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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: X-49074878-G-GACA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=49074878&ref=G&alt=GACA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 49074878,
"ref": "G",
"alt": "GACA",
"effect": "disruptive_inframe_insertion",
"transcript": "NM_007075.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "VV",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1005_1007dupTGT",
"hgvs_p": "p.Val336dup",
"transcript": "NM_001029896.2",
"protein_id": "NP_001025067.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 360,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": "ENST00000376372.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001029896.2"
},
{
"aa_ref": "V",
"aa_alt": "VV",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1005_1007dupTGT",
"hgvs_p": "p.Val336dup",
"transcript": "ENST00000376372.9",
"protein_id": "ENSP00000365551.3",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 360,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": "NM_001029896.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376372.9"
},
{
"aa_ref": "V",
"aa_alt": "VV",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1008_1010dupTGT",
"hgvs_p": "p.Val337dup",
"transcript": "ENST00000356463.7",
"protein_id": "ENSP00000348848.3",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 361,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356463.7"
},
{
"aa_ref": "V",
"aa_alt": "VV",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1008_1010dupTGT",
"hgvs_p": "p.Val337dup",
"transcript": "ENST00000376368.7",
"protein_id": "ENSP00000365546.2",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 361,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 1381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376368.7"
},
{
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288053",
"gene_hgnc_id": null,
"hgvs_c": "c.521+483_521+485dupTGT",
"hgvs_p": null,
"transcript": "ENST00000376358.4",
"protein_id": "ENSP00000365536.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": null,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376358.4"
},
{
"aa_ref": "C",
"aa_alt": "CC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.757_759dupTGT",
"hgvs_p": "p.Cys253dup",
"transcript": "ENST00000473974.5",
"protein_id": "ENSP00000417211.1",
"transcript_support_level": 5,
"aa_start": 253,
"aa_end": null,
"aa_length": 256,
"cds_start": 759,
"cds_end": null,
"cds_length": 771,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 1077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473974.5"
},
{
"aa_ref": "C",
"aa_alt": "CC",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.355_357dupTGT",
"hgvs_p": "p.Cys119dup",
"transcript": "ENST00000475977.2",
"protein_id": "ENSP00000417754.2",
"transcript_support_level": 3,
"aa_start": 119,
"aa_end": null,
"aa_length": 122,
"cds_start": 357,
"cds_end": null,
"cds_length": 369,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 794,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475977.2"
},
{
"aa_ref": "V",
"aa_alt": "VV",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1065_1067dupTGT",
"hgvs_p": "p.Val356dup",
"transcript": "ENST00000954188.1",
"protein_id": "ENSP00000624247.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 380,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 1430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954188.1"
},
{
"aa_ref": "V",
"aa_alt": "VV",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1059_1061dupTGT",
"hgvs_p": "p.Val354dup",
"transcript": "ENST00000954181.1",
"protein_id": "ENSP00000624240.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 378,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 1645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954181.1"
},
{
"aa_ref": "V",
"aa_alt": "VV",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1041_1043dupTGT",
"hgvs_p": "p.Val348dup",
"transcript": "ENST00000905852.1",
"protein_id": "ENSP00000575911.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 372,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 1509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905852.1"
},
{
"aa_ref": "V",
"aa_alt": "VV",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1041_1043dupTGT",
"hgvs_p": "p.Val348dup",
"transcript": "ENST00000905855.1",
"protein_id": "ENSP00000575914.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 372,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905855.1"
},
{
"aa_ref": "V",
"aa_alt": "VV",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1041_1043dupTGT",
"hgvs_p": "p.Val348dup",
"transcript": "ENST00000954171.1",
"protein_id": "ENSP00000624230.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 372,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 1873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954171.1"
},
{
"aa_ref": "V",
"aa_alt": "VV",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1038_1040dupTGT",
"hgvs_p": "p.Val347dup",
"transcript": "ENST00000322995.13",
"protein_id": "ENSP00000365543.5",
"transcript_support_level": 5,
"aa_start": 347,
"aa_end": null,
"aa_length": 371,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322995.13"
},
{
"aa_ref": "V",
"aa_alt": "VV",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1038_1040dupTGT",
"hgvs_p": "p.Val347dup",
"transcript": "ENST00000905853.1",
"protein_id": "ENSP00000575912.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 371,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 1664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905853.1"
},
{
"aa_ref": "V",
"aa_alt": "VV",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1038_1040dupTGT",
"hgvs_p": "p.Val347dup",
"transcript": "ENST00000905865.1",
"protein_id": "ENSP00000575924.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 371,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1168,
"cdna_end": null,
"cdna_length": 1405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905865.1"
},
{
"aa_ref": "V",
"aa_alt": "VV",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1032_1034dupTGT",
"hgvs_p": "p.Val345dup",
"transcript": "ENST00000905870.1",
"protein_id": "ENSP00000575929.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 369,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 1421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905870.1"
},
{
"aa_ref": "V",
"aa_alt": "VV",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1026_1028dupTGT",
"hgvs_p": "p.Val343dup",
"transcript": "ENST00000905864.1",
"protein_id": "ENSP00000575923.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 367,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905864.1"
},
{
"aa_ref": "V",
"aa_alt": "VV",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1017_1019dupTGT",
"hgvs_p": "p.Val340dup",
"transcript": "ENST00000954183.1",
"protein_id": "ENSP00000624242.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 364,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 1427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954183.1"
},
{
"aa_ref": "V",
"aa_alt": "VV",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1008_1010dupTGT",
"hgvs_p": "p.Val337dup",
"transcript": "NM_007075.4",
"protein_id": "NP_009006.2",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 361,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007075.4"
},
{
"aa_ref": "V",
"aa_alt": "VV",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1008_1010dupTGT",
"hgvs_p": "p.Val337dup",
"transcript": "ENST00000905849.1",
"protein_id": "ENSP00000575908.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 361,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 1800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905849.1"
},
{
"aa_ref": "V",
"aa_alt": "VV",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WDR45",
"gene_hgnc_id": 28912,
"hgvs_c": "c.1008_1010dupTGT",
"hgvs_p": "p.Val337dup",
"transcript": "ENST00000905860.1",
"protein_id": "ENSP00000575919.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 361,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905860.1"
},
{
"aa_ref": "V",
"aa_alt": "VV",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
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{
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"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Neurodegeneration with brain iron accumulation 5",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}