← Back to variant description
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: 2-174571942-TGAG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=174571942&ref=TGAG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 174571942,
"ref": "TGAG",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000679041.1",
"consequences": [
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "NM_001375834.1",
"protein_id": "NP_001362763.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": "ENST00000679041.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "ENST00000679041.1",
"protein_id": "ENSP00000503603.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": "NM_001375834.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "ENST00000272746.9",
"protein_id": "ENSP00000272746.5",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 510,
"cds_start": 860,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "ENST00000359761.7",
"protein_id": "ENSP00000352802.3",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "ENST00000392547.6",
"protein_id": "ENSP00000376330.2",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 4587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "ENST00000409891.5",
"protein_id": "ENSP00000386431.1",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 493,
"cds_start": 860,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "ENST00000409415.7",
"protein_id": "ENSP00000387150.3",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 403,
"cds_start": 860,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.217+24476_217+24478delAGG",
"hgvs_p": null,
"transcript": "ENST00000442996.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "NM_001375835.1",
"protein_id": "NP_001362764.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 510,
"cds_start": 860,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 4238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "NM_001077269.1",
"protein_id": "NP_001070737.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "NM_001375832.1",
"protein_id": "NP_001362761.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "NM_001375833.1",
"protein_id": "NP_001362762.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 4751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "NM_003387.5",
"protein_id": "NP_003378.3",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 4611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "ENST00000392546.6",
"protein_id": "ENSP00000376329.2",
"transcript_support_level": 5,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 2180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "ENST00000436221.2",
"protein_id": "ENSP00000388454.2",
"transcript_support_level": 3,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 4551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "ENST00000698668.1",
"protein_id": "ENSP00000513869.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 4570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "ENST00000698701.1",
"protein_id": "ENSP00000513882.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 4628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "ENST00000698667.1",
"protein_id": "ENSP00000513868.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 432,
"cds_start": 860,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 4426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "NM_001375836.1",
"protein_id": "NP_001362765.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 403,
"cds_start": 860,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "NM_001375837.1",
"protein_id": "NP_001362766.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 403,
"cds_start": 860,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 1762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "NM_001375838.1",
"protein_id": "NP_001362767.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 403,
"cds_start": 860,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.482_484delCTC",
"hgvs_p": "p.Pro161del",
"transcript": "NM_001375839.1",
"protein_id": "NP_001362768.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 377,
"cds_start": 482,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "XM_047445749.1",
"protein_id": "XP_047301705.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "XM_047445750.1",
"protein_id": "XP_047301706.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 24906,
"cdna_end": null,
"cdna_length": 28529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "XM_047445751.1",
"protein_id": "XP_047301707.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 5467,
"cdna_end": null,
"cdna_length": 9090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "XM_047445752.1",
"protein_id": "XP_047301708.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 8765,
"cdna_end": null,
"cdna_length": 12388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "XM_047445753.1",
"protein_id": "XP_047301709.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1803,
"cdna_end": null,
"cdna_length": 5426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "XM_047445754.1",
"protein_id": "XP_047301710.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 5113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "XM_047445755.1",
"protein_id": "XP_047301711.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 5116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "XM_047445756.1",
"protein_id": "XP_047301712.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 5006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PQ",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del",
"transcript": "XM_047445757.1",
"protein_id": "XP_047301713.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 503,
"cds_start": 860,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 24414,
"cdna_end": null,
"cdna_length": 28037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "n.865_867delCTC",
"hgvs_p": null,
"transcript": "ENST00000698666.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.104+24476_104+24478delAGG",
"hgvs_p": null,
"transcript": "ENST00000412835.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.181+24476_181+24478delAGG",
"hgvs_p": null,
"transcript": "ENST00000657063.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.222+24476_222+24478delAGG",
"hgvs_p": null,
"transcript": "ENST00000842845.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.108+24705_108+24707delAGG",
"hgvs_p": null,
"transcript": "ENST00000842846.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.215+24476_215+24478delAGG",
"hgvs_p": null,
"transcript": "ENST00000842847.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.181+24476_181+24478delAGG",
"hgvs_p": null,
"transcript": "ENST00000842848.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.127+24476_127+24478delAGG",
"hgvs_p": null,
"transcript": "ENST00000842849.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.168+24476_168+24478delAGG",
"hgvs_p": null,
"transcript": "ENST00000842850.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.361+24476_361+24478delAGG",
"hgvs_p": null,
"transcript": "ENST00000842851.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.106+24705_106+24707delAGG",
"hgvs_p": null,
"transcript": "ENST00000842852.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"dbsnp": "rs556678311",
"frequency_reference_population": 0.00004341381,
"hom_count_reference_population": 0,
"allele_count_reference_population": 69,
"gnomad_exomes_af": 0.0000424196,
"gnomad_genomes_af": 0.0000528611,
"gnomad_exomes_ac": 61,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.664,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4_Supporting",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000679041.1",
"gene_symbol": "WIPF1",
"hgnc_id": 12736,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.860_862delCTC",
"hgvs_p": "p.Pro287del"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000442996.1",
"gene_symbol": "ENSG00000236449",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.217+24476_217+24478delAGG",
"hgvs_p": null
}
],
"clinvar_disease": "Wiskott-Aldrich syndrome 2,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Wiskott-Aldrich syndrome 2|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}