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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: 1-236409175-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236409175&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 236409175,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_145861.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EDARADD",
"gene_hgnc_id": 14341,
"hgvs_c": "c.62-41A>G",
"hgvs_p": null,
"transcript": "NM_145861.4",
"protein_id": "NP_665860.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": -4,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": "ENST00000334232.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EDARADD",
"gene_hgnc_id": 14341,
"hgvs_c": "c.62-41A>G",
"hgvs_p": null,
"transcript": "ENST00000334232.9",
"protein_id": "ENSP00000335076.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": -4,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": "NM_145861.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EDARADD",
"gene_hgnc_id": 14341,
"hgvs_c": "c.32-41A>G",
"hgvs_p": null,
"transcript": "ENST00000359362.6",
"protein_id": "ENSP00000352320.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 205,
"cds_start": -4,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EDARADD",
"gene_hgnc_id": 14341,
"hgvs_c": "c.32-41A>G",
"hgvs_p": null,
"transcript": "NM_080738.5",
"protein_id": "NP_542776.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 205,
"cds_start": -4,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EDARADD",
"gene_hgnc_id": 14341,
"hgvs_c": "c.-5-41A>G",
"hgvs_p": null,
"transcript": "NM_001422628.1",
"protein_id": "NP_001409557.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": -4,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EDARADD",
"gene_hgnc_id": 14341,
"hgvs_c": "c.-5-41A>G",
"hgvs_p": null,
"transcript": "ENST00000637660.1",
"protein_id": "ENSP00000490347.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": -4,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EDARADD",
"gene_hgnc_id": 14341,
"hgvs_c": "c.-5-41A>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
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "EDARADD",
"gene_hgnc_id": 14341,
"hgvs_c": "n.32-41A>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
}
],
"gene_symbol": "EDARADD",
"gene_hgnc_id": 14341,
"dbsnp": "rs669710",
"frequency_reference_population": 0.5661992,
"hom_count_reference_population": 252163,
"allele_count_reference_population": 870033,
"gnomad_exomes_af": 0.569802,
"gnomad_genomes_af": 0.533355,
"gnomad_exomes_ac": 789027,
"gnomad_genomes_ac": 81006,
"gnomad_exomes_homalt": 230087,
"gnomad_genomes_homalt": 22076,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.278,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_145861.4",
"gene_symbol": "EDARADD",
"hgnc_id": 14341,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.62-41A>G",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal dominant, autosomal recessive, hypohidrotic/hair/tooth type,Ectodermal dysplasia 11A,Ectodermal dysplasia 11B,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant|Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}