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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: 16-68685288-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=68685288&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 68685288,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000264012.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Arg503His",
"transcript": "NM_001793.6",
"protein_id": "NP_001784.2",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 829,
"cds_start": 1508,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": "ENST00000264012.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Arg503His",
"transcript": "ENST00000264012.9",
"protein_id": "ENSP00000264012.4",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 829,
"cds_start": 1508,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": "NM_001793.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Arg503His",
"transcript": "ENST00000429102.6",
"protein_id": "ENSP00000398485.2",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 784,
"cds_start": 1508,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 3611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Arg503His",
"transcript": "NM_001317195.3",
"protein_id": "NP_001304124.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 784,
"cds_start": 1508,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "c.1343G>A",
"hgvs_p": "p.Arg448His",
"transcript": "NM_001317196.2",
"protein_id": "NP_001304125.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 774,
"cds_start": 1343,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 4337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Arg503His",
"transcript": "XM_011522800.4",
"protein_id": "XP_011521102.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 808,
"cds_start": 1508,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Arg503His",
"transcript": "XM_047433450.1",
"protein_id": "XP_047289406.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 808,
"cds_start": 1508,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 4245,
"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": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "n.*1246G>A",
"hgvs_p": null,
"transcript": "ENST00000542274.5",
"protein_id": "ENSP00000464021.1",
"transcript_support_level": 2,
"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": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"hgvs_c": "n.*1246G>A",
"hgvs_p": null,
"transcript": "ENST00000542274.5",
"protein_id": "ENSP00000464021.1",
"transcript_support_level": 2,
"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": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDH3",
"gene_hgnc_id": 1762,
"dbsnp": "rs121434542",
"frequency_reference_population": 0.00000557625,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000478861,
"gnomad_genomes_af": 0.0000131418,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8179945945739746,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.624,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2673,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.487,
"phylop100way_prediction": "Uncertain_significance",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM2",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000264012.9",
"gene_symbol": "CDH3",
"hgnc_id": 1762,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1508G>A",
"hgvs_p": "p.Arg503His"
}
],
"clinvar_disease": "Congenital hypotrichosis with juvenile macular dystrophy,Retinal dystrophy,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "not provided|Congenital hypotrichosis with juvenile macular dystrophy|Retinal dystrophy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}