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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: 9-35608892-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35608892&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 35608892,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006285.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK1",
"gene_hgnc_id": 11731,
"hgvs_c": "c.1031C>G",
"hgvs_p": "p.Thr344Arg",
"transcript": "NM_006285.3",
"protein_id": "NP_006276.2",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 626,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336395.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006285.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK1",
"gene_hgnc_id": 11731,
"hgvs_c": "c.1031C>G",
"hgvs_p": "p.Thr344Arg",
"transcript": "ENST00000336395.6",
"protein_id": "ENSP00000338127.5",
"transcript_support_level": 1,
"aa_start": 344,
"aa_end": null,
"aa_length": 626,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006285.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336395.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK1",
"gene_hgnc_id": 11731,
"hgvs_c": "n.1077C>G",
"hgvs_p": null,
"transcript": "ENST00000498522.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000498522.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK1",
"gene_hgnc_id": 11731,
"hgvs_c": "c.1079C>G",
"hgvs_p": "p.Thr360Arg",
"transcript": "ENST00000970555.1",
"protein_id": "ENSP00000640614.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 642,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970555.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK1",
"gene_hgnc_id": 11731,
"hgvs_c": "c.962C>G",
"hgvs_p": "p.Thr321Arg",
"transcript": "ENST00000970553.1",
"protein_id": "ENSP00000640612.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 603,
"cds_start": 962,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970553.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK1",
"gene_hgnc_id": 11731,
"hgvs_c": "c.947C>G",
"hgvs_p": "p.Thr316Arg",
"transcript": "ENST00000970554.1",
"protein_id": "ENSP00000640613.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 598,
"cds_start": 947,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970554.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK1",
"gene_hgnc_id": 11731,
"hgvs_c": "c.551C>G",
"hgvs_p": "p.Thr184Arg",
"transcript": "NM_001318230.2",
"protein_id": "NP_001305159.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 466,
"cds_start": 551,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318230.2"
}
],
"gene_symbol": "TESK1",
"gene_hgnc_id": 11731,
"dbsnp": "rs754529433",
"frequency_reference_population": 0.0000013809561,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138096,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1856284737586975,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.169,
"revel_prediction": "Benign",
"alphamissense_score": 0.1037,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.358,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006285.3",
"gene_symbol": "TESK1",
"hgnc_id": 11731,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1031C>G",
"hgvs_p": "p.Thr344Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}