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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: 11-654029-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=654029&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 654029,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000382409.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509Gln",
"transcript": "NM_021008.4",
"protein_id": "NP_066288.2",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 565,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": "ENST00000382409.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509Gln",
"transcript": "ENST00000382409.4",
"protein_id": "ENSP00000371846.3",
"transcript_support_level": 1,
"aa_start": 509,
"aa_end": null,
"aa_length": 565,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": "NM_021008.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.887G>A",
"hgvs_p": null,
"transcript": "ENST00000527170.5",
"protein_id": "ENSP00000431563.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1322G>A",
"hgvs_p": "p.Arg441Gln",
"transcript": "ENST00000685854.1",
"protein_id": "ENSP00000508801.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 599,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466Gln",
"transcript": "NM_001440884.1",
"protein_id": "NP_001427813.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 522,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1572,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Gln",
"transcript": "NM_001293634.2",
"protein_id": "NP_001280563.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 490,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1322G>A",
"hgvs_p": "p.Arg441Gln",
"transcript": "ENST00000686001.1",
"protein_id": "ENSP00000508459.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 489,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1322G>A",
"hgvs_p": "p.Arg441Gln",
"transcript": "ENST00000689835.1",
"protein_id": "ENSP00000510621.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 470,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 1778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1193G>A",
"hgvs_p": "p.Arg398Gln",
"transcript": "ENST00000690068.1",
"protein_id": "ENSP00000509089.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 454,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.800G>A",
"hgvs_p": "p.Arg267Gln",
"transcript": "NM_001367390.1",
"protein_id": "NP_001354319.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 323,
"cds_start": 800,
"cds_end": null,
"cds_length": 972,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.800G>A",
"hgvs_p": "p.Arg267Gln",
"transcript": "NM_001440885.1",
"protein_id": "NP_001427814.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 323,
"cds_start": 800,
"cds_end": null,
"cds_length": 972,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.800G>A",
"hgvs_p": "p.Arg267Gln",
"transcript": "NM_001440886.1",
"protein_id": "NP_001427815.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 323,
"cds_start": 800,
"cds_end": null,
"cds_length": 972,
"cdna_start": 2971,
"cdna_end": null,
"cdna_length": 3460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.800G>A",
"hgvs_p": "p.Arg267Gln",
"transcript": "NM_001440887.1",
"protein_id": "NP_001427816.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 323,
"cds_start": 800,
"cds_end": null,
"cds_length": 972,
"cdna_start": 1781,
"cdna_end": null,
"cdna_length": 2270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.800G>A",
"hgvs_p": "p.Arg267Gln",
"transcript": "ENST00000683307.1",
"protein_id": "ENSP00000507198.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 323,
"cds_start": 800,
"cds_end": null,
"cds_length": 972,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509Gln",
"transcript": "XM_047426248.1",
"protein_id": "XP_047282204.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 561,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509Gln",
"transcript": "XM_011519842.4",
"protein_id": "XP_011518144.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 551,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509Gln",
"transcript": "XM_047426249.1",
"protein_id": "XP_047282205.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 539,
"cds_start": 1526,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.800G>A",
"hgvs_p": "p.Arg267Gln",
"transcript": "XM_047426250.1",
"protein_id": "XP_047282206.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 309,
"cds_start": 800,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 2110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.1411G>A",
"hgvs_p": null,
"transcript": "ENST00000525626.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.709G>A",
"hgvs_p": null,
"transcript": "ENST00000525904.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.1412G>A",
"hgvs_p": null,
"transcript": "ENST00000528864.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.*1149G>A",
"hgvs_p": null,
"transcript": "ENST00000530813.2",
"protein_id": "ENSP00000508507.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.1286G>A",
"hgvs_p": null,
"transcript": "ENST00000682936.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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{
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"transcript": "NM_001440883.1",
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}
],
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"dbsnp": "rs193920740",
"frequency_reference_population": 0.00004895994,
"hom_count_reference_population": 0,
"allele_count_reference_population": 79,
"gnomad_exomes_af": 0.0000499473,
"gnomad_genomes_af": 0.0000394675,
"gnomad_exomes_ac": 73,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.853426992893219,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.508,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8711,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.611,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000382409.4",
"gene_symbol": "DEAF1",
"hgnc_id": 14677,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1526G>A",
"hgvs_p": "p.Arg509Gln"
}
],
"clinvar_disease": "Inborn genetic diseases,Prostate cancer,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Prostate cancer|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}