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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: 12-132649797-G-GGCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=132649797&ref=G&alt=GGCT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 132649797,
"ref": "G",
"alt": "GGCT",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000320574.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.3672_3674dupAGC",
"hgvs_p": "p.Ala1225dup",
"transcript": "NM_006231.4",
"protein_id": "NP_006222.2",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 2286,
"cds_start": 3674,
"cds_end": null,
"cds_length": 6861,
"cdna_start": 3701,
"cdna_end": null,
"cdna_length": 7823,
"mane_select": "ENST00000320574.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.3672_3674dupAGC",
"hgvs_p": "p.Ala1225dup",
"transcript": "ENST00000320574.10",
"protein_id": "ENSP00000322570.5",
"transcript_support_level": 1,
"aa_start": 1225,
"aa_end": null,
"aa_length": 2286,
"cds_start": 3674,
"cds_end": null,
"cds_length": 6861,
"cdna_start": 3701,
"cdna_end": null,
"cdna_length": 7823,
"mane_select": "NM_006231.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.3591_3593dupAGC",
"hgvs_p": "p.Ala1198dup",
"transcript": "ENST00000535270.5",
"protein_id": "ENSP00000445753.1",
"transcript_support_level": 1,
"aa_start": 1198,
"aa_end": null,
"aa_length": 2259,
"cds_start": 3593,
"cds_end": null,
"cds_length": 6780,
"cdna_start": 3606,
"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.*3423_*3425dupAGC",
"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.*3423_*3425dupAGC",
"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": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.3672_3674dupAGC",
"hgvs_p": "p.Ala1225dup",
"transcript": "XM_011534795.4",
"protein_id": "XP_011533097.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 2298,
"cds_start": 3674,
"cds_end": null,
"cds_length": 6897,
"cdna_start": 3701,
"cdna_end": null,
"cdna_length": 7087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.2751_2753dupAGC",
"hgvs_p": "p.Ala918dup",
"transcript": "XM_011534797.4",
"protein_id": "XP_011533099.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1991,
"cds_start": 2753,
"cds_end": null,
"cds_length": 5976,
"cdna_start": 2847,
"cdna_end": null,
"cdna_length": 6233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.3672_3674dupAGC",
"hgvs_p": "p.Ala1225dup",
"transcript": "XM_011534799.3",
"protein_id": "XP_011533101.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1811,
"cds_start": 3674,
"cds_end": null,
"cds_length": 5436,
"cdna_start": 3701,
"cdna_end": null,
"cdna_length": 5765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.3672_3674dupAGC",
"hgvs_p": "p.Ala1225dup",
"transcript": "XM_047429018.1",
"protein_id": "XP_047284974.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1803,
"cds_start": 3674,
"cds_end": null,
"cds_length": 5412,
"cdna_start": 3701,
"cdna_end": null,
"cdna_length": 5741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"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.660_662dupAGC",
"hgvs_p": "p.Ala221dup",
"transcript": "XM_011534802.4",
"protein_id": "XP_011533104.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 1294,
"cds_start": 662,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 700,
"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.1295_1297dupAGC",
"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.270_272dupAGC",
"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.*418_*420dupAGC",
"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.*418_*420dupAGC",
"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": [
"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.*3878_*3880dupAGC",
"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.1326_1328dupAGC",
"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,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5450,
"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.*2642_*2644dupAGC",
"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,
"cdna_end": null,
"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.*3346_*3348dupAGC",
"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.*2642_*2644dupAGC",
"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
},
{
"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.3699_3701dupAGC",
"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,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4477,
"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.*418_*420dupAGC",
"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": [
"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.*418_*420dupAGC",
"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.*3878_*3880dupAGC",
"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": [
"3_prime_UTR_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.*2642_*2644dupAGC",
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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,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7636,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_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.*3346_*3348dupAGC",
"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": [
"3_prime_UTR_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.*2642_*2644dupAGC",
"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": "rs750939989",
"frequency_reference_population": 0.000016108228,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000150492,
"gnomad_genomes_af": 0.0000262795,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.624,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4_Supporting",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000320574.10",
"gene_symbol": "POLE",
"hgnc_id": 9177,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3672_3674dupAGC",
"hgvs_p": "p.Ala1225dup"
}
],
"clinvar_disease": " 12, susceptibility to,Colorectal cancer,Hereditary cancer-predisposing syndrome,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "Colorectal cancer, susceptibility to, 12|Hereditary cancer-predisposing syndrome|not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}