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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: 18-11824987-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=11824987&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 11824987,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000334049.11",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Glu232Lys",
"transcript": "NM_182978.4",
"protein_id": "NP_892023.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 458,
"cds_start": 694,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 6227,
"mane_select": "ENST00000334049.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Glu232Lys",
"transcript": "ENST00000334049.11",
"protein_id": "ENSP00000334051.5",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 458,
"cds_start": 694,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 6227,
"mane_select": "NM_182978.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"transcript": "NM_001369387.1",
"protein_id": "NP_001356316.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 381,
"cds_start": 463,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 6045,
"mane_select": null,
"mane_plus": "ENST00000423027.8",
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"transcript": "ENST00000423027.8",
"protein_id": "ENSP00000408489.2",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 381,
"cds_start": 463,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 6045,
"mane_select": null,
"mane_plus": "NM_001369387.1",
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"transcript": "ENST00000535121.5",
"protein_id": "ENSP00000439023.1",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 381,
"cds_start": 463,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 1285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"transcript": "NM_001142339.3",
"protein_id": "NP_001135811.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 381,
"cds_start": 463,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 5912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"transcript": "NM_001261443.2",
"protein_id": "NP_001248372.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 381,
"cds_start": 463,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Glu155Lys",
"transcript": "ENST00000269162.9",
"protein_id": "ENSP00000269162.4",
"transcript_support_level": 2,
"aa_start": 155,
"aa_end": null,
"aa_length": 381,
"cds_start": 463,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 1722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.280G>A",
"hgvs_p": "p.Glu94Lys",
"transcript": "ENST00000585642.5",
"protein_id": "ENSP00000467345.1",
"transcript_support_level": 4,
"aa_start": 94,
"aa_end": null,
"aa_length": 178,
"cds_start": 280,
"cds_end": null,
"cds_length": 538,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Glu59Lys",
"transcript": "ENST00000590228.1",
"protein_id": "ENSP00000467709.1",
"transcript_support_level": 4,
"aa_start": 59,
"aa_end": null,
"aa_length": 144,
"cds_start": 175,
"cds_end": null,
"cds_length": 435,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Glu232Lys",
"transcript": "XM_006722324.4",
"protein_id": "XP_006722387.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 240,
"cds_start": 694,
"cds_end": null,
"cds_length": 723,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"hgvs_c": "n.287G>A",
"hgvs_p": null,
"transcript": "ENST00000590972.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GNAL",
"gene_hgnc_id": 4388,
"dbsnp": "rs398122925",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9664357900619507,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.895,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.986,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.568,
"phylop100way_prediction": "Pathogenic",
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000334049.11",
"gene_symbol": "GNAL",
"hgnc_id": 4388,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Glu232Lys"
}
],
"clinvar_disease": "Dystonia 25",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Dystonia 25",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}