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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: X-70035393-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=70035393&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 70035393,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000374552.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.960T>C",
"hgvs_p": "p.Tyr320Tyr",
"transcript": "NM_001399.5",
"protein_id": "NP_001390.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 391,
"cds_start": 960,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 5235,
"mane_select": "ENST00000374552.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.960T>C",
"hgvs_p": "p.Tyr320Tyr",
"transcript": "ENST00000374552.9",
"protein_id": "ENSP00000363680.4",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 391,
"cds_start": 960,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 5235,
"mane_select": "NM_001399.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.954T>C",
"hgvs_p": "p.Tyr318Tyr",
"transcript": "ENST00000374553.6",
"protein_id": "ENSP00000363681.2",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 389,
"cds_start": 954,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 5272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.945T>C",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "ENST00000524573.5",
"protein_id": "ENSP00000432585.1",
"transcript_support_level": 1,
"aa_start": 315,
"aa_end": null,
"aa_length": 386,
"cds_start": 945,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.954T>C",
"hgvs_p": "p.Tyr318Tyr",
"transcript": "NM_001005609.2",
"protein_id": "NP_001005609.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 389,
"cds_start": 954,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 5229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.951T>C",
"hgvs_p": "p.Tyr317Tyr",
"transcript": "NM_001440761.1",
"protein_id": "NP_001427690.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 388,
"cds_start": 951,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1147,
"cdna_end": null,
"cdna_length": 5226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.945T>C",
"hgvs_p": "p.Tyr315Tyr",
"transcript": "NM_001005612.3",
"protein_id": "NP_001005612.2",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 386,
"cds_start": 945,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 5220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.918T>C",
"hgvs_p": "p.Tyr306Tyr",
"transcript": "NM_001440762.1",
"protein_id": "NP_001427691.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 377,
"cds_start": 918,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 5193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"hgvs_c": "c.564T>C",
"hgvs_p": "p.Tyr188Tyr",
"transcript": "ENST00000616899.1",
"protein_id": "ENSP00000481963.1",
"transcript_support_level": 5,
"aa_start": 188,
"aa_end": null,
"aa_length": 259,
"cds_start": 564,
"cds_end": null,
"cds_length": 780,
"cdna_start": 567,
"cdna_end": null,
"cdna_length": 4643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EDA",
"gene_hgnc_id": 3157,
"dbsnp": "rs876657687",
"frequency_reference_population": 0.0000033144686,
"hom_count_reference_population": 3,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273541,
"gnomad_genomes_af": 0.0000090824,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6100000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.527,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000374552.9",
"gene_symbol": "EDA",
"hgnc_id": 3157,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.960T>C",
"hgvs_p": "p.Tyr320Tyr"
}
],
"clinvar_disease": "Hypohidrotic X-linked ectodermal dysplasia",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Hypohidrotic X-linked ectodermal dysplasia",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}