← 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: 19-50417894-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50417894&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 50417894,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001308632.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "NM_002691.4",
"protein_id": "NP_002682.2",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3316,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": "ENST00000440232.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002691.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "ENST00000440232.7",
"protein_id": "ENSP00000406046.1",
"transcript_support_level": 1,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3316,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": "NM_002691.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440232.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3349G>A",
"hgvs_p": "p.Asp1117Asn",
"transcript": "ENST00000595904.6",
"protein_id": "ENSP00000472445.1",
"transcript_support_level": 1,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1133,
"cds_start": 3349,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 3394,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595904.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "ENST00000599857.7",
"protein_id": "ENSP00000473052.1",
"transcript_support_level": 1,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3343,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599857.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000142539",
"gene_hgnc_id": null,
"hgvs_c": "c.425+625G>A",
"hgvs_p": null,
"transcript": "ENST00000599632.1",
"protein_id": "ENSP00000473233.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": null,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599632.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3379G>A",
"hgvs_p": "p.Asp1127Asn",
"transcript": "ENST00000935846.1",
"protein_id": "ENSP00000605905.1",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3379,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 3461,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935846.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3349G>A",
"hgvs_p": "p.Asp1117Asn",
"transcript": "NM_001308632.1",
"protein_id": "NP_001295561.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1133,
"cds_start": 3349,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 3349,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308632.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3349G>A",
"hgvs_p": "p.Asp1117Asn",
"transcript": "ENST00000869782.1",
"protein_id": "ENSP00000539841.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1133,
"cds_start": 3349,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 3394,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869782.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3349G>A",
"hgvs_p": "p.Asp1117Asn",
"transcript": "ENST00000969650.1",
"protein_id": "ENSP00000639709.1",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1133,
"cds_start": 3349,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 3609,
"cdna_end": null,
"cdna_length": 3729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969650.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3277G>A",
"hgvs_p": "p.Asp1093Asn",
"transcript": "ENST00000644560.2",
"protein_id": "ENSP00000495618.2",
"transcript_support_level": null,
"aa_start": 1093,
"aa_end": null,
"aa_length": 1109,
"cds_start": 3277,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 3277,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644560.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "NM_001256849.1",
"protein_id": "NP_001243778.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3343,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256849.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "NM_001438212.1",
"protein_id": "NP_001425141.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3461,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438212.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "NM_001438213.1",
"protein_id": "NP_001425142.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3442,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438213.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "ENST00000593887.2",
"protein_id": "ENSP00000472607.2",
"transcript_support_level": 5,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3650,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593887.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "ENST00000601098.6",
"protein_id": "ENSP00000472600.2",
"transcript_support_level": 3,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3447,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601098.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "ENST00000687454.1",
"protein_id": "ENSP00000510052.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3335,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687454.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "ENST00000869780.1",
"protein_id": "ENSP00000539839.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3430,
"cdna_end": null,
"cdna_length": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869780.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "ENST00000869783.1",
"protein_id": "ENSP00000539842.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3508,
"cdna_end": null,
"cdna_length": 3627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869783.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "ENST00000935843.1",
"protein_id": "ENSP00000605902.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 4307,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935843.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "ENST00000935844.1",
"protein_id": "ENSP00000605903.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3523,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935844.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "ENST00000935847.1",
"protein_id": "ENSP00000605906.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3461,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935847.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "ENST00000935848.1",
"protein_id": "ENSP00000605907.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3469,
"cdna_end": null,
"cdna_length": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935848.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "ENST00000935849.1",
"protein_id": "ENSP00000605908.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3600,
"cdna_end": null,
"cdna_length": 3719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935849.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "ENST00000935854.1",
"protein_id": "ENSP00000605913.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3429,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935854.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "ENST00000935856.1",
"protein_id": "ENSP00000605915.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3510,
"cdna_end": null,
"cdna_length": 3631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935856.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "ENST00000935858.1",
"protein_id": "ENSP00000605917.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3616,
"cdna_end": null,
"cdna_length": 3734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935858.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "ENST00000935859.1",
"protein_id": "ENSP00000605918.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3635,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935859.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "ENST00000969649.1",
"protein_id": "ENSP00000639708.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3412,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969649.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3253G>A",
"hgvs_p": "p.Asp1085Asn",
"transcript": "ENST00000935857.1",
"protein_id": "ENSP00000605916.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1101,
"cds_start": 3253,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 3280,
"cdna_end": null,
"cdna_length": 3395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935857.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3247G>A",
"hgvs_p": "p.Asp1083Asn",
"transcript": "ENST00000869777.1",
"protein_id": "ENSP00000539836.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1099,
"cds_start": 3247,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 3317,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869777.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3247G>A",
"hgvs_p": "p.Asp1083Asn",
"transcript": "ENST00000869779.1",
"protein_id": "ENSP00000539838.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1099,
"cds_start": 3247,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 3306,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869779.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3247G>A",
"hgvs_p": "p.Asp1083Asn",
"transcript": "ENST00000935850.1",
"protein_id": "ENSP00000605909.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1099,
"cds_start": 3247,
"cds_end": null,
"cds_length": 3300,
"cdna_start": 3429,
"cdna_end": null,
"cdna_length": 3549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935850.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3202G>A",
"hgvs_p": "p.Asp1068Asn",
"transcript": "ENST00000869778.1",
"protein_id": "ENSP00000539837.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3202,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 3258,
"cdna_end": null,
"cdna_length": 3378,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869778.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3199G>A",
"hgvs_p": "p.Asp1067Asn",
"transcript": "NM_001438210.1",
"protein_id": "NP_001425139.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3199,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3247,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438210.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3199G>A",
"hgvs_p": "p.Asp1067Asn",
"transcript": "NM_001438211.1",
"protein_id": "NP_001425140.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3199,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3244,
"cdna_end": null,
"cdna_length": 3364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438211.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3199G>A",
"hgvs_p": "p.Asp1067Asn",
"transcript": "ENST00000613923.6",
"protein_id": "ENSP00000481858.2",
"transcript_support_level": 5,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3199,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3260,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613923.6"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3199G>A",
"hgvs_p": "p.Asp1067Asn",
"transcript": "ENST00000869776.1",
"protein_id": "ENSP00000539835.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3199,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3284,
"cdna_end": null,
"cdna_length": 3406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869776.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3199G>A",
"hgvs_p": "p.Asp1067Asn",
"transcript": "ENST00000935855.1",
"protein_id": "ENSP00000605914.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3199,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3383,
"cdna_end": null,
"cdna_length": 3503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935855.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3199G>A",
"hgvs_p": "p.Asp1067Asn",
"transcript": "ENST00000969648.1",
"protein_id": "ENSP00000639707.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3199,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3372,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969648.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3175G>A",
"hgvs_p": "p.Asp1059Asn",
"transcript": "ENST00000935845.1",
"protein_id": "ENSP00000605904.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1075,
"cds_start": 3175,
"cds_end": null,
"cds_length": 3228,
"cdna_start": 3259,
"cdna_end": null,
"cdna_length": 3381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935845.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3154G>A",
"hgvs_p": "p.Asp1052Asn",
"transcript": "ENST00000935852.1",
"protein_id": "ENSP00000605911.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1068,
"cds_start": 3154,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 3201,
"cdna_end": null,
"cdna_length": 3323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935852.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3145G>A",
"hgvs_p": "p.Asp1049Asn",
"transcript": "ENST00000935851.1",
"protein_id": "ENSP00000605910.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1065,
"cds_start": 3145,
"cds_end": null,
"cds_length": 3198,
"cdna_start": 3196,
"cdna_end": null,
"cdna_length": 3318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935851.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3025G>A",
"hgvs_p": "p.Asp1009Asn",
"transcript": "ENST00000935853.1",
"protein_id": "ENSP00000605912.1",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1025,
"cds_start": 3025,
"cds_end": null,
"cds_length": 3078,
"cdna_start": 3073,
"cdna_end": null,
"cdna_length": 3193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935853.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2998G>A",
"hgvs_p": "p.Asp1000Asn",
"transcript": "ENST00000869781.1",
"protein_id": "ENSP00000539840.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2998,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 3046,
"cdna_end": null,
"cdna_length": 3161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869781.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.842G>A",
"hgvs_p": "p.Arg281Lys",
"transcript": "ENST00000593981.1",
"protein_id": "ENSP00000469308.1",
"transcript_support_level": 5,
"aa_start": 281,
"aa_end": null,
"aa_length": 289,
"cds_start": 842,
"cds_end": null,
"cds_length": 871,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593981.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "XM_011527038.2",
"protein_id": "XP_011525340.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3399,
"cdna_end": null,
"cdna_length": 3523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527038.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3271G>A",
"hgvs_p": "p.Asp1091Asn",
"transcript": "XM_047438947.1",
"protein_id": "XP_047294903.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3271,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 4263,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438947.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3199G>A",
"hgvs_p": "p.Asp1067Asn",
"transcript": "XM_047438948.1",
"protein_id": "XP_047294904.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3199,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3413,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438948.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3199G>A",
"hgvs_p": "p.Asp1067Asn",
"transcript": "XM_047438949.1",
"protein_id": "XP_047294905.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3199,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 4191,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438949.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3199G>A",
"hgvs_p": "p.Asp1067Asn",
"transcript": "XM_047438950.1",
"protein_id": "XP_047294906.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3199,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3326,
"cdna_end": null,
"cdna_length": 3450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438950.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.296G>A",
"hgvs_p": null,
"transcript": "ENST00000596221.1",
"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": 412,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000596221.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.615G>A",
"hgvs_p": null,
"transcript": "ENST00000597963.5",
"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": 737,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000597963.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.3462G>A",
"hgvs_p": null,
"transcript": "ENST00000600746.2",
"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": 3565,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000600746.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.*138G>A",
"hgvs_p": null,
"transcript": "ENST00000600859.5",
"protein_id": "ENSP00000470726.1",
"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": 3474,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000600859.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.3213G>A",
"hgvs_p": null,
"transcript": "NR_046402.2",
"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": 3333,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_046402.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.*138G>A",
"hgvs_p": null,
"transcript": "ENST00000600859.5",
"protein_id": "ENSP00000470726.1",
"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": 3474,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000600859.5"
}
],
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"dbsnp": "rs946088822",
"frequency_reference_population": 0.000013028427,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.00000548038,
"gnomad_genomes_af": 0.0000854667,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19206172227859497,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.133,
"revel_prediction": "Benign",
"alphamissense_score": 0.1427,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.475,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_001308632.1",
"gene_symbol": "POLD1",
"hgnc_id": 9175,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3349G>A",
"hgvs_p": "p.Asp1117Asn"
},
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000599632.1",
"gene_symbol": "ENSG00000142539",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.425+625G>A",
"hgvs_p": null
}
],
"clinvar_disease": " 10, susceptibility to,Colorectal cancer,Hereditary cancer,Hereditary cancer-predisposing syndrome,Immunodeficiency 120,Mandibular hypoplasia-deafness-progeroid syndrome,POLD1-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:2",
"phenotype_combined": "Colorectal cancer, susceptibility to, 10|Hereditary cancer-predisposing syndrome|not provided|POLD1-related disorder|Colorectal cancer, susceptibility to, 10;Immunodeficiency 120;Mandibular hypoplasia-deafness-progeroid syndrome|Hereditary cancer",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}