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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-50415471-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50415471&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 50415471,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000440232.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2598C>T",
"hgvs_p": "p.Asp866Asp",
"transcript": "NM_002691.4",
"protein_id": "NP_002682.2",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2598,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 2643,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": "ENST00000440232.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2598C>T",
"hgvs_p": "p.Asp866Asp",
"transcript": "ENST00000440232.7",
"protein_id": "ENSP00000406046.1",
"transcript_support_level": 1,
"aa_start": 866,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2598,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 2643,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": "NM_002691.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2676C>T",
"hgvs_p": "p.Asp892Asp",
"transcript": "ENST00000595904.6",
"protein_id": "ENSP00000472445.1",
"transcript_support_level": 1,
"aa_start": 892,
"aa_end": null,
"aa_length": 1133,
"cds_start": 2676,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 2721,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2598C>T",
"hgvs_p": "p.Asp866Asp",
"transcript": "ENST00000599857.7",
"protein_id": "ENSP00000473052.1",
"transcript_support_level": 1,
"aa_start": 866,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2598,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 2670,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2676C>T",
"hgvs_p": "p.Asp892Asp",
"transcript": "NM_001308632.1",
"protein_id": "NP_001295561.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 1133,
"cds_start": 2676,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 2676,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2604C>T",
"hgvs_p": "p.Asp868Asp",
"transcript": "ENST00000644560.2",
"protein_id": "ENSP00000495618.2",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1109,
"cds_start": 2604,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 2604,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2598C>T",
"hgvs_p": "p.Asp866Asp",
"transcript": "NM_001256849.1",
"protein_id": "NP_001243778.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2598,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 2670,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2598C>T",
"hgvs_p": "p.Asp866Asp",
"transcript": "NM_001438212.1",
"protein_id": "NP_001425141.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2598,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 2788,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2598C>T",
"hgvs_p": "p.Asp866Asp",
"transcript": "NM_001438213.1",
"protein_id": "NP_001425142.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2598,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 2769,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2598C>T",
"hgvs_p": "p.Asp866Asp",
"transcript": "ENST00000593887.2",
"protein_id": "ENSP00000472607.2",
"transcript_support_level": 5,
"aa_start": 866,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2598,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 2977,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2598C>T",
"hgvs_p": "p.Asp866Asp",
"transcript": "ENST00000601098.6",
"protein_id": "ENSP00000472600.2",
"transcript_support_level": 3,
"aa_start": 866,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2598,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 2774,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2598C>T",
"hgvs_p": "p.Asp866Asp",
"transcript": "ENST00000687454.1",
"protein_id": "ENSP00000510052.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2598,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 2662,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2526C>T",
"hgvs_p": "p.Asp842Asp",
"transcript": "NM_001438210.1",
"protein_id": "NP_001425139.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2526,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 2574,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2526C>T",
"hgvs_p": "p.Asp842Asp",
"transcript": "NM_001438211.1",
"protein_id": "NP_001425140.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2526,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 2571,
"cdna_end": null,
"cdna_length": 3364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2526C>T",
"hgvs_p": "p.Asp842Asp",
"transcript": "ENST00000613923.6",
"protein_id": "ENSP00000481858.2",
"transcript_support_level": 5,
"aa_start": 842,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2526,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 2587,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.222C>T",
"hgvs_p": "p.Asp74Asp",
"transcript": "ENST00000593981.1",
"protein_id": "ENSP00000469308.1",
"transcript_support_level": 5,
"aa_start": 74,
"aa_end": null,
"aa_length": 289,
"cds_start": 222,
"cds_end": null,
"cds_length": 871,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.366C>T",
"hgvs_p": "p.Asp122Asp",
"transcript": "ENST00000593407.5",
"protein_id": "ENSP00000469115.1",
"transcript_support_level": 5,
"aa_start": 122,
"aa_end": null,
"aa_length": 287,
"cds_start": 366,
"cds_end": null,
"cds_length": 866,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2598C>T",
"hgvs_p": "p.Asp866Asp",
"transcript": "XM_011527038.2",
"protein_id": "XP_011525340.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2598,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 2726,
"cdna_end": null,
"cdna_length": 3523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2598C>T",
"hgvs_p": "p.Asp866Asp",
"transcript": "XM_047438947.1",
"protein_id": "XP_047294903.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2598,
"cds_end": null,
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"cdna_start": 3590,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2526C>T",
"hgvs_p": "p.Asp842Asp",
"transcript": "XM_047438948.1",
"protein_id": "XP_047294904.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2526,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 2740,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2526C>T",
"hgvs_p": "p.Asp842Asp",
"transcript": "XM_047438949.1",
"protein_id": "XP_047294905.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2526,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3518,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.2526C>T",
"hgvs_p": "p.Asp842Asp",
"transcript": "XM_047438950.1",
"protein_id": "XP_047294906.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 1083,
"cds_start": 2526,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 2653,
"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": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.2789C>T",
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"transcript_support_level": 5,
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"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.2598C>T",
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"transcript": "ENST00000600859.5",
"protein_id": "ENSP00000470726.1",
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
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"hgvs_c": "n.*385C>T",
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"transcript": "ENST00000643407.1",
"protein_id": "ENSP00000496078.1",
"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": 3233,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.2643C>T",
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"transcript": "NR_046402.2",
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "n.*385C>T",
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"transcript": "ENST00000643407.1",
"protein_id": "ENSP00000496078.1",
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_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.-38C>T",
"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": "rs773567499",
"frequency_reference_population": 0.000060136543,
"hom_count_reference_population": 0,
"allele_count_reference_population": 97,
"gnomad_exomes_af": 0.0000643488,
"gnomad_genomes_af": 0.0000197099,
"gnomad_exomes_ac": 94,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.363,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000440232.7",
"gene_symbol": "POLD1",
"hgnc_id": 9175,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2598C>T",
"hgvs_p": "p.Asp866Asp"
}
],
"clinvar_disease": " 10, susceptibility to,Colorectal cancer,Hereditary cancer-predisposing syndrome,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5",
"phenotype_combined": "not provided|Colorectal cancer, susceptibility to, 10|Hereditary cancer-predisposing syndrome|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}