← 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: 1-159304153-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=159304153&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 159304153,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000693622.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCER1A",
"gene_hgnc_id": 3609,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Ser101Asn",
"transcript": "NM_001387280.1",
"protein_id": "NP_001374209.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 257,
"cds_start": 302,
"cds_end": null,
"cds_length": 774,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 1073,
"mane_select": "ENST00000693622.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCER1A",
"gene_hgnc_id": 3609,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Ser101Asn",
"transcript": "ENST00000693622.1",
"protein_id": "ENSP00000509626.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 257,
"cds_start": 302,
"cds_end": null,
"cds_length": 774,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 1073,
"mane_select": "NM_001387280.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCER1A",
"gene_hgnc_id": 3609,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Ser101Asn",
"transcript": "ENST00000368115.5",
"protein_id": "ENSP00000357097.1",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 257,
"cds_start": 302,
"cds_end": null,
"cds_length": 774,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCER1A",
"gene_hgnc_id": 3609,
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Ser101Asn",
"transcript": "NM_002001.4",
"protein_id": "NP_001992.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 257,
"cds_start": 302,
"cds_end": null,
"cds_length": 774,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCER1A",
"gene_hgnc_id": 3609,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Ser68Asn",
"transcript": "NM_001387282.1",
"protein_id": "NP_001374211.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 224,
"cds_start": 203,
"cds_end": null,
"cds_length": 675,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCER1A",
"gene_hgnc_id": 3609,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Ser68Asn",
"transcript": "ENST00000368114.1",
"protein_id": "ENSP00000357096.1",
"transcript_support_level": 3,
"aa_start": 68,
"aa_end": null,
"aa_length": 224,
"cds_start": 203,
"cds_end": null,
"cds_length": 675,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FCER1A",
"gene_hgnc_id": 3609,
"hgvs_c": "c.76+1279G>A",
"hgvs_p": null,
"transcript": "NM_001387281.1",
"protein_id": "NP_001374210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": -4,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FCER1A",
"gene_hgnc_id": 3609,
"dbsnp": "rs2298805",
"frequency_reference_population": 0.0034054324,
"hom_count_reference_population": 189,
"allele_count_reference_population": 5496,
"gnomad_exomes_af": 0.00338265,
"gnomad_genomes_af": 0.003624,
"gnomad_exomes_ac": 4944,
"gnomad_genomes_ac": 552,
"gnomad_exomes_homalt": 170,
"gnomad_genomes_homalt": 19,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0032084882259368896,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
"alphamissense_score": 0.6938,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.577,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000693622.1",
"gene_symbol": "FCER1A",
"hgnc_id": 3609,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.302G>A",
"hgvs_p": "p.Ser101Asn"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}