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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: 12-132649858-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=132649858&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 132649858,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000320574.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "c.3614C>T",
"hgvs_p": "p.Pro1205Leu",
"transcript": "NM_006231.4",
"protein_id": "NP_006222.2",
"transcript_support_level": null,
"aa_start": 1205,
"aa_end": null,
"aa_length": 2286,
"cds_start": 3614,
"cds_end": null,
"cds_length": 6861,
"cdna_start": 3641,
"cdna_end": null,
"cdna_length": 7823,
"mane_select": "ENST00000320574.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "c.3614C>T",
"hgvs_p": "p.Pro1205Leu",
"transcript": "ENST00000320574.10",
"protein_id": "ENSP00000322570.5",
"transcript_support_level": 1,
"aa_start": 1205,
"aa_end": null,
"aa_length": 2286,
"cds_start": 3614,
"cds_end": null,
"cds_length": 6861,
"cdna_start": 3641,
"cdna_end": null,
"cdna_length": 7823,
"mane_select": "NM_006231.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "c.3533C>T",
"hgvs_p": "p.Pro1178Leu",
"transcript": "ENST00000535270.5",
"protein_id": "ENSP00000445753.1",
"transcript_support_level": 1,
"aa_start": 1178,
"aa_end": null,
"aa_length": 2259,
"cds_start": 3533,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 3546,
"cdna_end": null,
"cdna_length": 6800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*3365C>T",
"hgvs_p": null,
"transcript": "ENST00000537064.5",
"protein_id": "ENSP00000442578.1",
"transcript_support_level": 1,
"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": 8011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*3365C>T",
"hgvs_p": null,
"transcript": "ENST00000537064.5",
"protein_id": "ENSP00000442578.1",
"transcript_support_level": 1,
"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": 8011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "c.3614C>T",
"hgvs_p": "p.Pro1205Leu",
"transcript": "XM_011534795.4",
"protein_id": "XP_011533097.1",
"transcript_support_level": null,
"aa_start": 1205,
"aa_end": null,
"aa_length": 2298,
"cds_start": 3614,
"cds_end": null,
"cds_length": 6897,
"cdna_start": 3641,
"cdna_end": null,
"cdna_length": 7087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "c.2693C>T",
"hgvs_p": "p.Pro898Leu",
"transcript": "XM_011534797.4",
"protein_id": "XP_011533099.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1991,
"cds_start": 2693,
"cds_end": null,
"cds_length": 5976,
"cdna_start": 2787,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "c.3614C>T",
"hgvs_p": "p.Pro1205Leu",
"transcript": "XM_011534799.3",
"protein_id": "XP_011533101.1",
"transcript_support_level": null,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1811,
"cds_start": 3614,
"cds_end": null,
"cds_length": 5436,
"cdna_start": 3641,
"cdna_end": null,
"cdna_length": 5765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "c.3614C>T",
"hgvs_p": "p.Pro1205Leu",
"transcript": "XM_047429018.1",
"protein_id": "XP_047284974.1",
"transcript_support_level": null,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1803,
"cds_start": 3614,
"cds_end": null,
"cds_length": 5412,
"cdna_start": 3641,
"cdna_end": null,
"cdna_length": 5741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "c.602C>T",
"hgvs_p": "p.Pro201Leu",
"transcript": "XM_011534802.4",
"protein_id": "XP_011533104.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 1294,
"cds_start": 602,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 4087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.1237C>T",
"hgvs_p": null,
"transcript": "ENST00000416953.3",
"protein_id": null,
"transcript_support_level": 4,
"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": 5004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.212C>T",
"hgvs_p": null,
"transcript": "ENST00000503265.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*360C>T",
"hgvs_p": null,
"transcript": "ENST00000544870.6",
"protein_id": "ENSP00000479927.2",
"transcript_support_level": 3,
"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": 5435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*360C>T",
"hgvs_p": null,
"transcript": "ENST00000672002.1",
"protein_id": "ENSP00000500233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*3820C>T",
"hgvs_p": null,
"transcript": "ENST00000672742.1",
"protein_id": "ENSP00000500279.1",
"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": 8673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.1268C>T",
"hgvs_p": null,
"transcript": "ENST00000699981.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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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,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*2584C>T",
"hgvs_p": null,
"transcript": "ENST00000699982.1",
"protein_id": "ENSP00000514736.1",
"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,
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"cdna_length": 7636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*3288C>T",
"hgvs_p": null,
"transcript": "ENST00000699983.1",
"protein_id": "ENSP00000514737.1",
"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": 8340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*2584C>T",
"hgvs_p": null,
"transcript": "ENST00000699984.1",
"protein_id": "ENSP00000514738.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"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,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.3641C>T",
"hgvs_p": null,
"transcript": "XR_941395.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*360C>T",
"hgvs_p": null,
"transcript": "ENST00000544870.6",
"protein_id": "ENSP00000479927.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*360C>T",
"hgvs_p": null,
"transcript": "ENST00000672002.1",
"protein_id": "ENSP00000500233.1",
"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": 5455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*3820C>T",
"hgvs_p": null,
"transcript": "ENST00000672742.1",
"protein_id": "ENSP00000500279.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_plus": null,
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"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
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"exon_count": 48,
"intron_rank": null,
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"gene_symbol": "POLE",
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"hgvs_c": "n.*2584C>T",
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"transcript": "ENST00000699982.1",
"protein_id": "ENSP00000514736.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*3288C>T",
"hgvs_p": null,
"transcript": "ENST00000699983.1",
"protein_id": "ENSP00000514737.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 8340,
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"mane_plus": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"hgvs_c": "n.*2584C>T",
"hgvs_p": null,
"transcript": "ENST00000699984.1",
"protein_id": "ENSP00000514738.1",
"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": 7561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POLE",
"gene_hgnc_id": 9177,
"dbsnp": "rs772686048",
"frequency_reference_population": 0.000021066615,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.000019155,
"gnomad_genomes_af": 0.0000394296,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.022684186697006226,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.013,
"revel_prediction": "Benign",
"alphamissense_score": 0.0629,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.23,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000320574.10",
"gene_symbol": "POLE",
"hgnc_id": 9177,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3614C>T",
"hgvs_p": "p.Pro1205Leu"
}
],
"clinvar_disease": " 12, adrenal hypoplasia congenita, and immunodeficiency, genital anomalies, metaphyseal dysplasia, susceptibility to,Carcinoma of colon,Colorectal cancer,Facial dysmorphism-immunodeficiency-livedo-short stature syndrome,Hereditary cancer-predisposing syndrome,Intrauterine growth retardation,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1",
"phenotype_combined": "Carcinoma of colon|not provided|Facial dysmorphism-immunodeficiency-livedo-short stature syndrome;Colorectal cancer, susceptibility to, 12;Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}