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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: 9-83679990-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=83679990&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 83679990,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_013438.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Thr166Ala",
"transcript": "NM_013438.5",
"protein_id": "NP_038466.2",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 589,
"cds_start": 496,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 3868,
"mane_select": "ENST00000376395.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013438.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Thr166Ala",
"transcript": "ENST00000376395.9",
"protein_id": "ENSP00000365576.4",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 589,
"cds_start": 496,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 3868,
"mane_select": "NM_013438.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376395.9"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Thr166Ala",
"transcript": "ENST00000257468.11",
"protein_id": "ENSP00000257468.7",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 561,
"cds_start": 496,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 2299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257468.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "n.214A>G",
"hgvs_p": null,
"transcript": "ENST00000533705.5",
"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": 6055,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000533705.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Thr166Ala",
"transcript": "ENST00000858201.1",
"protein_id": "ENSP00000528260.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 589,
"cds_start": 496,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 4551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858201.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Thr166Ala",
"transcript": "ENST00000858204.1",
"protein_id": "ENSP00000528262.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 587,
"cds_start": 496,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 3893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858204.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Thr166Ala",
"transcript": "ENST00000858205.1",
"protein_id": "ENSP00000528263.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 587,
"cds_start": 496,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 3890,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858205.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Thr166Ala",
"transcript": "ENST00000858216.1",
"protein_id": "ENSP00000528275.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 582,
"cds_start": 496,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 2950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858216.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Thr166Ala",
"transcript": "NM_053067.3",
"protein_id": "NP_444295.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 561,
"cds_start": 496,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 3784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053067.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Thr166Ala",
"transcript": "ENST00000949306.1",
"protein_id": "ENSP00000619365.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 561,
"cds_start": 496,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949306.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Thr166Ala",
"transcript": "ENST00000858221.1",
"protein_id": "ENSP00000528280.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 559,
"cds_start": 496,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 2664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858221.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Thr166Ala",
"transcript": "ENST00000949309.1",
"protein_id": "ENSP00000619368.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 559,
"cds_start": 496,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 2357,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949309.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Thr166Ala",
"transcript": "ENST00000858227.1",
"protein_id": "ENSP00000528286.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 554,
"cds_start": 496,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858227.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Thr166Ala",
"transcript": "ENST00000949310.1",
"protein_id": "ENSP00000619369.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 536,
"cds_start": 496,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 2268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949310.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Thr166Ala",
"transcript": "ENST00000949308.1",
"protein_id": "ENSP00000619367.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 456,
"cds_start": 496,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 513,
"cdna_end": null,
"cdna_length": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949308.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Thr166Ala",
"transcript": "XM_005251948.4",
"protein_id": "XP_005252005.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 449,
"cds_start": 496,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251948.4"
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.448+2961A>G",
"hgvs_p": null,
"transcript": "ENST00000858207.1",
"protein_id": "ENSP00000528271.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": null,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858207.1"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.181-2029A>G",
"hgvs_p": null,
"transcript": "ENST00000858206.1",
"protein_id": "ENSP00000528265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 359,
"cds_start": null,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858206.1"
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.448+2961A>G",
"hgvs_p": null,
"transcript": "ENST00000858202.1",
"protein_id": "ENSP00000528261.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
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"cdna_length": 3162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858202.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.181-2029A>G",
"hgvs_p": null,
"transcript": "ENST00000949307.1",
"protein_id": "ENSP00000619366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 331,
"cds_start": null,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2189,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949307.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.181-14845A>G",
"hgvs_p": null,
"transcript": "ENST00000858214.1",
"protein_id": "ENSP00000528273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 205,
"cds_start": null,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858214.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"hgvs_c": "c.103-1391A>G",
"hgvs_p": null,
"transcript": "ENST00000529923.1",
"protein_id": "ENSP00000434194.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529923.1"
}
],
"gene_symbol": "UBQLN1",
"gene_hgnc_id": 12508,
"dbsnp": "rs774798693",
"frequency_reference_population": 0.00005762096,
"hom_count_reference_population": 0,
"allele_count_reference_population": 93,
"gnomad_exomes_af": 0.0000601973,
"gnomad_genomes_af": 0.0000328653,
"gnomad_exomes_ac": 88,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0918283760547638,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.169,
"revel_prediction": "Benign",
"alphamissense_score": 0.0579,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.206,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_013438.5",
"gene_symbol": "UBQLN1",
"hgnc_id": 12508,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Thr166Ala"
}
],
"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
}