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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: 20-49066193-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=49066193&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 49066193,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001316.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "NM_001316.4",
"protein_id": "NP_001307.2",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 971,
"cds_start": 230,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262982.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000262982.3",
"protein_id": "ENSP00000262982.2",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 971,
"cds_start": 230,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001316.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262982.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000889064.1",
"protein_id": "ENSP00000559123.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 971,
"cds_start": 230,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889064.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000933032.1",
"protein_id": "ENSP00000603091.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 971,
"cds_start": 230,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933032.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000933040.1",
"protein_id": "ENSP00000603099.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 971,
"cds_start": 230,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933040.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000933031.1",
"protein_id": "ENSP00000603090.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 970,
"cds_start": 230,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933031.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000966735.1",
"protein_id": "ENSP00000636794.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 968,
"cds_start": 230,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966735.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000889066.1",
"protein_id": "ENSP00000559125.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 963,
"cds_start": 230,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889066.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000889068.1",
"protein_id": "ENSP00000559127.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 957,
"cds_start": 230,
"cds_end": null,
"cds_length": 2874,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889068.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.179T>C",
"hgvs_p": "p.Val60Ala",
"transcript": "ENST00000889063.1",
"protein_id": "ENSP00000559122.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 954,
"cds_start": 179,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889063.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000889062.1",
"protein_id": "ENSP00000559121.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 948,
"cds_start": 230,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889062.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "NM_001362762.2",
"protein_id": "NP_001349691.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 945,
"cds_start": 230,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362762.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000933038.1",
"protein_id": "ENSP00000603097.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 945,
"cds_start": 230,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933038.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000889070.1",
"protein_id": "ENSP00000559129.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 943,
"cds_start": 230,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889070.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "NM_001256135.2",
"protein_id": "NP_001243064.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 915,
"cds_start": 230,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256135.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000396192.7",
"protein_id": "ENSP00000379495.3",
"transcript_support_level": 5,
"aa_start": 77,
"aa_end": null,
"aa_length": 915,
"cds_start": 230,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396192.7"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000889069.1",
"protein_id": "ENSP00000559128.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 915,
"cds_start": 230,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889069.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000889067.1",
"protein_id": "ENSP00000559126.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 904,
"cds_start": 230,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889067.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000933039.1",
"protein_id": "ENSP00000603098.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 890,
"cds_start": 230,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933039.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000889065.1",
"protein_id": "ENSP00000559124.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 858,
"cds_start": 230,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889065.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSE1L",
"gene_hgnc_id": 2431,
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala",
"transcript": "ENST00000933037.1",
"protein_id": "ENSP00000603096.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 851,
"cds_start": 230,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933037.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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{
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"protein_coding": true,
"strand": true,
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"splice_region_variant"
],
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},
{
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"protein_coding": true,
"strand": true,
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"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
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"biotype": "protein_coding",
"feature": "ENST00000933035.1"
},
{
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"protein_coding": true,
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"consequences": [
"intron_variant"
],
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"gene_symbol": "CSE1L",
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"biotype": "protein_coding",
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{
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"intron_variant"
],
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"gene_symbol": "CSE1L",
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"transcript": "ENST00000933033.1",
"protein_id": "ENSP00000603092.1",
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"biotype": "protein_coding",
"feature": "ENST00000933033.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "CSE1L",
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"hgvs_c": "n.301-2617T>C",
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"transcript": "NR_045796.2",
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"cds_end": null,
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"cdna_end": null,
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"biotype": "pseudogene",
"feature": "NR_045796.2"
}
],
"gene_symbol": "CSE1L",
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"dbsnp": "rs200581090",
"frequency_reference_population": 0.000002736596,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000027366,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1720099151134491,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.4620000123977661,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.098,
"revel_prediction": "Benign",
"alphamissense_score": 0.146,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.37,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.189890039012529,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001316.4",
"gene_symbol": "CSE1L",
"hgnc_id": 2431,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.230T>C",
"hgvs_p": "p.Val77Ala"
}
],
"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
}