← Back to variant description
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: 1-45345192-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=45345192&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 45345192,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007170.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"transcript": "NM_007170.3",
"protein_id": "NP_009101.2",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 571,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372086.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007170.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"transcript": "ENST00000372086.4",
"protein_id": "ENSP00000361158.3",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 571,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007170.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372086.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "c.1277G>A",
"hgvs_p": "p.Arg426His",
"transcript": "ENST00000372084.5",
"protein_id": "ENSP00000361156.1",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 542,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372084.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288208",
"gene_hgnc_id": null,
"hgvs_c": "n.540+10111G>A",
"hgvs_p": null,
"transcript": "ENST00000671898.1",
"protein_id": "ENSP00000499896.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000671898.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "c.1502G>A",
"hgvs_p": "p.Arg501His",
"transcript": "ENST00000873864.1",
"protein_id": "ENSP00000543923.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 617,
"cds_start": 1502,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873864.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "c.1502G>A",
"hgvs_p": "p.Arg501His",
"transcript": "ENST00000937754.1",
"protein_id": "ENSP00000607813.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 617,
"cds_start": 1502,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937754.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "c.1454G>A",
"hgvs_p": "p.Arg485His",
"transcript": "ENST00000937755.1",
"protein_id": "ENSP00000607814.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 601,
"cds_start": 1454,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937755.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"transcript": "ENST00000873859.1",
"protein_id": "ENSP00000543918.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 571,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873859.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"transcript": "ENST00000873860.1",
"protein_id": "ENSP00000543919.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 571,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873860.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"transcript": "ENST00000873862.1",
"protein_id": "ENSP00000543921.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 571,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873862.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"transcript": "ENST00000937752.1",
"protein_id": "ENSP00000607811.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 571,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937752.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"transcript": "ENST00000951681.1",
"protein_id": "ENSP00000621740.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 571,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951681.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His",
"transcript": "ENST00000951683.1",
"protein_id": "ENSP00000621742.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 571,
"cds_start": 1364,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951683.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "c.1328G>A",
"hgvs_p": "p.Arg443His",
"transcript": "ENST00000873863.1",
"protein_id": "ENSP00000543922.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 559,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873863.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "c.1280G>A",
"hgvs_p": "p.Arg427His",
"transcript": "ENST00000873861.1",
"protein_id": "ENSP00000543920.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 543,
"cds_start": 1280,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873861.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "c.1244G>A",
"hgvs_p": "p.Arg415His",
"transcript": "ENST00000951682.1",
"protein_id": "ENSP00000621741.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 531,
"cds_start": 1244,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951682.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "ENST00000873857.1",
"protein_id": "ENSP00000543916.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 522,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873857.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "c.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "ENST00000873858.1",
"protein_id": "ENSP00000543917.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 522,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873858.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "c.1133G>A",
"hgvs_p": "p.Arg378His",
"transcript": "ENST00000937753.1",
"protein_id": "ENSP00000607812.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 494,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937753.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377His",
"transcript": "ENST00000937751.1",
"protein_id": "ENSP00000607810.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 493,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937751.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "c.1115G>A",
"hgvs_p": "p.Arg372His",
"transcript": "NM_001320800.2",
"protein_id": "NP_001307729.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 488,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320800.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"hgvs_c": "n.1711G>A",
"hgvs_p": null,
"transcript": "ENST00000486676.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000486676.5"
}
],
"gene_symbol": "TESK2",
"gene_hgnc_id": 11732,
"dbsnp": "rs372877245",
"frequency_reference_population": 0.000023542969,
"hom_count_reference_population": 1,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000232582,
"gnomad_genomes_af": 0.0000262774,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09909898042678833,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.204,
"revel_prediction": "Benign",
"alphamissense_score": 0.0733,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.269,
"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": 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_007170.3",
"gene_symbol": "TESK2",
"hgnc_id": 11732,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Arg455His"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000671898.1",
"gene_symbol": "ENSG00000288208",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.540+10111G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}