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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: 1-158355884-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=158355884&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 158355884,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_030893.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Leu228Pro",
"transcript": "NM_030893.4",
"protein_id": "NP_112155.2",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 388,
"cds_start": 683,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": "ENST00000368167.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Leu228Pro",
"transcript": "ENST00000368167.8",
"protein_id": "ENSP00000357149.3",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 388,
"cds_start": 683,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 1919,
"mane_select": "NM_030893.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Leu228Pro",
"transcript": "ENST00000368160.7",
"protein_id": "ENSP00000357142.3",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 376,
"cds_start": 683,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Leu228Pro",
"transcript": "ENST00000368163.7",
"protein_id": "ENSP00000357145.3",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 321,
"cds_start": 683,
"cds_end": null,
"cds_length": 966,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 1678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.413T>C",
"hgvs_p": "p.Leu138Pro",
"transcript": "ENST00000368165.7",
"protein_id": "ENSP00000357147.3",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 298,
"cds_start": 413,
"cds_end": null,
"cds_length": 897,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 1003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Leu228Pro",
"transcript": "ENST00000368161.7",
"protein_id": "ENSP00000357143.3",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 290,
"cds_start": 683,
"cds_end": null,
"cds_length": 873,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.386T>C",
"hgvs_p": "p.Leu129Pro",
"transcript": "ENST00000444681.6",
"protein_id": "ENSP00000402906.2",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 289,
"cds_start": 386,
"cds_end": null,
"cds_length": 870,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 1820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.413T>C",
"hgvs_p": "p.Leu138Pro",
"transcript": "ENST00000368156.5",
"protein_id": "ENSP00000357138.1",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 286,
"cds_start": 413,
"cds_end": null,
"cds_length": 861,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.413T>C",
"hgvs_p": "p.Leu138Pro",
"transcript": "ENST00000368155.7",
"protein_id": "ENSP00000357137.3",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 231,
"cds_start": 413,
"cds_end": null,
"cds_length": 696,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Leu39Pro",
"transcript": "ENST00000452291.6",
"protein_id": "ENSP00000416228.2",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 199,
"cds_start": 116,
"cds_end": null,
"cds_length": 600,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Leu39Pro",
"transcript": "ENST00000368166.7",
"protein_id": "ENSP00000357148.3",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 187,
"cds_start": 116,
"cds_end": null,
"cds_length": 564,
"cdna_start": 220,
"cdna_end": null,
"cdna_length": 1271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Leu39Pro",
"transcript": "ENST00000368154.5",
"protein_id": "ENSP00000357136.1",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 144,
"cds_start": 116,
"cds_end": null,
"cds_length": 435,
"cdna_start": 116,
"cdna_end": null,
"cdna_length": 435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Leu39Pro",
"transcript": "ENST00000368157.5",
"protein_id": "ENSP00000357139.1",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 132,
"cds_start": 116,
"cds_end": null,
"cds_length": 399,
"cdna_start": 116,
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"cdna_length": 399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Leu39Pro",
"transcript": "ENST00000368164.7",
"protein_id": "ENSP00000357146.3",
"transcript_support_level": 1,
"aa_start": 39,
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"cds_start": 116,
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"cdna_start": 189,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Leu228Pro",
"transcript": "NM_001042583.3",
"protein_id": "NP_001036048.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 376,
"cds_start": 683,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 1883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Leu228Pro",
"transcript": "NM_001042585.3",
"protein_id": "NP_001036050.1",
"transcript_support_level": null,
"aa_start": 228,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.413T>C",
"hgvs_p": "p.Leu138Pro",
"transcript": "NM_001185107.2",
"protein_id": "NP_001172036.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 298,
"cds_start": 413,
"cds_end": null,
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"cdna_start": 508,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Leu228Pro",
"transcript": "NM_001042584.3",
"protein_id": "NP_001036049.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 290,
"cds_start": 683,
"cds_end": null,
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"cdna_start": 778,
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"cdna_length": 1815,
"mane_select": null,
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"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.386T>C",
"hgvs_p": "p.Leu129Pro",
"transcript": "NM_001185114.2",
"protein_id": "NP_001172043.1",
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"aa_start": 129,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.413T>C",
"hgvs_p": "p.Leu138Pro",
"transcript": "NM_001185115.2",
"protein_id": "NP_001172044.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"intron_rank": null,
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"gene_symbol": "CD1E",
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"hgvs_c": "c.413T>C",
"hgvs_p": "p.Leu138Pro",
"transcript": "NM_001185108.2",
"protein_id": "NP_001172037.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Leu39Pro",
"transcript": "NM_001185112.2",
"protein_id": "NP_001172041.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 199,
"cds_start": 116,
"cds_end": null,
"cds_length": 600,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD1E",
"gene_hgnc_id": 1638,
"hgvs_c": "c.116T>C",
"hgvs_p": "p.Leu39Pro",
"transcript": "NM_001042586.3",
"protein_id": "NP_001036051.1",
"transcript_support_level": null,
"aa_start": 39,
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}
],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Uncertain_significance",
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{
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],
"verdict": "Uncertain_significance",
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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
}