cds_start": 4549,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.4546G>A",
"hgvs_p": "p.Asp1516Asn",
"transcript": "ENST00000940346.1",
"protein_id": "ENSP00000610405.1",
"transcript_support_level": null,
"aa_start": 1516,
"aa_end": null,
"aa_length": 2519,
"cds_start": 4546,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.4516G>A",
"hgvs_p": "p.Asp1506Asn",
"transcript": "ENST00000634990.1",
"protein_id": "ENSP00000488964.1",
"transcript_support_level": 5,
"aa_start": 1506,
"aa_end": null,
"aa_length": 2509,
"cds_start": 4516,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.4516G>A",
"hgvs_p": "p.Asp1506Asn",
"transcript": "ENST00000940341.1",
"protein_id": "ENSP00000610400.1",
"transcript_support_level": null,
"aa_start": 1506,
"aa_end": null,
"aa_length": 2509,
"cds_start": 4516,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.4510G>A",
"hgvs_p": "p.Asp1504Asn",
"transcript": "ENST00000940342.1",
"protein_id": "ENSP00000610401.1",
"transcript_support_level": null,
"aa_start": 1504,
"aa_end": null,
"aa_length": 2507,
"cds_start": 4510,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.4462G>A",
"hgvs_p": "p.Asp1488Asn",
"transcript": "ENST00000940343.1",
"protein_id": "ENSP00000610402.1",
"transcript_support_level": null,
"aa_start": 1488,
"aa_end": null,
"aa_length": 2491,
"cds_start": 4462,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "ENST00000940345.1",
"protein_id": "ENSP00000610404.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 2448,
"cds_start": 4522,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn",
"transcript": "XM_011523538.3",
"protein_id": "XP_011521840.1",
"transcript_support_level": null,
"aa_start": 1508,
"aa_end": null,
"aa_length": 2511,
"cds_start": 4522,
"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"
}
],
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"dbsnp": "rs375080347",
"frequency_reference_population": 0.000015480955,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000121596,
"gnomad_genomes_af": 0.0000459879,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.35622692108154297,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.197,
"revel_prediction": "Benign",
"alphamissense_score": 0.1821,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.133,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004104.5",
"gene_symbol": "FASN",
"hgnc_id": 3594,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4522G>A",
"hgvs_p": "p.Asp1508Asn"
}
],
"clinvar_disease": "Epileptic encephalopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Epileptic encephalopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}