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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: 11-66564627-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66564627&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66564627,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003793.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Arg418Cys",
"transcript": "NM_003793.4",
"protein_id": "NP_003784.2",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 484,
"cds_start": 1252,
"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": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Arg418Cys",
"transcript": "ENST00000310325.10",
"protein_id": "ENSP00000310832.5",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 484,
"cds_start": 1252,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Arg418Cys",
"transcript": "ENST00000679347.1",
"protein_id": "ENSP00000503676.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 505,
"cds_start": 1252,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Arg418Cys",
"transcript": "ENST00000677005.1",
"protein_id": "ENSP00000503238.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 504,
"cds_start": 1252,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1294C>T",
"hgvs_p": "p.Arg432Cys",
"transcript": "ENST00000677587.1",
"protein_id": "ENSP00000503791.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 498,
"cds_start": 1294,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Arg418Cys",
"transcript": "ENST00000678872.1",
"protein_id": "ENSP00000503425.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 492,
"cds_start": 1252,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Arg417Cys",
"transcript": "ENST00000524994.6",
"protein_id": "ENSP00000433082.2",
"transcript_support_level": 5,
"aa_start": 417,
"aa_end": null,
"aa_length": 483,
"cds_start": 1249,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Arg417Cys",
"transcript": "ENST00000678471.1",
"protein_id": "ENSP00000502949.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 483,
"cds_start": 1249,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1243C>T",
"hgvs_p": "p.Arg415Cys",
"transcript": "ENST00000677896.1",
"protein_id": "ENSP00000504605.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 481,
"cds_start": 1243,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Arg418Cys",
"transcript": "ENST00000679024.1",
"protein_id": "ENSP00000503506.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 479,
"cds_start": 1252,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1237C>T",
"hgvs_p": "p.Arg413Cys",
"transcript": "ENST00000942857.1",
"protein_id": "ENSP00000612916.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 479,
"cds_start": 1237,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1183C>T",
"hgvs_p": "p.Arg395Cys",
"transcript": "ENST00000878096.1",
"protein_id": "ENSP00000548155.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 461,
"cds_start": 1183,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1180C>T",
"hgvs_p": "p.Arg394Cys",
"transcript": "ENST00000678305.1",
"protein_id": "ENSP00000504383.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 460,
"cds_start": 1180,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1177C>T",
"hgvs_p": "p.Arg393Cys",
"transcript": "ENST00000679160.1",
"protein_id": "ENSP00000503972.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 459,
"cds_start": 1177,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1171C>T",
"hgvs_p": "p.Arg391Cys",
"transcript": "ENST00000878093.1",
"protein_id": "ENSP00000548152.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 457,
"cds_start": 1171,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1153C>T",
"hgvs_p": "p.Arg385Cys",
"transcript": "ENST00000878097.1",
"protein_id": "ENSP00000548156.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 451,
"cds_start": 1153,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Arg375Cys",
"transcript": "ENST00000878094.1",
"protein_id": "ENSP00000548153.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 441,
"cds_start": 1123,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1042C>T",
"hgvs_p": "p.Arg348Cys",
"transcript": "ENST00000878095.1",
"protein_id": "ENSP00000548154.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 414,
"cds_start": 1042,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.976C>T",
"hgvs_p": "p.Arg326Cys",
"transcript": "ENST00000526010.2",
"protein_id": "ENSP00000435822.2",
"transcript_support_level": 4,
"aa_start": 326,
"aa_end": null,
"aa_length": 392,
"cds_start": 976,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Cys",
"transcript": "XM_011545328.3",
"protein_id": "XP_011543630.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 424,
"cds_start": 1072,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "c.1165+260C>T",
"hgvs_p": null,
"transcript": "ENST00000942856.1",
"protein_id": "ENSP00000612915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": null,
"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": 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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSF",
"gene_hgnc_id": 2531,
"hgvs_c": "n.*446C>T",
"hgvs_p": null,
"transcript": "ENST00000525733.6",
"protein_id": "ENSP00000434936.2",
"transcript_support_level": 3,
"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,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000525733.6"
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{
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],
"gene_symbol": "CTSF",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000824545,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6202401518821716,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.586,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1394,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.022,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003793.4",
"gene_symbol": "CTSF",
"hgnc_id": 2531,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Arg418Cys"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}