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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: 13-95560139-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=95560139&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 95560139,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_006984.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN10",
"gene_hgnc_id": 2033,
"hgvs_c": "c.228A>C",
"hgvs_p": "p.Ile76Ile",
"transcript": "NM_006984.5",
"protein_id": "NP_008915.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 228,
"cds_start": 228,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299339.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006984.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN10",
"gene_hgnc_id": 2033,
"hgvs_c": "c.228A>C",
"hgvs_p": "p.Ile76Ile",
"transcript": "ENST00000299339.3",
"protein_id": "ENSP00000299339.2",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 228,
"cds_start": 228,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006984.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299339.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN10",
"gene_hgnc_id": 2033,
"hgvs_c": "c.318A>C",
"hgvs_p": "p.Ile106Ile",
"transcript": "ENST00000905060.1",
"protein_id": "ENSP00000575119.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 258,
"cds_start": 318,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905060.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN10",
"gene_hgnc_id": 2033,
"hgvs_c": "c.222A>C",
"hgvs_p": "p.Ile74Ile",
"transcript": "NM_182848.4",
"protein_id": "NP_878268.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 226,
"cds_start": 222,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182848.4"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN10",
"gene_hgnc_id": 2033,
"hgvs_c": "c.222A>C",
"hgvs_p": "p.Ile74Ile",
"transcript": "ENST00000376873.7",
"protein_id": "ENSP00000366069.2",
"transcript_support_level": 2,
"aa_start": 74,
"aa_end": null,
"aa_length": 226,
"cds_start": 222,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376873.7"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN10",
"gene_hgnc_id": 2033,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Ile55Ile",
"transcript": "NM_001160100.2",
"protein_id": "NP_001153572.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 207,
"cds_start": 165,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160100.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN10",
"gene_hgnc_id": 2033,
"hgvs_c": "c.54A>C",
"hgvs_p": "p.Ile18Ile",
"transcript": "XM_047430765.1",
"protein_id": "XP_047286721.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 170,
"cds_start": 54,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430765.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN10",
"gene_hgnc_id": 2033,
"hgvs_c": "c.-19A>C",
"hgvs_p": null,
"transcript": "ENST00000376855.1",
"protein_id": "ENSP00000366051.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 73,
"cds_start": null,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376855.1"
}
],
"gene_symbol": "CLDN10",
"gene_hgnc_id": 2033,
"dbsnp": "rs34449921",
"frequency_reference_population": 0.0016730538,
"hom_count_reference_population": 43,
"allele_count_reference_population": 2698,
"gnomad_exomes_af": 0.000921065,
"gnomad_genomes_af": 0.00888063,
"gnomad_exomes_ac": 1345,
"gnomad_genomes_ac": 1353,
"gnomad_exomes_homalt": 20,
"gnomad_genomes_homalt": 23,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"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": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.096,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_006984.5",
"gene_symbol": "CLDN10",
"hgnc_id": 2033,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.228A>C",
"hgvs_p": "p.Ile76Ile"
}
],
"clinvar_disease": "CLDN10-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "CLDN10-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}