← Back to variant description
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-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236482366&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EDARADD",
"hgnc_id": 14341,
"hgvs_c": "c.365T>A",
"hgvs_p": "p.Leu122Gln",
"inheritance_mode": "SD,AR,AD",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_145861.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9105,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.35,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9399676322937012,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 215,
"aa_ref": "L",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3088,
"cdna_start": 524,
"cds_end": null,
"cds_length": 648,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_145861.4",
"gene_hgnc_id": 14341,
"gene_symbol": "EDARADD",
"hgvs_c": "c.365T>A",
"hgvs_p": "p.Leu122Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000334232.9",
"protein_coding": true,
"protein_id": "NP_665860.2",
"strand": true,
"transcript": "NM_145861.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 215,
"aa_ref": "L",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3088,
"cdna_start": 524,
"cds_end": null,
"cds_length": 648,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000334232.9",
"gene_hgnc_id": 14341,
"gene_symbol": "EDARADD",
"hgvs_c": "c.365T>A",
"hgvs_p": "p.Leu122Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145861.4",
"protein_coding": true,
"protein_id": "ENSP00000335076.4",
"strand": true,
"transcript": "ENST00000334232.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 205,
"aa_ref": "L",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3116,
"cdna_start": 552,
"cds_end": null,
"cds_length": 618,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000359362.6",
"gene_hgnc_id": 14341,
"gene_symbol": "EDARADD",
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Leu112Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352320.4",
"strand": true,
"transcript": "ENST00000359362.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 205,
"aa_ref": "L",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3116,
"cdna_start": 552,
"cds_end": null,
"cds_length": 618,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_080738.5",
"gene_hgnc_id": 14341,
"gene_symbol": "EDARADD",
"hgvs_c": "c.335T>A",
"hgvs_p": "p.Leu112Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_542776.1",
"strand": true,
"transcript": "NM_080738.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 193,
"aa_ref": "L",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3272,
"cdna_start": 708,
"cds_end": null,
"cds_length": 582,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001422628.1",
"gene_hgnc_id": 14341,
"gene_symbol": "EDARADD",
"hgvs_c": "c.299T>A",
"hgvs_p": "p.Leu100Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001409557.1",
"strand": true,
"transcript": "NM_001422628.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 193,
"aa_ref": "L",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2803,
"cdna_start": 332,
"cds_end": null,
"cds_length": 582,
"cds_start": 299,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000637660.1",
"gene_hgnc_id": 14341,
"gene_symbol": "EDARADD",
"hgvs_c": "c.299T>A",
"hgvs_p": "p.Leu100Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490347.1",
"strand": true,
"transcript": "ENST00000637660.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 670,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000642595.1",
"gene_hgnc_id": 14341,
"gene_symbol": "EDARADD",
"hgvs_c": "n.236-9371T>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494458.1",
"strand": true,
"transcript": "ENST00000642595.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 83,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 658,
"cdna_start": null,
"cds_end": null,
"cds_length": 252,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000439430.5",
"gene_hgnc_id": 14341,
"gene_symbol": "EDARADD",
"hgvs_c": "c.*47T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405815.1",
"strand": true,
"transcript": "ENST00000439430.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs121908116",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 14341,
"gene_symbol": "EDARADD",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.485,
"pos": 236482366,
"ref": "T",
"revel_prediction": "Pathogenic",
"revel_score": 0.748,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_145861.4"
}
]
}