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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: 1-236482366-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236482366&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 236482366,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000334232.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDARADD",
"gene_hgnc_id": 14341,
"hgvs_c": "c.365T>G",
"hgvs_p": "p.Leu122Arg",
"transcript": "NM_145861.4",
"protein_id": "NP_665860.2",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 215,
"cds_start": 365,
"cds_end": null,
"cds_length": 648,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": "ENST00000334232.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDARADD",
"gene_hgnc_id": 14341,
"hgvs_c": "c.365T>G",
"hgvs_p": "p.Leu122Arg",
"transcript": "ENST00000334232.9",
"protein_id": "ENSP00000335076.4",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 215,
"cds_start": 365,
"cds_end": null,
"cds_length": 648,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": "NM_145861.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDARADD",
"gene_hgnc_id": 14341,
"hgvs_c": "c.335T>G",
"hgvs_p": "p.Leu112Arg",
"transcript": "ENST00000359362.6",
"protein_id": "ENSP00000352320.4",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 205,
"cds_start": 335,
"cds_end": null,
"cds_length": 618,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 3116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDARADD",
"gene_hgnc_id": 14341,
"hgvs_c": "c.335T>G",
"hgvs_p": "p.Leu112Arg",
"transcript": "NM_080738.5",
"protein_id": "NP_542776.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 205,
"cds_start": 335,
"cds_end": null,
"cds_length": 618,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 3116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDARADD",
"gene_hgnc_id": 14341,
"hgvs_c": "c.299T>G",
"hgvs_p": "p.Leu100Arg",
"transcript": "NM_001422628.1",
"protein_id": "NP_001409557.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 193,
"cds_start": 299,
"cds_end": null,
"cds_length": 582,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 3272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDARADD",
"gene_hgnc_id": 14341,
"hgvs_c": "c.299T>G",
"hgvs_p": "p.Leu100Arg",
"transcript": "ENST00000637660.1",
"protein_id": "ENSP00000490347.1",
"transcript_support_level": 5,
"aa_start": 100,
"aa_end": null,
"aa_length": 193,
"cds_start": 299,
"cds_end": null,
"cds_length": 582,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 2803,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EDARADD",
"gene_hgnc_id": 14341,
"hgvs_c": "n.236-9371T>G",
"hgvs_p": null,
"transcript": "ENST00000642595.1",
"protein_id": "ENSP00000494458.1",
"transcript_support_level": null,
"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": 670,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDARADD",
"gene_hgnc_id": 14341,
"hgvs_c": "c.*47T>G",
"hgvs_p": null,
"transcript": "ENST00000439430.5",
"protein_id": "ENSP00000405815.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": -4,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EDARADD",
"gene_hgnc_id": 14341,
"dbsnp": "rs121908116",
"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": 0.9764680862426758,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.758,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8758,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.485,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000334232.9",
"gene_symbol": "EDARADD",
"hgnc_id": 14341,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.365T>G",
"hgvs_p": "p.Leu122Arg"
}
],
"clinvar_disease": " autosomal dominant, hypohidrotic/hair/nail type, hypohidrotic/hair/tooth type,Ectodermal dysplasia 10A,Ectodermal dysplasia 11A",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}