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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: 2-86232737-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=86232737&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 86232737,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000538924.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gly161Gly",
"transcript": "NM_001371279.1",
"protein_id": "NP_001358208.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 284,
"cds_start": 483,
"cds_end": null,
"cds_length": 855,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": "ENST00000538924.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gly161Gly",
"transcript": "ENST00000538924.7",
"protein_id": "ENSP00000438346.3",
"transcript_support_level": 5,
"aa_start": 161,
"aa_end": null,
"aa_length": 284,
"cds_start": 483,
"cds_end": null,
"cds_length": 855,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": "NM_001371279.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gly161Gly",
"transcript": "ENST00000165698.9",
"protein_id": "ENSP00000165698.5",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 201,
"cds_start": 483,
"cds_end": null,
"cds_length": 606,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.248A>G",
"hgvs_p": "p.Glu83Gly",
"transcript": "NM_001164732.2",
"protein_id": "NP_001158204.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 143,
"cds_start": 248,
"cds_end": null,
"cds_length": 432,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 3594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.248A>G",
"hgvs_p": "p.Glu83Gly",
"transcript": "ENST00000541910.6",
"protein_id": "ENSP00000442681.1",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 143,
"cds_start": 248,
"cds_end": null,
"cds_length": 432,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.591A>G",
"hgvs_p": "p.Gly197Gly",
"transcript": "ENST00000642243.1",
"protein_id": "ENSP00000494960.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 320,
"cds_start": 591,
"cds_end": null,
"cds_length": 963,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.492A>G",
"hgvs_p": "p.Gly164Gly",
"transcript": "ENST00000644644.1",
"protein_id": "ENSP00000494305.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 287,
"cds_start": 492,
"cds_end": null,
"cds_length": 864,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gly161Gly",
"transcript": "NM_001410855.1",
"protein_id": "NP_001397784.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 272,
"cds_start": 483,
"cds_end": null,
"cds_length": 819,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gly161Gly",
"transcript": "ENST00000643817.2",
"protein_id": "ENSP00000495610.2",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 272,
"cds_start": 483,
"cds_end": null,
"cds_length": 819,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.402A>G",
"hgvs_p": "p.Gly134Gly",
"transcript": "ENST00000686220.1",
"protein_id": "ENSP00000509904.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 223,
"cds_start": 402,
"cds_end": null,
"cds_length": 672,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gly161Gly",
"transcript": "NM_001410856.1",
"protein_id": "NP_001397785.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 213,
"cds_start": 483,
"cds_end": null,
"cds_length": 642,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 3865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gly161Gly",
"transcript": "ENST00000691703.1",
"protein_id": "ENSP00000508496.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 213,
"cds_start": 483,
"cds_end": null,
"cds_length": 642,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 1046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.504A>G",
"hgvs_p": "p.Gly168Gly",
"transcript": "NM_001164730.2",
"protein_id": "NP_001158202.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 208,
"cds_start": 504,
"cds_end": null,
"cds_length": 627,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.504A>G",
"hgvs_p": "p.Gly168Gly",
"transcript": "ENST00000453231.6",
"protein_id": "ENSP00000392197.2",
"transcript_support_level": 2,
"aa_start": 168,
"aa_end": null,
"aa_length": 208,
"cds_start": 504,
"cds_end": null,
"cds_length": 627,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.483A>G",
"hgvs_p": "p.Gly161Gly",
"transcript": "NM_022912.3",
"protein_id": "NP_075063.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 201,
"cds_start": 483,
"cds_end": null,
"cds_length": 606,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.402A>G",
"hgvs_p": "p.Gly134Gly",
"transcript": "NM_001164731.2",
"protein_id": "NP_001158203.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 174,
"cds_start": 402,
"cds_end": null,
"cds_length": 525,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 3756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.402A>G",
"hgvs_p": "p.Gly134Gly",
"transcript": "ENST00000535845.6",
"protein_id": "ENSP00000437567.1",
"transcript_support_level": 2,
"aa_start": 134,
"aa_end": null,
"aa_length": 174,
"cds_start": 402,
"cds_end": null,
"cds_length": 525,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.333A>G",
"hgvs_p": "p.Gly111Gly",
"transcript": "ENST00000692664.1",
"protein_id": "ENSP00000508656.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 151,
"cds_start": 333,
"cds_end": null,
"cds_length": 456,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.303A>G",
"hgvs_p": "p.Gly101Gly",
"transcript": "ENST00000691093.1",
"protein_id": "ENSP00000509465.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 141,
"cds_start": 303,
"cds_end": null,
"cds_length": 426,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.171A>G",
"hgvs_p": "p.Gly57Gly",
"transcript": "ENST00000688400.1",
"protein_id": "ENSP00000510490.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 97,
"cds_start": 171,
"cds_end": null,
"cds_length": 294,
"cdna_start": 171,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.504A>G",
"hgvs_p": "p.Gly168Gly",
"transcript": "XM_017004725.2",
"protein_id": "XP_016860214.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 279,
"cds_start": 504,
"cds_end": null,
"cds_length": 840,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.465A>G",
"hgvs_p": "p.Gly155Gly",
"transcript": "XM_011533044.2",
"protein_id": "XP_011531346.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 278,
"cds_start": 465,
"cds_end": null,
"cds_length": 837,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 3908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.459A>G",
"hgvs_p": "p.Gly153Gly",
"transcript": "XM_011533045.2",
"protein_id": "XP_011531347.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 276,
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],
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"computational_score_selected": 0.05708509683609009,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_score": 0.199,
"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -17,
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"pathogenic_score": 0,
"criteria": [
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"BP7",
"BS1"
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"verdict": "Benign",
"transcript": "ENST00000538924.7",
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"effects": [
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"inheritance_mode": "AD,AR",
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],
"clinvar_disease": "Hereditary spastic paraplegia 31,Inborn genetic diseases,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "not provided|Hereditary spastic paraplegia 31|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}