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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: 2-112913015-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=112913015&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 112913015,
"ref": "G",
"alt": "A",
"effect": "start_lost",
"transcript": "NM_014439.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "NM_014439.4",
"protein_id": "NP_055254.2",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 218,
"cds_start": 3,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263326.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014439.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000263326.8",
"protein_id": "ENSP00000263326.3",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 218,
"cds_start": 3,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014439.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263326.8"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000352179.7",
"protein_id": "ENSP00000263327.3",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 197,
"cds_start": 3,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352179.7"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000353225.7",
"protein_id": "ENSP00000309208.3",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 178,
"cds_start": 3,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353225.7"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000349806.7",
"protein_id": "ENSP00000263328.3",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 157,
"cds_start": 3,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349806.7"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000885704.1",
"protein_id": "ENSP00000555763.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 218,
"cds_start": 3,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885704.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "NM_173202.2",
"protein_id": "NP_775294.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 197,
"cds_start": 3,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173202.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "NM_173204.2",
"protein_id": "NP_775296.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 178,
"cds_start": 3,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173204.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?",
"transcript": "NM_173203.2",
"protein_id": "NP_775295.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 157,
"cds_start": 3,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173203.2"
}
],
"gene_symbol": "IL37",
"gene_hgnc_id": 15563,
"dbsnp": "rs776169140",
"frequency_reference_population": 0.000020264066,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000175197,
"gnomad_genomes_af": 0.0000459957,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9669538736343384,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.283,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.566,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Supporting,PM2",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PVS1_Supporting",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014439.4",
"gene_symbol": "IL37",
"hgnc_id": 15563,
"effects": [
"start_lost"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.3G>A",
"hgvs_p": "p.Met1?"
}
],
"clinvar_disease": " autosomal recessive,Inflammatory bowel disease (infantile ulcerative colitis) 31",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}