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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: 17-5474763-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=5474763&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 5474763,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016041.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.641A>C",
"hgvs_p": "p.Glu214Ala",
"transcript": "NM_016041.5",
"protein_id": "NP_057125.2",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 239,
"cds_start": 641,
"cds_end": null,
"cds_length": 720,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 4167,
"mane_select": "ENST00000158771.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016041.5"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.641A>C",
"hgvs_p": "p.Glu214Ala",
"transcript": "ENST00000158771.9",
"protein_id": "ENSP00000158771.4",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 239,
"cds_start": 641,
"cds_end": null,
"cds_length": 720,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 4167,
"mane_select": "NM_016041.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000158771.9"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.641A>C",
"hgvs_p": "p.Glu214Ala",
"transcript": "ENST00000889580.1",
"protein_id": "ENSP00000559639.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 239,
"cds_start": 641,
"cds_end": null,
"cds_length": 720,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889580.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.641A>C",
"hgvs_p": "p.Glu214Ala",
"transcript": "ENST00000889592.1",
"protein_id": "ENSP00000559651.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 239,
"cds_start": 641,
"cds_end": null,
"cds_length": 720,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 1125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889592.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.638A>C",
"hgvs_p": "p.Glu213Ala",
"transcript": "NM_001304777.2",
"protein_id": "NP_001291706.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 238,
"cds_start": 638,
"cds_end": null,
"cds_length": 717,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 4164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304777.2"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.638A>C",
"hgvs_p": "p.Glu213Ala",
"transcript": "ENST00000889578.1",
"protein_id": "ENSP00000559637.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 238,
"cds_start": 638,
"cds_end": null,
"cds_length": 717,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 4191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889578.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.638A>C",
"hgvs_p": "p.Glu213Ala",
"transcript": "ENST00000931638.1",
"protein_id": "ENSP00000601697.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 238,
"cds_start": 638,
"cds_end": null,
"cds_length": 717,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 1152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931638.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.632A>C",
"hgvs_p": "p.Glu211Ala",
"transcript": "ENST00000889590.1",
"protein_id": "ENSP00000559649.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 236,
"cds_start": 632,
"cds_end": null,
"cds_length": 711,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 1118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889590.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.605A>C",
"hgvs_p": "p.Glu202Ala",
"transcript": "ENST00000889591.1",
"protein_id": "ENSP00000559650.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 227,
"cds_start": 605,
"cds_end": null,
"cds_length": 684,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 1089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889591.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.596A>C",
"hgvs_p": "p.Glu199Ala",
"transcript": "ENST00000889593.1",
"protein_id": "ENSP00000559652.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 224,
"cds_start": 596,
"cds_end": null,
"cds_length": 675,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 1075,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889593.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.593A>C",
"hgvs_p": "p.Glu198Ala",
"transcript": "ENST00000889579.1",
"protein_id": "ENSP00000559638.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 223,
"cds_start": 593,
"cds_end": null,
"cds_length": 672,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889579.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.593A>C",
"hgvs_p": "p.Glu198Ala",
"transcript": "ENST00000889588.1",
"protein_id": "ENSP00000559647.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 223,
"cds_start": 593,
"cds_end": null,
"cds_length": 672,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 1081,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889588.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.590A>C",
"hgvs_p": "p.Glu197Ala",
"transcript": "ENST00000889587.1",
"protein_id": "ENSP00000559646.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 222,
"cds_start": 590,
"cds_end": null,
"cds_length": 669,
"cdna_start": 607,
"cdna_end": null,
"cdna_length": 1079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889587.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.575A>C",
"hgvs_p": "p.Glu192Ala",
"transcript": "ENST00000889582.1",
"protein_id": "ENSP00000559641.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 217,
"cds_start": 575,
"cds_end": null,
"cds_length": 654,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 1127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889582.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.557A>C",
"hgvs_p": "p.Glu186Ala",
"transcript": "ENST00000889586.1",
"protein_id": "ENSP00000559645.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 211,
"cds_start": 557,
"cds_end": null,
"cds_length": 636,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 1058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889586.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.554A>C",
"hgvs_p": "p.Glu185Ala",
"transcript": "ENST00000967035.1",
"protein_id": "ENSP00000637094.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 210,
"cds_start": 554,
"cds_end": null,
"cds_length": 633,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 1047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967035.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.500A>C",
"hgvs_p": "p.Glu167Ala",
"transcript": "ENST00000889583.1",
"protein_id": "ENSP00000559642.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 192,
"cds_start": 500,
"cds_end": null,
"cds_length": 579,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 1028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889583.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.434A>C",
"hgvs_p": "p.Glu145Ala",
"transcript": "ENST00000931637.1",
"protein_id": "ENSP00000601696.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 170,
"cds_start": 434,
"cds_end": null,
"cds_length": 513,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 3951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931637.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.398A>C",
"hgvs_p": "p.Glu133Ala",
"transcript": "ENST00000575605.5",
"protein_id": "ENSP00000459083.1",
"transcript_support_level": 4,
"aa_start": 133,
"aa_end": null,
"aa_length": 158,
"cds_start": 398,
"cds_end": null,
"cds_length": 477,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575605.5"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.392A>C",
"hgvs_p": "p.Glu131Ala",
"transcript": "ENST00000931639.1",
"protein_id": "ENSP00000601698.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 156,
"cds_start": 392,
"cds_end": null,
"cds_length": 471,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931639.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.350A>C",
"hgvs_p": "p.Glu117Ala",
"transcript": "ENST00000889585.1",
"protein_id": "ENSP00000559644.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 142,
"cds_start": 350,
"cds_end": null,
"cds_length": 429,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889585.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DERL2",
"gene_hgnc_id": 17943,
"hgvs_c": "c.347A>C",
"hgvs_p": "p.Glu116Ala",
"transcript": "ENST00000889589.1",
"protein_id": "ENSP00000559648.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 141,
"cds_start": 347,
"cds_end": null,
"cds_length": 426,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889589.1"
},
{
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.38,
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{
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],
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],
"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
}