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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: 17-42544187-CAAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42544187&ref=CAAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42544187,
"ref": "CAAG",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000225927.7",
"consequences": [
{
"aa_ref": "KI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGLU",
"gene_hgnc_id": 7632,
"hgvs_c": "c.2186_2188delAGA",
"hgvs_p": "p.Lys729del",
"transcript": "NM_000263.4",
"protein_id": "NP_000254.2",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 743,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 2218,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": "ENST00000225927.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KI",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGLU",
"gene_hgnc_id": 7632,
"hgvs_c": "c.2186_2188delAGA",
"hgvs_p": "p.Lys729del",
"transcript": "ENST00000225927.7",
"protein_id": "ENSP00000225927.1",
"transcript_support_level": 1,
"aa_start": 729,
"aa_end": null,
"aa_length": 743,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 2218,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": "NM_000263.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGLU",
"gene_hgnc_id": 7632,
"hgvs_c": "c.2243_2245delAGA",
"hgvs_p": "p.Lys748del",
"transcript": "XM_024450771.2",
"protein_id": "XP_024306539.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 762,
"cds_start": 2243,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 2275,
"cdna_end": null,
"cdna_length": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGLU",
"gene_hgnc_id": 7632,
"hgvs_c": "c.1577_1579delAGA",
"hgvs_p": "p.Lys526del",
"transcript": "XM_047436138.1",
"protein_id": "XP_047292094.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 540,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 2070,
"cdna_end": null,
"cdna_length": 2327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGLU",
"gene_hgnc_id": 7632,
"hgvs_c": "c.1355_1357delAGA",
"hgvs_p": "p.Lys452del",
"transcript": "XM_017024687.2",
"protein_id": "XP_016880176.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 466,
"cds_start": 1355,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KI",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGLU",
"gene_hgnc_id": 7632,
"hgvs_c": "c.1187_1189delAGA",
"hgvs_p": "p.Lys396del",
"transcript": "XM_047436139.1",
"protein_id": "XP_047292095.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 410,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000266929",
"gene_hgnc_id": null,
"hgvs_c": "n.379+5437_379+5439delAGA",
"hgvs_p": null,
"transcript": "ENST00000585572.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGLU",
"gene_hgnc_id": 7632,
"hgvs_c": "c.*1151_*1153delAAG",
"hgvs_p": null,
"transcript": "ENST00000591587.1",
"protein_id": "ENSP00000467836.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": -4,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NAGLU",
"gene_hgnc_id": 7632,
"dbsnp": "rs1216052074",
"frequency_reference_population": 0.000016119913,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000171146,
"gnomad_genomes_af": 0.00000657142,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.532,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4_Supporting,PP5",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM4_Supporting",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000225927.7",
"gene_symbol": "NAGLU",
"hgnc_id": 7632,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2186_2188delAGA",
"hgvs_p": "p.Lys729del"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000585572.1",
"gene_symbol": "ENSG00000266929",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.379+5437_379+5439delAGA",
"hgvs_p": null
}
],
"clinvar_disease": " MPS-III-B,Charcot-Marie-Tooth disease axonal type 2V,Mucopolysaccharidosis,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:2",
"phenotype_combined": "Mucopolysaccharidosis, MPS-III-B|Charcot-Marie-Tooth disease axonal type 2V;Mucopolysaccharidosis, MPS-III-B|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}