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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: 2-86254797-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=86254797&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 86254797,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000538924.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.200A>T",
"hgvs_p": "p.Glu67Val",
"transcript": "NM_001371279.1",
"protein_id": "NP_001358208.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 284,
"cds_start": 200,
"cds_end": null,
"cds_length": 855,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": "ENST00000538924.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.200A>T",
"hgvs_p": "p.Glu67Val",
"transcript": "ENST00000538924.7",
"protein_id": "ENSP00000438346.3",
"transcript_support_level": 5,
"aa_start": 67,
"aa_end": null,
"aa_length": 284,
"cds_start": 200,
"cds_end": null,
"cds_length": 855,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": "NM_001371279.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.200A>T",
"hgvs_p": "p.Glu67Val",
"transcript": "ENST00000165698.9",
"protein_id": "ENSP00000165698.5",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 201,
"cds_start": 200,
"cds_end": null,
"cds_length": 606,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.158A>T",
"hgvs_p": "p.Glu53Val",
"transcript": "ENST00000642243.1",
"protein_id": "ENSP00000494960.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 320,
"cds_start": 158,
"cds_end": null,
"cds_length": 963,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.158A>T",
"hgvs_p": "p.Glu53Val",
"transcript": "ENST00000644644.1",
"protein_id": "ENSP00000494305.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 287,
"cds_start": 158,
"cds_end": null,
"cds_length": 864,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.200A>T",
"hgvs_p": "p.Glu67Val",
"transcript": "NM_001410855.1",
"protein_id": "NP_001397784.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 272,
"cds_start": 200,
"cds_end": null,
"cds_length": 819,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.200A>T",
"hgvs_p": "p.Glu67Val",
"transcript": "ENST00000643817.2",
"protein_id": "ENSP00000495610.2",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 272,
"cds_start": 200,
"cds_end": null,
"cds_length": 819,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.119A>T",
"hgvs_p": "p.Glu40Val",
"transcript": "ENST00000686220.1",
"protein_id": "ENSP00000509904.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 223,
"cds_start": 119,
"cds_end": null,
"cds_length": 672,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.200A>T",
"hgvs_p": "p.Glu67Val",
"transcript": "NM_001410856.1",
"protein_id": "NP_001397785.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 213,
"cds_start": 200,
"cds_end": null,
"cds_length": 642,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 3865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.200A>T",
"hgvs_p": "p.Glu67Val",
"transcript": "ENST00000691703.1",
"protein_id": "ENSP00000508496.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 213,
"cds_start": 200,
"cds_end": null,
"cds_length": 642,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 1046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.221A>T",
"hgvs_p": "p.Glu74Val",
"transcript": "NM_001164730.2",
"protein_id": "NP_001158202.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 208,
"cds_start": 221,
"cds_end": null,
"cds_length": 627,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.221A>T",
"hgvs_p": "p.Glu74Val",
"transcript": "ENST00000453231.6",
"protein_id": "ENSP00000392197.2",
"transcript_support_level": 2,
"aa_start": 74,
"aa_end": null,
"aa_length": 208,
"cds_start": 221,
"cds_end": null,
"cds_length": 627,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.200A>T",
"hgvs_p": "p.Glu67Val",
"transcript": "NM_022912.3",
"protein_id": "NP_075063.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 201,
"cds_start": 200,
"cds_end": null,
"cds_length": 606,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.119A>T",
"hgvs_p": "p.Glu40Val",
"transcript": "NM_001164731.2",
"protein_id": "NP_001158203.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 174,
"cds_start": 119,
"cds_end": null,
"cds_length": 525,
"cdna_start": 243,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.119A>T",
"hgvs_p": "p.Glu40Val",
"transcript": "ENST00000535845.6",
"protein_id": "ENSP00000437567.1",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 174,
"cds_start": 119,
"cds_end": null,
"cds_length": 525,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.200A>T",
"hgvs_p": "p.Glu67Val",
"transcript": "NM_001371280.1",
"protein_id": "NP_001358209.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 162,
"cds_start": 200,
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"cdna_start": 316,
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"cdna_length": 3651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.200A>T",
"hgvs_p": "p.Glu67Val",
"transcript": "ENST00000689156.1",
"protein_id": "ENSP00000509143.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 162,
"cds_start": 200,
"cds_end": null,
"cds_length": 489,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.50A>T",
"hgvs_p": "p.Glu17Val",
"transcript": "ENST00000692664.1",
"protein_id": "ENSP00000508656.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 151,
"cds_start": 50,
"cds_end": null,
"cds_length": 456,
"cdna_start": 166,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.134A>T",
"hgvs_p": "p.Glu45Val",
"transcript": "ENST00000489855.2",
"protein_id": "ENSP00000475269.1",
"transcript_support_level": 3,
"aa_start": 45,
"aa_end": null,
"aa_length": 146,
"cds_start": 134,
"cds_end": null,
"cds_length": 441,
"cdna_start": 136,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.20A>T",
"hgvs_p": "p.Glu7Val",
"transcript": "ENST00000691093.1",
"protein_id": "ENSP00000509465.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 141,
"cds_start": 20,
"cds_end": null,
"cds_length": 426,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.221A>T",
"hgvs_p": "p.Glu74Val",
"transcript": "XM_017004725.2",
"protein_id": "XP_016860214.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 279,
"cds_start": 221,
"cds_end": null,
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"cdna_start": 580,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.182A>T",
"hgvs_p": "p.Glu61Val",
"transcript": "XM_011533044.2",
"protein_id": "XP_011531346.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 278,
"cds_start": 182,
"cds_end": null,
"cds_length": 837,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 3908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.176A>T",
"hgvs_p": "p.Glu59Val",
"transcript": "XM_011533045.2",
"protein_id": "XP_011531347.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 276,
"cds_start": 176,
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}