← 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: 19-50407322-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50407322&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 50407322,
"ref": "C",
"alt": "G",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001308632.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "NM_002691.4",
"protein_id": "NP_002682.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000440232.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002691.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000440232.7",
"protein_id": "ENSP00000406046.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002691.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440232.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000595904.6",
"protein_id": "ENSP00000472445.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1133,
"cds_start": null,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595904.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000599857.7",
"protein_id": "ENSP00000473052.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599857.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1795-5C>G",
"hgvs_p": null,
"transcript": "ENST00000935846.1",
"protein_id": "ENSP00000605905.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1143,
"cds_start": null,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935846.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "NM_001308632.1",
"protein_id": "NP_001295561.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1133,
"cds_start": null,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308632.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000869782.1",
"protein_id": "ENSP00000539841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1133,
"cds_start": null,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869782.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000969650.1",
"protein_id": "ENSP00000639709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1133,
"cds_start": null,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969650.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000644560.2",
"protein_id": "ENSP00000495618.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1109,
"cds_start": null,
"cds_end": null,
"cds_length": 3330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644560.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "NM_001256849.1",
"protein_id": "NP_001243778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256849.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "NM_001438212.1",
"protein_id": "NP_001425141.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438212.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "NM_001438213.1",
"protein_id": "NP_001425142.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438213.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000593887.2",
"protein_id": "ENSP00000472607.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593887.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000601098.6",
"protein_id": "ENSP00000472600.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601098.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000687454.1",
"protein_id": "ENSP00000510052.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687454.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000869780.1",
"protein_id": "ENSP00000539839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869780.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000869783.1",
"protein_id": "ENSP00000539842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869783.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000935843.1",
"protein_id": "ENSP00000605902.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935843.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000935844.1",
"protein_id": "ENSP00000605903.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935844.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000935847.1",
"protein_id": "ENSP00000605906.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935847.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000935848.1",
"protein_id": "ENSP00000605907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935848.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000935849.1",
"protein_id": "ENSP00000605908.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935849.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000935854.1",
"protein_id": "ENSP00000605913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935854.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000935856.1",
"protein_id": "ENSP00000605915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935856.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000935858.1",
"protein_id": "ENSP00000605917.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935858.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000935859.1",
"protein_id": "ENSP00000605918.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935859.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000969649.1",
"protein_id": "ENSP00000639708.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969649.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000935857.1",
"protein_id": "ENSP00000605916.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1101,
"cds_start": null,
"cds_end": null,
"cds_length": 3306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935857.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000869777.1",
"protein_id": "ENSP00000539836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1099,
"cds_start": null,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869777.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000869779.1",
"protein_id": "ENSP00000539838.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1099,
"cds_start": null,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869779.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000935850.1",
"protein_id": "ENSP00000605909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1099,
"cds_start": null,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935850.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1618-5C>G",
"hgvs_p": null,
"transcript": "ENST00000869778.1",
"protein_id": "ENSP00000539837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1084,
"cds_start": null,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869778.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "NM_001438210.1",
"protein_id": "NP_001425139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1083,
"cds_start": null,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438210.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "NM_001438211.1",
"protein_id": "NP_001425140.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1083,
"cds_start": null,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438211.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000613923.6",
"protein_id": "ENSP00000481858.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1083,
"cds_start": null,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613923.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000869776.1",
"protein_id": "ENSP00000539835.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1083,
"cds_start": null,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869776.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000935855.1",
"protein_id": "ENSP00000605914.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1083,
"cds_start": null,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935855.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000969648.1",
"protein_id": "ENSP00000639707.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1083,
"cds_start": null,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969648.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000935845.1",
"protein_id": "ENSP00000605904.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1075,
"cds_start": null,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935845.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000935852.1",
"protein_id": "ENSP00000605911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": null,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935852.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1561-5C>G",
"hgvs_p": null,
"transcript": "ENST00000935851.1",
"protein_id": "ENSP00000605910.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1065,
"cds_start": null,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935851.1"
},
{
"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": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1529+305C>G",
"hgvs_p": null,
"transcript": "ENST00000935853.1",
"protein_id": "ENSP00000605912.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1025,
"cds_start": null,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935853.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1414-5C>G",
"hgvs_p": null,
"transcript": "ENST00000869781.1",
"protein_id": "ENSP00000539840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1016,
"cds_start": null,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869781.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "XM_011527038.2",
"protein_id": "XP_011525340.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527038.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "XM_047438947.1",
"protein_id": "XP_047294903.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": null,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438947.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "XM_047438948.1",
"protein_id": "XP_047294904.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1083,
"cds_start": null,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438948.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "XM_047438949.1",
"protein_id": "XP_047294905.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1083,
"cds_start": null,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438949.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null,
"transcript": "XM_047438950.1",
"protein_id": "XP_047294906.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1083,
"cds_start": null,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.1878-5C>G",
"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": null,
"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.1687-5C>G",
"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": null,
"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.1687-5C>G",
"hgvs_p": null,
"transcript": "ENST00000643407.1",
"protein_id": "ENSP00000496078.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000643407.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.1732-5C>G",
"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": null,
"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.1756-5C>G",
"hgvs_p": null,
"transcript": "XR_935835.3",
"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": "XR_935835.3"
}
],
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"dbsnp": "rs199733325",
"frequency_reference_population": 0.0000065696117,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656961,
"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": -0.7599999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.024000000208616257,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.956,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000830268536628378,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001308632.1",
"gene_symbol": "POLD1",
"hgnc_id": 9175,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1687-5C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}