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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: 11-117293108-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=117293108&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 117293108,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000313005.11",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.786G>C",
"hgvs_p": "p.Val262Val",
"transcript": "NM_012104.6",
"protein_id": "NP_036236.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 501,
"cds_start": 786,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": "ENST00000313005.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.786G>C",
"hgvs_p": "p.Val262Val",
"transcript": "ENST00000313005.11",
"protein_id": "ENSP00000318585.6",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 501,
"cds_start": 786,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": "NM_012104.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.711G>C",
"hgvs_p": "p.Val237Val",
"transcript": "ENST00000513780.5",
"protein_id": "ENSP00000424536.1",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 476,
"cds_start": 711,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 714,
"cdna_end": null,
"cdna_length": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.654G>C",
"hgvs_p": "p.Val218Val",
"transcript": "ENST00000445823.6",
"protein_id": "ENSP00000403685.2",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 457,
"cds_start": 654,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 1408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.579G>C",
"hgvs_p": "p.Val193Val",
"transcript": "ENST00000428381.6",
"protein_id": "ENSP00000402228.2",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 432,
"cds_start": 579,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 1333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.486G>C",
"hgvs_p": "p.Val162Val",
"transcript": "ENST00000392937.10",
"protein_id": "ENSP00000475405.1",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 401,
"cds_start": 486,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 5155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.711G>C",
"hgvs_p": "p.Val237Val",
"transcript": "NM_138972.4",
"protein_id": "NP_620428.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 476,
"cds_start": 711,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 5760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.786G>C",
"hgvs_p": "p.Val262Val",
"transcript": "ENST00000528053.5",
"protein_id": "ENSP00000431848.1",
"transcript_support_level": 5,
"aa_start": 262,
"aa_end": null,
"aa_length": 467,
"cds_start": 786,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 4083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.654G>C",
"hgvs_p": "p.Val218Val",
"transcript": "NM_138971.4",
"protein_id": "NP_620427.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 457,
"cds_start": 654,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 5703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.579G>C",
"hgvs_p": "p.Val193Val",
"transcript": "NM_138973.4",
"protein_id": "NP_620429.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 432,
"cds_start": 579,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 5628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.486G>C",
"hgvs_p": "p.Val162Val",
"transcript": "NM_001207048.3",
"protein_id": "NP_001193977.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 401,
"cds_start": 486,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 5100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.411G>C",
"hgvs_p": "p.Val137Val",
"transcript": "NM_001207049.3",
"protein_id": "NP_001193978.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 376,
"cds_start": 411,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 5025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.411G>C",
"hgvs_p": "p.Val137Val",
"transcript": "ENST00000510630.5",
"protein_id": "ENSP00000422461.1",
"transcript_support_level": 2,
"aa_start": 137,
"aa_end": null,
"aa_length": 376,
"cds_start": 411,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 1236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.486G>C",
"hgvs_p": "p.Val162Val",
"transcript": "ENST00000510915.6",
"protein_id": "ENSP00000475171.2",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 351,
"cds_start": 486,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 2248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.486G>C",
"hgvs_p": "p.Val162Val",
"transcript": "ENST00000680681.1",
"protein_id": "ENSP00000505419.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 333,
"cds_start": 486,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 3455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.84G>C",
"hgvs_p": "p.Val28Val",
"transcript": "NM_001411039.1",
"protein_id": "NP_001397968.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 267,
"cds_start": 84,
"cds_end": null,
"cds_length": 804,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 5188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "c.84G>C",
"hgvs_p": "p.Val28Val",
"transcript": "ENST00000680971.1",
"protein_id": "ENSP00000506107.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 267,
"cds_start": 84,
"cds_end": null,
"cds_length": 804,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 5546,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "n.*214G>C",
"hgvs_p": null,
"transcript": "ENST00000514464.2",
"protein_id": "ENSP00000505118.1",
"transcript_support_level": 2,
"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": 1349,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "n.652G>C",
"hgvs_p": null,
"transcript": "ENST00000530824.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1-AS",
"gene_hgnc_id": 37125,
"hgvs_c": "n.282C>G",
"hgvs_p": null,
"transcript": "ENST00000614401.1",
"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": 520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1-AS",
"gene_hgnc_id": 37125,
"hgvs_c": "n.4217C>G",
"hgvs_p": null,
"transcript": "ENST00000649580.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4584,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "n.1229G>C",
"hgvs_p": null,
"transcript": "ENST00000679585.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6283,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BACE1",
"gene_hgnc_id": 933,
"hgvs_c": "n.574G>C",
"hgvs_p": null,
"transcript": "ENST00000680271.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.41,
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"acmg_by_gene": [
{
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"verdict": "Benign",
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{
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"verdict": "Benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}