← 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: 18-54280695-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=54280695&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 54280695,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_007195.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Ile196Ile",
"transcript": "NM_007195.3",
"protein_id": "NP_009126.2",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 740,
"cds_start": 588,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000579534.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007195.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Ile196Ile",
"transcript": "ENST00000579534.6",
"protein_id": "ENSP00000462664.1",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 740,
"cds_start": 588,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007195.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579534.6"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.279C>A",
"hgvs_p": "p.Ile93Ile",
"transcript": "ENST00000579434.5",
"protein_id": "ENSP00000462681.1",
"transcript_support_level": 1,
"aa_start": 93,
"aa_end": null,
"aa_length": 637,
"cds_start": 279,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579434.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.513C>A",
"hgvs_p": "p.Ile171Ile",
"transcript": "NM_001351632.2",
"protein_id": "NP_001338561.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 715,
"cds_start": 513,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351632.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.462C>A",
"hgvs_p": "p.Ile154Ile",
"transcript": "NM_001351610.1",
"protein_id": "NP_001338539.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 698,
"cds_start": 462,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351610.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.435C>A",
"hgvs_p": "p.Ile145Ile",
"transcript": "ENST00000930897.1",
"protein_id": "ENSP00000600956.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 689,
"cds_start": 435,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930897.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.402C>A",
"hgvs_p": "p.Ile134Ile",
"transcript": "ENST00000217800.9",
"protein_id": "ENSP00000217800.6",
"transcript_support_level": 5,
"aa_start": 134,
"aa_end": null,
"aa_length": 678,
"cds_start": 402,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000217800.9"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Ile128Ile",
"transcript": "NM_001351611.2",
"protein_id": "NP_001338540.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 672,
"cds_start": 384,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351611.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Ile128Ile",
"transcript": "NM_001351612.2",
"protein_id": "NP_001338541.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 672,
"cds_start": 384,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351612.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.297C>A",
"hgvs_p": "p.Ile99Ile",
"transcript": "ENST00000854650.1",
"protein_id": "ENSP00000524709.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 643,
"cds_start": 297,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854650.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.279C>A",
"hgvs_p": "p.Ile93Ile",
"transcript": "NM_001351614.2",
"protein_id": "NP_001338543.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 637,
"cds_start": 279,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351614.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.279C>A",
"hgvs_p": "p.Ile93Ile",
"transcript": "NM_001351615.2",
"protein_id": "NP_001338544.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 637,
"cds_start": 279,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351615.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.45C>A",
"hgvs_p": "p.Ile15Ile",
"transcript": "NM_001351617.2",
"protein_id": "NP_001338546.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 559,
"cds_start": 45,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351617.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.45C>A",
"hgvs_p": "p.Ile15Ile",
"transcript": "NM_001351618.2",
"protein_id": "NP_001338547.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 559,
"cds_start": 45,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351618.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.45C>A",
"hgvs_p": "p.Ile15Ile",
"transcript": "NM_001351619.2",
"protein_id": "NP_001338548.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 559,
"cds_start": 45,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351619.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Ile196Ile",
"transcript": "NM_001351621.1",
"protein_id": "NP_001338550.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 430,
"cds_start": 588,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351621.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.384C>A",
"hgvs_p": "p.Ile128Ile",
"transcript": "ENST00000583136.5",
"protein_id": "ENSP00000463071.1",
"transcript_support_level": 3,
"aa_start": 128,
"aa_end": null,
"aa_length": 221,
"cds_start": 384,
"cds_end": null,
"cds_length": 667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583136.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.456C>A",
"hgvs_p": "p.Ile152Ile",
"transcript": "ENST00000577612.5",
"protein_id": "ENSP00000464025.1",
"transcript_support_level": 3,
"aa_start": 152,
"aa_end": null,
"aa_length": 193,
"cds_start": 456,
"cds_end": null,
"cds_length": 583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577612.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.279C>A",
"hgvs_p": "p.Ile93Ile",
"transcript": "ENST00000580880.1",
"protein_id": "ENSP00000461983.1",
"transcript_support_level": 2,
"aa_start": 93,
"aa_end": null,
"aa_length": 144,
"cds_start": 279,
"cds_end": null,
"cds_length": 436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580880.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.279C>A",
"hgvs_p": "p.Ile93Ile",
"transcript": "XM_024451081.2",
"protein_id": "XP_024306849.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 637,
"cds_start": 279,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451081.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Ile196Ile",
"transcript": "XM_011525797.2",
"protein_id": "XP_011524099.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 430,
"cds_start": 588,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525797.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Ile196Ile",
"transcript": "XM_005258192.5",
"protein_id": "XP_005258249.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 401,
"cds_start": 588,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258192.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.560-2142C>A",
"hgvs_p": null,
"transcript": "NM_001351613.1",
"protein_id": "NP_001338542.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 661,
"cds_start": null,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351613.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.560-2142C>A",
"hgvs_p": null,
"transcript": "ENST00000406285.7",
"protein_id": "ENSP00000385196.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 661,
"cds_start": null,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406285.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.434-2142C>A",
"hgvs_p": null,
"transcript": "NM_001351616.1",
"protein_id": "NP_001338545.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 619,
"cds_start": null,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351616.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.434-2142C>A",
"hgvs_p": null,
"transcript": "ENST00000941394.1",
"protein_id": "ENSP00000611453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 619,
"cds_start": null,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941394.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.557+2842C>A",
"hgvs_p": null,
"transcript": "ENST00000854649.1",
"protein_id": "ENSP00000524708.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": null,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854649.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.17-2142C>A",
"hgvs_p": null,
"transcript": "NM_001351620.2",
"protein_id": "NP_001338549.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": null,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351620.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "n.2241C>A",
"hgvs_p": null,
"transcript": "ENST00000577971.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000577971.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "n.314C>A",
"hgvs_p": null,
"transcript": "ENST00000580905.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000580905.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "n.656C>A",
"hgvs_p": null,
"transcript": "NR_147257.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_147257.1"
}
],
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"dbsnp": "rs367942007",
"frequency_reference_population": 0.000006569957,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656996,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.33000001311302185,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.383,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_007195.3",
"gene_symbol": "POLI",
"hgnc_id": 9182,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.588C>A",
"hgvs_p": "p.Ile196Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}