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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: 3-52075981-ACTGT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52075981&ref=ACTGT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52075981,
"ref": "ACTGT",
"alt": "A",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "NM_015426.5",
"consequences": [
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.1126_1129delACAG",
"hgvs_p": "p.Thr376fs",
"transcript": "NM_015426.5",
"protein_id": "NP_056241.3",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 407,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": "ENST00000296484.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015426.5"
},
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.1126_1129delACAG",
"hgvs_p": "p.Thr376fs",
"transcript": "ENST00000296484.7",
"protein_id": "ENSP00000296484.2",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 407,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": "NM_015426.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296484.7"
},
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.982_985delACAG",
"hgvs_p": "p.Thr328fs",
"transcript": "ENST00000394970.6",
"protein_id": "ENSP00000378421.2",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 359,
"cds_start": 982,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1303,
"cdna_end": null,
"cdna_length": 1999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394970.6"
},
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.1090_1093delACAG",
"hgvs_p": "p.Thr364fs",
"transcript": "ENST00000939755.1",
"protein_id": "ENSP00000609814.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 395,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939755.1"
},
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.1063_1066delACAG",
"hgvs_p": "p.Thr355fs",
"transcript": "ENST00000939751.1",
"protein_id": "ENSP00000609810.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 386,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939751.1"
},
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.1027_1030delACAG",
"hgvs_p": "p.Thr343fs",
"transcript": "ENST00000939749.1",
"protein_id": "ENSP00000609808.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 374,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939749.1"
},
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.1012_1015delACAG",
"hgvs_p": "p.Thr338fs",
"transcript": "NM_001161581.2",
"protein_id": "NP_001155053.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 369,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161581.2"
},
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.1012_1015delACAG",
"hgvs_p": "p.Thr338fs",
"transcript": "ENST00000474012.1",
"protein_id": "ENSP00000418968.1",
"transcript_support_level": 2,
"aa_start": 338,
"aa_end": null,
"aa_length": 369,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 1760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474012.1"
},
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.982_985delACAG",
"hgvs_p": "p.Thr328fs",
"transcript": "NM_001161580.2",
"protein_id": "NP_001155052.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 359,
"cds_start": 982,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001161580.2"
},
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.982_985delACAG",
"hgvs_p": "p.Thr328fs",
"transcript": "ENST00000939750.1",
"protein_id": "ENSP00000609809.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 359,
"cds_start": 982,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939750.1"
},
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.970_973delACAG",
"hgvs_p": "p.Thr324fs",
"transcript": "ENST00000939764.1",
"protein_id": "ENSP00000609823.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 355,
"cds_start": 970,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 1233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939764.1"
},
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.958_961delACAG",
"hgvs_p": "p.Thr320fs",
"transcript": "ENST00000939761.1",
"protein_id": "ENSP00000609820.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 351,
"cds_start": 958,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939761.1"
},
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.952_955delACAG",
"hgvs_p": "p.Thr318fs",
"transcript": "ENST00000939760.1",
"protein_id": "ENSP00000609819.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 349,
"cds_start": 952,
"cds_end": null,
"cds_length": 1050,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939760.1"
},
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.874_877delACAG",
"hgvs_p": "p.Thr292fs",
"transcript": "ENST00000939765.1",
"protein_id": "ENSP00000609824.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 323,
"cds_start": 874,
"cds_end": null,
"cds_length": 972,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 1130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939765.1"
},
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.847_850delACAG",
"hgvs_p": "p.Thr283fs",
"transcript": "ENST00000939757.1",
"protein_id": "ENSP00000609816.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 314,
"cds_start": 847,
"cds_end": null,
"cds_length": 945,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939757.1"
},
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.814_817delACAG",
"hgvs_p": "p.Thr272fs",
"transcript": "ENST00000939759.1",
"protein_id": "ENSP00000609818.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 303,
"cds_start": 814,
"cds_end": null,
"cds_length": 912,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939759.1"
},
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.550_553delACAG",
"hgvs_p": "p.Thr184fs",
"transcript": "ENST00000939762.1",
"protein_id": "ENSP00000609821.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 215,
"cds_start": 550,
"cds_end": null,
"cds_length": 648,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939762.1"
},
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.406_409delACAG",
"hgvs_p": "p.Thr136fs",
"transcript": "ENST00000939753.1",
"protein_id": "ENSP00000609812.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 167,
"cds_start": 406,
"cds_end": null,
"cds_length": 504,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939753.1"
},
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.331_334delACAG",
"hgvs_p": "p.Thr111fs",
"transcript": "ENST00000939752.1",
"protein_id": "ENSP00000609811.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 142,
"cds_start": 331,
"cds_end": null,
"cds_length": 429,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 1137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939752.1"
},
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.307_310delACAG",
"hgvs_p": "p.Thr103fs",
"transcript": "ENST00000939763.1",
"protein_id": "ENSP00000609822.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 134,
"cds_start": 307,
"cds_end": null,
"cds_length": 405,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 1039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939763.1"
},
{
"aa_ref": "TV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.232_235delACAG",
"hgvs_p": "p.Thr78fs",
"transcript": "ENST00000939756.1",
"protein_id": "ENSP00000609815.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 109,
"cds_start": 232,
"cds_end": null,
"cds_length": 330,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 1015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939756.1"
},
{
"aa_ref": "TV",
"aa_alt": null,
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},
{
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"aa_start": 343,
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},
{
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"splice_region_variant"
],
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"intron_rank": null,
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"gene_symbol": "POC1A",
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"hgvs_p": "p.Thr305fs",
"transcript": "XM_047447907.1",
"protein_id": "XP_047303863.1",
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"aa_start": 305,
"aa_end": null,
"aa_length": 336,
"cds_start": 913,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1152,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447907.1"
},
{
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"protein_coding": true,
"strand": false,
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"splice_region_variant"
],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "POC1A",
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"hgvs_c": "c.883_886delACAG",
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"transcript": "XM_011533561.2",
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"aa_end": null,
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"cds_start": 883,
"cds_end": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011533561.2"
},
{
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"splice_region_variant"
],
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"gene_symbol": "POC1A",
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"transcript": "XM_017006104.2",
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"biotype": "protein_coding",
"feature": "XM_017006104.2"
},
{
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"splice_region_variant"
],
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"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.769_772delACAG",
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"transcript": "XM_047447908.1",
"protein_id": "XP_047303864.1",
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"aa_start": 257,
"aa_end": null,
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"cds_start": 769,
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"biotype": "protein_coding",
"feature": "XM_047447908.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"hgvs_c": "c.680-4_680-1delACAG",
"hgvs_p": null,
"transcript": "ENST00000939758.1",
"protein_id": "ENSP00000609817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 257,
"cds_start": null,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1458,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939758.1"
}
],
"gene_symbol": "POC1A",
"gene_hgnc_id": 24488,
"dbsnp": null,
"frequency_reference_population": 6.847486e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84749e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 1,
"splice_prediction_selected": "Pathogenic",
"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": 4.823,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 1,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Moderate,PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_015426.5",
"gene_symbol": "POC1A",
"hgnc_id": 24488,
"effects": [
"frameshift_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1126_1129delACAG",
"hgvs_p": "p.Thr376fs"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}