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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: 11-1753534-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=1753534&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 1753534,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001909.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403Lys",
"transcript": "NM_001909.5",
"protein_id": "NP_001900.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 412,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": "ENST00000236671.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001909.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403Lys",
"transcript": "ENST00000236671.7",
"protein_id": "ENSP00000236671.2",
"transcript_support_level": 1,
"aa_start": 403,
"aa_end": null,
"aa_length": 412,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": "NM_001909.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000236671.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ENSG00000250644",
"gene_hgnc_id": null,
"hgvs_c": "c.1071+269G>A",
"hgvs_p": null,
"transcript": "ENST00000636615.1",
"protein_id": "ENSP00000490014.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": null,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636615.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1373G>A",
"hgvs_p": "p.Arg458Lys",
"transcript": "ENST00000962446.1",
"protein_id": "ENSP00000632505.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 467,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962446.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442Lys",
"transcript": "ENST00000438213.6",
"protein_id": "ENSP00000415036.2",
"transcript_support_level": 2,
"aa_start": 442,
"aa_end": null,
"aa_length": 451,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 1544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438213.6"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1253G>A",
"hgvs_p": "p.Arg418Lys",
"transcript": "ENST00000962447.1",
"protein_id": "ENSP00000632506.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 427,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962447.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Arg401Lys",
"transcript": "ENST00000636843.1",
"protein_id": "ENSP00000490897.1",
"transcript_support_level": 5,
"aa_start": 401,
"aa_end": null,
"aa_length": 410,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636843.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Arg401Lys",
"transcript": "ENST00000916370.1",
"protein_id": "ENSP00000586429.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 410,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1323,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916370.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Arg400Lys",
"transcript": "ENST00000637915.1",
"protein_id": "ENSP00000490471.1",
"transcript_support_level": 5,
"aa_start": 400,
"aa_end": null,
"aa_length": 409,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 1982,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637915.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1196G>A",
"hgvs_p": "p.Arg399Lys",
"transcript": "ENST00000962444.1",
"protein_id": "ENSP00000632503.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 408,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962444.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Lys",
"transcript": "ENST00000637815.2",
"protein_id": "ENSP00000490344.1",
"transcript_support_level": 5,
"aa_start": 397,
"aa_end": null,
"aa_length": 406,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637815.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397Lys",
"transcript": "ENST00000962445.1",
"protein_id": "ENSP00000632504.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 406,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 2053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962445.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396Lys",
"transcript": "ENST00000636571.1",
"protein_id": "ENSP00000490770.1",
"transcript_support_level": 5,
"aa_start": 396,
"aa_end": null,
"aa_length": 405,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 1790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636571.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396Lys",
"transcript": "ENST00000637387.1",
"protein_id": "ENSP00000490598.1",
"transcript_support_level": 5,
"aa_start": 396,
"aa_end": null,
"aa_length": 405,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 1597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637387.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1157G>A",
"hgvs_p": "p.Arg386Lys",
"transcript": "ENST00000907824.1",
"protein_id": "ENSP00000577883.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 395,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907824.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Arg368Lys",
"transcript": "ENST00000367196.4",
"protein_id": "ENSP00000356164.4",
"transcript_support_level": 5,
"aa_start": 368,
"aa_end": null,
"aa_length": 377,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367196.4"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Arg368Lys",
"transcript": "ENST00000429746.2",
"protein_id": "ENSP00000402586.2",
"transcript_support_level": 3,
"aa_start": 368,
"aa_end": null,
"aa_length": 377,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429746.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.1085G>A",
"hgvs_p": "p.Arg362Lys",
"transcript": "ENST00000907825.1",
"protein_id": "ENSP00000577884.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 371,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907825.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.911G>A",
"hgvs_p": "p.Arg304Lys",
"transcript": "ENST00000907826.1",
"protein_id": "ENSP00000577885.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 313,
"cds_start": 911,
"cds_end": null,
"cds_length": 942,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907826.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "CTSD",
"gene_hgnc_id": 2529,
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159Lys",
"transcript": "ENST00000907823.1",
"protein_id": "ENSP00000577882.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 168,
"cds_start": 476,
"cds_end": null,
"cds_length": 507,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 1323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907823.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000250644",
"gene_hgnc_id": null,
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Arg211Lys",
"transcript": "ENST00000427721.3",
"protein_id": "ENSP00000415840.3",
"transcript_support_level": 2,
"aa_start": 211,
"aa_end": null,
"aa_length": 334,
"cds_start": 632,
"cds_end": null,
"cds_length": 1006,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 1007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427721.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ENSG00000250644",
"gene_hgnc_id": null,
"hgvs_c": "c.1071+269G>A",
"hgvs_p": null,
"transcript": "ENST00000636397.1",
"protein_id": "ENSP00000489910.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": null,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
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{
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],
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}
],
"message": null
}