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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: 9-116698130-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=116698130&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 116698130,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000450136.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Pro130Ser",
"transcript": "NM_012210.4",
"protein_id": "NP_036342.2",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 653,
"cds_start": 388,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": "ENST00000450136.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Pro130Ser",
"transcript": "ENST00000450136.2",
"protein_id": "ENSP00000408292.1",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 653,
"cds_start": 388,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": "NM_012210.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Pro130Ser",
"transcript": "ENST00000373983.2",
"protein_id": "ENSP00000363095.1",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 653,
"cds_start": 388,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 3688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ASTN2",
"gene_hgnc_id": 17021,
"hgvs_c": "c.2806+27641G>A",
"hgvs_p": null,
"transcript": "NM_001365068.1",
"protein_id": "NP_001351997.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1339,
"cds_start": -4,
"cds_end": null,
"cds_length": 4020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6878,
"mane_select": "ENST00000313400.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ASTN2",
"gene_hgnc_id": 17021,
"hgvs_c": "c.2806+27641G>A",
"hgvs_p": null,
"transcript": "ENST00000313400.9",
"protein_id": "ENSP00000314038.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1339,
"cds_start": -4,
"cds_end": null,
"cds_length": 4020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6878,
"mane_select": "NM_001365068.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ASTN2",
"gene_hgnc_id": 17021,
"hgvs_c": "c.2653+27641G>A",
"hgvs_p": null,
"transcript": "ENST00000361209.6",
"protein_id": "ENSP00000354504.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": -4,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Pro130Ser",
"transcript": "NM_001099679.2",
"protein_id": "NP_001093149.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 653,
"cds_start": 388,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Pro130Ser",
"transcript": "NM_001379048.1",
"protein_id": "NP_001365977.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 653,
"cds_start": 388,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Pro130Ser",
"transcript": "NM_001379049.1",
"protein_id": "NP_001365978.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 653,
"cds_start": 388,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 3735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Pro130Ser",
"transcript": "NM_001379050.1",
"protein_id": "NP_001365979.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 653,
"cds_start": 388,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 3732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Pro130Ser",
"transcript": "ENST00000411410.1",
"protein_id": "ENSP00000412603.1",
"transcript_support_level": 3,
"aa_start": 130,
"aa_end": null,
"aa_length": 171,
"cds_start": 388,
"cds_end": null,
"cds_length": 518,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ASTN2",
"gene_hgnc_id": 17021,
"hgvs_c": "c.2794+27641G>A",
"hgvs_p": null,
"transcript": "NM_001365069.1",
"protein_id": "NP_001351998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1335,
"cds_start": -4,
"cds_end": null,
"cds_length": 4008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ASTN2",
"gene_hgnc_id": 17021,
"hgvs_c": "c.2653+27641G>A",
"hgvs_p": null,
"transcript": "ENST00000361477.8",
"protein_id": "ENSP00000355116.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1299,
"cds_start": -4,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ASTN2",
"gene_hgnc_id": 17021,
"hgvs_c": "c.2653+27641G>A",
"hgvs_p": null,
"transcript": "NM_014010.5",
"protein_id": "NP_054729.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1288,
"cds_start": -4,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ASTN2",
"gene_hgnc_id": 17021,
"hgvs_c": "c.1975+27641G>A",
"hgvs_p": null,
"transcript": "ENST00000373986.7",
"protein_id": "ENSP00000363098.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1062,
"cds_start": -4,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRIM32",
"gene_hgnc_id": 16380,
"dbsnp": "rs111033571",
"frequency_reference_population": 0.000003097924,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000205223,
"gnomad_genomes_af": 0.0000131444,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29191210865974426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.268,
"revel_prediction": "Benign",
"alphamissense_score": 0.0798,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.776,
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP5_Very_Strong,BP4",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 1,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong",
"BP4"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000450136.2",
"gene_symbol": "TRIM32",
"hgnc_id": 16380,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Pro130Ser"
},
{
"score": 9,
"benign_score": 1,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong",
"BP4"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000313400.9",
"gene_symbol": "ASTN2",
"hgnc_id": 17021,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2806+27641G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Bardet-Biedl syndrome,Bardet-Biedl syndrome 11,TRIM32-related disorder,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Bardet-Biedl syndrome 11|Bardet-Biedl syndrome|not provided|TRIM32-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}