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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: 13-95560282-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=95560282&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 95560282,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006984.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.371T>C",
"hgvs_p": "p.Phe124Ser",
"transcript": "NM_006984.5",
"protein_id": "NP_008915.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 228,
"cds_start": 371,
"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": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.371T>C",
"hgvs_p": "p.Phe124Ser",
"transcript": "ENST00000299339.3",
"protein_id": "ENSP00000299339.2",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 228,
"cds_start": 371,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.461T>C",
"hgvs_p": "p.Phe154Ser",
"transcript": "ENST00000905060.1",
"protein_id": "ENSP00000575119.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 258,
"cds_start": 461,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.365T>C",
"hgvs_p": "p.Phe122Ser",
"transcript": "NM_182848.4",
"protein_id": "NP_878268.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 226,
"cds_start": 365,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.365T>C",
"hgvs_p": "p.Phe122Ser",
"transcript": "ENST00000376873.7",
"protein_id": "ENSP00000366069.2",
"transcript_support_level": 2,
"aa_start": 122,
"aa_end": null,
"aa_length": 226,
"cds_start": 365,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.308T>C",
"hgvs_p": "p.Phe103Ser",
"transcript": "NM_001160100.2",
"protein_id": "NP_001153572.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 207,
"cds_start": 308,
"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": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLDN10",
"gene_hgnc_id": 2033,
"hgvs_c": "c.125T>C",
"hgvs_p": "p.Phe42Ser",
"transcript": "ENST00000376855.1",
"protein_id": "ENSP00000366051.1",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 73,
"cds_start": 125,
"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"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.197T>C",
"hgvs_p": "p.Phe66Ser",
"transcript": "XM_047430765.1",
"protein_id": "XP_047286721.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 170,
"cds_start": 197,
"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"
}
],
"gene_symbol": "CLDN10",
"gene_hgnc_id": 2033,
"dbsnp": "rs760346005",
"frequency_reference_population": 0.000017967292,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000164179,
"gnomad_genomes_af": 0.0000328463,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8236314654350281,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.86,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8461,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.751,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006984.5",
"gene_symbol": "CLDN10",
"hgnc_id": 2033,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.371T>C",
"hgvs_p": "p.Phe124Ser"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}