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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: 11-66564098-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66564098&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66564098,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003793.4",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1370G>C",
"hgvs_p": "p.Trp457Ser",
"transcript": "NM_003793.4",
"protein_id": "NP_003784.2",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 484,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310325.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003793.4"
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1370G>C",
"hgvs_p": "p.Trp457Ser",
"transcript": "ENST00000310325.10",
"protein_id": "ENSP00000310832.5",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 484,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003793.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310325.10"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1465G>C",
"hgvs_p": "p.Gly489Arg",
"transcript": "ENST00000679347.1",
"protein_id": "ENSP00000503676.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 505,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679347.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1462G>C",
"hgvs_p": "p.Gly488Arg",
"transcript": "ENST00000677005.1",
"protein_id": "ENSP00000503238.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 504,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677005.1"
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1412G>C",
"hgvs_p": "p.Trp471Ser",
"transcript": "ENST00000677587.1",
"protein_id": "ENSP00000503791.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 498,
"cds_start": 1412,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677587.1"
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1367G>C",
"hgvs_p": "p.Trp456Ser",
"transcript": "ENST00000524994.6",
"protein_id": "ENSP00000433082.2",
"transcript_support_level": 5,
"aa_start": 456,
"aa_end": null,
"aa_length": 483,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524994.6"
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1367G>C",
"hgvs_p": "p.Trp456Ser",
"transcript": "ENST00000678471.1",
"protein_id": "ENSP00000502949.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 483,
"cds_start": 1367,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678471.1"
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Trp454Ser",
"transcript": "ENST00000677896.1",
"protein_id": "ENSP00000504605.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 481,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677896.1"
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1370G>C",
"hgvs_p": "p.Trp457Ser",
"transcript": "ENST00000679024.1",
"protein_id": "ENSP00000503506.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 479,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679024.1"
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1355G>C",
"hgvs_p": "p.Trp452Ser",
"transcript": "ENST00000942857.1",
"protein_id": "ENSP00000612916.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 479,
"cds_start": 1355,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942857.1"
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1301G>C",
"hgvs_p": "p.Trp434Ser",
"transcript": "ENST00000878096.1",
"protein_id": "ENSP00000548155.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 461,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878096.1"
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1298G>C",
"hgvs_p": "p.Trp433Ser",
"transcript": "ENST00000678305.1",
"protein_id": "ENSP00000504383.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 460,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678305.1"
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1295G>C",
"hgvs_p": "p.Trp432Ser",
"transcript": "ENST00000679160.1",
"protein_id": "ENSP00000503972.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 459,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679160.1"
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1289G>C",
"hgvs_p": "p.Trp430Ser",
"transcript": "ENST00000878093.1",
"protein_id": "ENSP00000548152.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 457,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878093.1"
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1271G>C",
"hgvs_p": "p.Trp424Ser",
"transcript": "ENST00000878097.1",
"protein_id": "ENSP00000548156.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 451,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878097.1"
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Trp414Ser",
"transcript": "ENST00000878094.1",
"protein_id": "ENSP00000548153.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 441,
"cds_start": 1241,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878094.1"
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1214G>C",
"hgvs_p": "p.Trp405Ser",
"transcript": "ENST00000942856.1",
"protein_id": "ENSP00000612915.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 432,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942856.1"
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1160G>C",
"hgvs_p": "p.Trp387Ser",
"transcript": "ENST00000878095.1",
"protein_id": "ENSP00000548154.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 414,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878095.1"
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1094G>C",
"hgvs_p": "p.Trp365Ser",
"transcript": "ENST00000526010.2",
"protein_id": "ENSP00000435822.2",
"transcript_support_level": 4,
"aa_start": 365,
"aa_end": null,
"aa_length": 392,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526010.2"
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1190G>C",
"hgvs_p": "p.Trp397Ser",
"transcript": "XM_011545328.3",
"protein_id": "XP_011543630.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 424,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545328.3"
},
{
"aa_ref": "W",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1370G>C",
"hgvs_p": "p.Trp457Ser",
"transcript": "ENST00000678872.1",
"protein_id": "ENSP00000503425.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 492,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678872.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "n.1680G>C",
"hgvs_p": null,
"transcript": "ENST00000527141.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Pathogenic",
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"alphamissense_prediction": "Pathogenic",
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"bayesdelnoaf_prediction": "Pathogenic",
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{
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"criteria": [
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"PP3_Strong"
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"verdict": "Likely_pathogenic",
"transcript": "NM_003793.4",
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"effects": [
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],
"inheritance_mode": "AR,Unknown",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}