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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: 17-40818973-CCG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40818973&ref=CCG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 40818973,
"ref": "CCG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000269576.6",
"consequences": [
{
"aa_ref": "GG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10",
"gene_hgnc_id": 6413,
"hgvs_c": "c.1560_1561delCG",
"hgvs_p": "p.Gly521fs",
"transcript": "NM_000421.5",
"protein_id": "NP_000412.4",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 584,
"cds_start": 1560,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 2143,
"mane_select": "ENST00000269576.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GG",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10",
"gene_hgnc_id": 6413,
"hgvs_c": "c.1560_1561delCG",
"hgvs_p": "p.Gly521fs",
"transcript": "ENST00000269576.6",
"protein_id": "ENSP00000269576.5",
"transcript_support_level": 1,
"aa_start": 520,
"aa_end": null,
"aa_length": 584,
"cds_start": 1560,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 2143,
"mane_select": "NM_000421.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10",
"gene_hgnc_id": 6413,
"hgvs_c": "c.1560_1561delCG",
"hgvs_p": "p.Gly521fs",
"transcript": "NM_001379366.1",
"protein_id": "NP_001366295.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 624,
"cds_start": 1560,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10",
"gene_hgnc_id": 6413,
"hgvs_c": "c.1560_1561delCG",
"hgvs_p": "p.Gly521fs",
"transcript": "ENST00000635956.2",
"protein_id": "ENSP00000490524.2",
"transcript_support_level": 2,
"aa_start": 520,
"aa_end": null,
"aa_length": 624,
"cds_start": 1560,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-124_-123delCG",
"hgvs_p": null,
"transcript": "ENST00000301665.10",
"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": 2086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-97_-96delCG",
"hgvs_p": null,
"transcript": "ENST00000436612.7",
"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": 1164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-175_-174delCG",
"hgvs_p": null,
"transcript": "ENST00000654043.2",
"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": 1195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-205_-204delCG",
"hgvs_p": null,
"transcript": "ENST00000662074.2",
"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": 635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-163_-162delCG",
"hgvs_p": null,
"transcript": "ENST00000666187.2",
"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": 2216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-124_-123delCG",
"hgvs_p": null,
"transcript": "ENST00000668620.2",
"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": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-128_-127delCG",
"hgvs_p": null,
"transcript": "ENST00000692645.3",
"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": 1086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-163_-162delCG",
"hgvs_p": null,
"transcript": "ENST00000719695.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-166_-165delCG",
"hgvs_p": null,
"transcript": "ENST00000719696.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 604,
"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-205_-204delCG",
"hgvs_p": null,
"transcript": "ENST00000719697.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "KRT10-AS1",
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"hgvs_c": "n.-142_-141delCG",
"hgvs_p": null,
"transcript": "ENST00000719698.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1082,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-163_-162delCG",
"hgvs_p": null,
"transcript": "ENST00000719699.1",
"protein_id": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-163_-162delCG",
"hgvs_p": null,
"transcript": "ENST00000719700.1",
"protein_id": null,
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"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-163_-162delCG",
"hgvs_p": null,
"transcript": "ENST00000719701.1",
"protein_id": null,
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"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-171_-170delCG",
"hgvs_p": null,
"transcript": "ENST00000719702.1",
"protein_id": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "KRT10-AS1",
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},
{
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"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-194_-193delCG",
"hgvs_p": null,
"transcript": "ENST00000719704.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-211_-210delCG",
"hgvs_p": null,
"transcript": "ENST00000719705.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-207_-206delCG",
"hgvs_p": null,
"transcript": "ENST00000719706.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-221_-220delCG",
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"transcript": "ENST00000719707.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_length": 1072,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-211_-210delCG",
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"transcript": "NR_160886.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 2073,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-171_-170delCG",
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"transcript": "NR_160887.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 2004,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT10-AS1",
"gene_hgnc_id": 28305,
"hgvs_c": "n.-171_-170delCG",
"hgvs_p": null,
"transcript": "NR_160888.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KRT10",
"gene_hgnc_id": 6413,
"dbsnp": "rs267607384",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"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": 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": -1.161,
"phylop100way_prediction": "Benign",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000269576.6",
"gene_symbol": "KRT10",
"hgnc_id": 6413,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1560_1561delCG",
"hgvs_p": "p.Gly521fs"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000301665.10",
"gene_symbol": "KRT10-AS1",
"hgnc_id": 28305,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-124_-123delCG",
"hgvs_p": null
}
],
"clinvar_disease": "Congenital reticular ichthyosiform erythroderma,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Congenital reticular ichthyosiform erythroderma|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}