← 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: 19-50417259-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50417259&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 50417259,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000440232.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3208A>C",
"hgvs_p": "p.Ile1070Leu",
"transcript": "NM_002691.4",
"protein_id": "NP_002682.2",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3208,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3253,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": "ENST00000440232.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3208A>C",
"hgvs_p": "p.Ile1070Leu",
"transcript": "ENST00000440232.7",
"protein_id": "ENSP00000406046.1",
"transcript_support_level": 1,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3208,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3253,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": "NM_002691.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3286A>C",
"hgvs_p": "p.Ile1096Leu",
"transcript": "ENST00000595904.6",
"protein_id": "ENSP00000472445.1",
"transcript_support_level": 1,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1133,
"cds_start": 3286,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 3331,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3208A>C",
"hgvs_p": "p.Ile1070Leu",
"transcript": "ENST00000599857.7",
"protein_id": "ENSP00000473052.1",
"transcript_support_level": 1,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3208,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3280,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000142539",
"gene_hgnc_id": null,
"hgvs_c": "c.415A>C",
"hgvs_p": "p.Ile139Leu",
"transcript": "ENST00000599632.1",
"protein_id": "ENSP00000473233.1",
"transcript_support_level": 5,
"aa_start": 139,
"aa_end": null,
"aa_length": 396,
"cds_start": 415,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 1265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3286A>C",
"hgvs_p": "p.Ile1096Leu",
"transcript": "NM_001308632.1",
"protein_id": "NP_001295561.1",
"transcript_support_level": null,
"aa_start": 1096,
"aa_end": null,
"aa_length": 1133,
"cds_start": 3286,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 3286,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3214A>C",
"hgvs_p": "p.Ile1072Leu",
"transcript": "ENST00000644560.2",
"protein_id": "ENSP00000495618.2",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1109,
"cds_start": 3214,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 3214,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3208A>C",
"hgvs_p": "p.Ile1070Leu",
"transcript": "NM_001256849.1",
"protein_id": "NP_001243778.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3208,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3280,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3208A>C",
"hgvs_p": "p.Ile1070Leu",
"transcript": "NM_001438212.1",
"protein_id": "NP_001425141.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3208,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3398,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3208A>C",
"hgvs_p": "p.Ile1070Leu",
"transcript": "NM_001438213.1",
"protein_id": "NP_001425142.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3208,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3379,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3208A>C",
"hgvs_p": "p.Ile1070Leu",
"transcript": "ENST00000593887.2",
"protein_id": "ENSP00000472607.2",
"transcript_support_level": 5,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3208,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3587,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3208A>C",
"hgvs_p": "p.Ile1070Leu",
"transcript": "ENST00000601098.6",
"protein_id": "ENSP00000472600.2",
"transcript_support_level": 3,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3208,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3384,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3208A>C",
"hgvs_p": "p.Ile1070Leu",
"transcript": "ENST00000687454.1",
"protein_id": "ENSP00000510052.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3208,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3272,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3136A>C",
"hgvs_p": "p.Ile1046Leu",
"transcript": "NM_001438210.1",
"protein_id": "NP_001425139.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3136,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3184,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3136A>C",
"hgvs_p": "p.Ile1046Leu",
"transcript": "NM_001438211.1",
"protein_id": "NP_001425140.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3136,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3181,
"cdna_end": null,
"cdna_length": 3364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3136A>C",
"hgvs_p": "p.Ile1046Leu",
"transcript": "ENST00000613923.6",
"protein_id": "ENSP00000481858.2",
"transcript_support_level": 5,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3136,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3197,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.779A>C",
"hgvs_p": "p.His260Pro",
"transcript": "ENST00000593981.1",
"protein_id": "ENSP00000469308.1",
"transcript_support_level": 5,
"aa_start": 260,
"aa_end": null,
"aa_length": 289,
"cds_start": 779,
"cds_end": null,
"cds_length": 871,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3208A>C",
"hgvs_p": "p.Ile1070Leu",
"transcript": "XM_011527038.2",
"protein_id": "XP_011525340.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3208,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3336,
"cdna_end": null,
"cdna_length": 3523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3208A>C",
"hgvs_p": "p.Ile1070Leu",
"transcript": "XM_047438947.1",
"protein_id": "XP_047294903.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3208,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 4200,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3136A>C",
"hgvs_p": "p.Ile1046Leu",
"transcript": "XM_047438948.1",
"protein_id": "XP_047294904.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3136,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3350,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3136A>C",
"hgvs_p": "p.Ile1046Leu",
"transcript": "XM_047438949.1",
"protein_id": "XP_047294905.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3136,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 4128,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3136A>C",
"hgvs_p": "p.Ile1046Leu",
"transcript": "XM_047438950.1",
"protein_id": "XP_047294906.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3136,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3263,
"cdna_end": null,
"cdna_length": 3450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.233A>C",
"hgvs_p": null,
"transcript": "ENST00000596221.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.552A>C",
"hgvs_p": null,
"transcript": "ENST00000597963.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.3399A>C",
"hgvs_p": null,
"transcript": "ENST00000600746.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.*75A>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.3150A>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.*75A>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.*196A>C",
"hgvs_p": null,
"transcript": "ENST00000593407.5",
"protein_id": "ENSP00000469115.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 287,
"cds_start": -4,
"cds_end": null,
"cds_length": 866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.*168A>C",
"hgvs_p": null,
"transcript": "ENST00000596648.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"dbsnp": "rs1060501801",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17481929063796997,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.106,
"revel_prediction": "Benign",
"alphamissense_score": 0.0935,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.968,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 2,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000440232.7",
"gene_symbol": "POLD1",
"hgnc_id": 9175,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3208A>C",
"hgvs_p": "p.Ile1070Leu"
},
{
"score": 2,
"benign_score": 2,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000599632.1",
"gene_symbol": "ENSG00000142539",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.415A>C",
"hgvs_p": "p.Ile139Leu"
}
],
"clinvar_disease": " 10, susceptibility to,Colorectal cancer,Hereditary cancer-predisposing syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Colorectal cancer, susceptibility to, 10|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}