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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: 11-30336665-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=30336665&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 30336665,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_152316.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL14EP",
"gene_hgnc_id": 26798,
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Gly218Glu",
"transcript": "NM_152316.3",
"protein_id": "NP_689529.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 260,
"cds_start": 653,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000282032.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152316.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL14EP",
"gene_hgnc_id": 26798,
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Gly218Glu",
"transcript": "ENST00000282032.4",
"protein_id": "ENSP00000282032.3",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 260,
"cds_start": 653,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152316.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282032.4"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL14EP",
"gene_hgnc_id": 26798,
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Gly218Glu",
"transcript": "NM_001441289.1",
"protein_id": "NP_001428218.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 260,
"cds_start": 653,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441289.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL14EP",
"gene_hgnc_id": 26798,
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Gly218Glu",
"transcript": "ENST00000530909.2",
"protein_id": "ENSP00000432224.2",
"transcript_support_level": 2,
"aa_start": 218,
"aa_end": null,
"aa_length": 260,
"cds_start": 653,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530909.2"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL14EP",
"gene_hgnc_id": 26798,
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Gly218Glu",
"transcript": "ENST00000862264.1",
"protein_id": "ENSP00000532323.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 260,
"cds_start": 653,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862264.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL14EP",
"gene_hgnc_id": 26798,
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Gly218Glu",
"transcript": "ENST00000862265.1",
"protein_id": "ENSP00000532324.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 260,
"cds_start": 653,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862265.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL14EP",
"gene_hgnc_id": 26798,
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Gly218Glu",
"transcript": "ENST00000918203.1",
"protein_id": "ENSP00000588262.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 260,
"cds_start": 653,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918203.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL14EP",
"gene_hgnc_id": 26798,
"hgvs_c": "c.596G>A",
"hgvs_p": "p.Gly199Glu",
"transcript": "ENST00000918202.1",
"protein_id": "ENSP00000588261.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 241,
"cds_start": 596,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918202.1"
}
],
"gene_symbol": "ARL14EP",
"gene_hgnc_id": 26798,
"dbsnp": "rs730882201",
"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": 0.8815411329269409,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.964,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9982,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.94,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_152316.3",
"gene_symbol": "ARL14EP",
"hgnc_id": 26798,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Gly218Glu"
}
],
"clinvar_disease": "Abnormal facial shape,Global developmental delay,Microcephaly,Truncal obesity,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:2",
"phenotype_combined": "Global developmental delay;Abnormal facial shape;Truncal obesity;Microcephaly|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}