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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: 17-82086408-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82086408&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 82086408,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004104.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.3578A>G",
"hgvs_p": "p.Asn1193Ser",
"transcript": "NM_004104.5",
"protein_id": "NP_004095.4",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 2511,
"cds_start": 3578,
"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": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.3578A>G",
"hgvs_p": "p.Asn1193Ser",
"transcript": "ENST00000306749.4",
"protein_id": "ENSP00000304592.2",
"transcript_support_level": 1,
"aa_start": 1193,
"aa_end": null,
"aa_length": 2511,
"cds_start": 3578,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.3605A>G",
"hgvs_p": "p.Asn1202Ser",
"transcript": "ENST00000940344.1",
"protein_id": "ENSP00000610403.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 2520,
"cds_start": 3605,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.3602A>G",
"hgvs_p": "p.Asn1201Ser",
"transcript": "ENST00000940346.1",
"protein_id": "ENSP00000610405.1",
"transcript_support_level": null,
"aa_start": 1201,
"aa_end": null,
"aa_length": 2519,
"cds_start": 3602,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.3578A>G",
"hgvs_p": "p.Asn1193Ser",
"transcript": "ENST00000634990.1",
"protein_id": "ENSP00000488964.1",
"transcript_support_level": 5,
"aa_start": 1193,
"aa_end": null,
"aa_length": 2509,
"cds_start": 3578,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.3572A>G",
"hgvs_p": "p.Asn1191Ser",
"transcript": "ENST00000940341.1",
"protein_id": "ENSP00000610400.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 2509,
"cds_start": 3572,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.3566A>G",
"hgvs_p": "p.Asn1189Ser",
"transcript": "ENST00000940342.1",
"protein_id": "ENSP00000610401.1",
"transcript_support_level": null,
"aa_start": 1189,
"aa_end": null,
"aa_length": 2507,
"cds_start": 3566,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.3518A>G",
"hgvs_p": "p.Asn1173Ser",
"transcript": "ENST00000940343.1",
"protein_id": "ENSP00000610402.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 2491,
"cds_start": 3518,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.3578A>G",
"hgvs_p": "p.Asn1193Ser",
"transcript": "ENST00000940345.1",
"protein_id": "ENSP00000610404.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 2448,
"cds_start": 3578,
"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": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FASN",
"gene_hgnc_id": 3594,
"hgvs_c": "c.3578A>G",
"hgvs_p": "p.Asn1193Ser",
"transcript": "XM_011523538.3",
"protein_id": "XP_011521840.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 2511,
"cds_start": 3578,
"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": "rs139346033",
"frequency_reference_population": 0.00011669017,
"hom_count_reference_population": 0,
"allele_count_reference_population": 188,
"gnomad_exomes_af": 0.0000712903,
"gnomad_genomes_af": 0.000551615,
"gnomad_exomes_ac": 104,
"gnomad_genomes_ac": 84,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.012196570634841919,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.082,
"revel_prediction": "Benign",
"alphamissense_score": 0.0893,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.368,
"phylop100way_prediction": "Benign",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_004104.5",
"gene_symbol": "FASN",
"hgnc_id": 3594,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3578A>G",
"hgvs_p": "p.Asn1193Ser"
}
],
"clinvar_disease": "Epileptic encephalopathy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Epileptic encephalopathy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}