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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: 18-11881007-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=11881007&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 11881007,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000334049.11",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Gly417Ser",
"transcript": "NM_182978.4",
"protein_id": "NP_892023.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 458,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 6227,
"mane_select": "ENST00000334049.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Gly417Ser",
"transcript": "ENST00000334049.11",
"protein_id": "ENSP00000334051.5",
"transcript_support_level": 1,
"aa_start": 417,
"aa_end": null,
"aa_length": 458,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 6227,
"mane_select": "NM_182978.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Gly340Ser",
"transcript": "NM_001369387.1",
"protein_id": "NP_001356316.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 6045,
"mane_select": null,
"mane_plus": "ENST00000423027.8",
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Gly340Ser",
"transcript": "ENST00000423027.8",
"protein_id": "ENSP00000408489.2",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 6045,
"mane_select": null,
"mane_plus": "NM_001369387.1",
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Gly340Ser",
"transcript": "ENST00000535121.5",
"protein_id": "ENSP00000439023.1",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 1285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Gly340Ser",
"transcript": "NM_001142339.3",
"protein_id": "NP_001135811.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 5912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Gly340Ser",
"transcript": "NM_001261443.2",
"protein_id": "NP_001248372.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Gly340Ser",
"transcript": "ENST00000269162.9",
"protein_id": "ENSP00000269162.4",
"transcript_support_level": 2,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 1722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Ser",
"transcript": "NM_001261444.2",
"protein_id": "NP_001248373.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 174,
"cds_start": 397,
"cds_end": null,
"cds_length": 525,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 5238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Ser",
"transcript": "ENST00000602628.1",
"protein_id": "ENSP00000473600.1",
"transcript_support_level": 2,
"aa_start": 133,
"aa_end": null,
"aa_length": 174,
"cds_start": 397,
"cds_end": null,
"cds_length": 525,
"cdna_start": 873,
"cdna_end": null,
"cdna_length": 1038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"dbsnp": "rs142792291",
"frequency_reference_population": 0.000077451754,
"hom_count_reference_population": 0,
"allele_count_reference_population": 125,
"gnomad_exomes_af": 0.0000800403,
"gnomad_genomes_af": 0.0000525818,
"gnomad_exomes_ac": 117,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7568238973617554,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.542,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1251,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.68,
"phylop100way_prediction": "Pathogenic",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS1_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000334049.11",
"gene_symbol": "GNAL",
"hgnc_id": 4388,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1249G>A",
"hgvs_p": "p.Gly417Ser"
}
],
"clinvar_disease": "Dystonic disorder,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Dystonic disorder|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}