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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: 1-151404838-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151404838&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 151404838,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_015100.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4197C>T",
"hgvs_p": "p.Gly1399Gly",
"transcript": "NM_015100.4",
"protein_id": "NP_055915.2",
"transcript_support_level": null,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1410,
"cds_start": 4197,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 4541,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": "ENST00000271715.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4197C>T",
"hgvs_p": "p.Gly1399Gly",
"transcript": "ENST00000271715.7",
"protein_id": "ENSP00000271715.2",
"transcript_support_level": 1,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1410,
"cds_start": 4197,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 4541,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": "NM_015100.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4038C>T",
"hgvs_p": "p.Gly1346Gly",
"transcript": "ENST00000392723.6",
"protein_id": "ENSP00000376484.1",
"transcript_support_level": 1,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1357,
"cds_start": 4038,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 4067,
"cdna_end": null,
"cdna_length": 6181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.3912C>T",
"hgvs_p": "p.Gly1304Gly",
"transcript": "ENST00000368863.6",
"protein_id": "ENSP00000357856.2",
"transcript_support_level": 1,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3912,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 3941,
"cdna_end": null,
"cdna_length": 6054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4245C>T",
"hgvs_p": "p.Gly1415Gly",
"transcript": "ENST00000710270.1",
"protein_id": "ENSP00000518163.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 1426,
"cds_start": 4245,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 4541,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4218C>T",
"hgvs_p": "p.Gly1406Gly",
"transcript": "NM_001410860.1",
"protein_id": "NP_001397789.1",
"transcript_support_level": null,
"aa_start": 1406,
"aa_end": null,
"aa_length": 1417,
"cds_start": 4218,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 4338,
"cdna_end": null,
"cdna_length": 6452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4218C>T",
"hgvs_p": "p.Gly1406Gly",
"transcript": "ENST00000703168.1",
"protein_id": "ENSP00000515214.1",
"transcript_support_level": null,
"aa_start": 1406,
"aa_end": null,
"aa_length": 1417,
"cds_start": 4218,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 4314,
"cdna_end": null,
"cdna_length": 4350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4197C>T",
"hgvs_p": "p.Gly1399Gly",
"transcript": "ENST00000439756.2",
"protein_id": "ENSP00000390156.2",
"transcript_support_level": 3,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1410,
"cds_start": 4197,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 5776,
"cdna_end": null,
"cdna_length": 5812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4170C>T",
"hgvs_p": "p.Gly1390Gly",
"transcript": "NM_001194937.2",
"protein_id": "NP_001181866.1",
"transcript_support_level": null,
"aa_start": 1390,
"aa_end": null,
"aa_length": 1401,
"cds_start": 4170,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 4514,
"cdna_end": null,
"cdna_length": 6628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4170C>T",
"hgvs_p": "p.Gly1390Gly",
"transcript": "ENST00000409503.5",
"protein_id": "ENSP00000386836.1",
"transcript_support_level": 2,
"aa_start": 1390,
"aa_end": null,
"aa_length": 1401,
"cds_start": 4170,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 4199,
"cdna_end": null,
"cdna_length": 4813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4065C>T",
"hgvs_p": "p.Gly1355Gly",
"transcript": "ENST00000491586.5",
"protein_id": "ENSP00000418408.1",
"transcript_support_level": 5,
"aa_start": 1355,
"aa_end": null,
"aa_length": 1366,
"cds_start": 4065,
"cds_end": null,
"cds_length": 4101,
"cdna_start": 4094,
"cdna_end": null,
"cdna_length": 4130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4038C>T",
"hgvs_p": "p.Gly1346Gly",
"transcript": "NM_207171.2",
"protein_id": "NP_997054.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1357,
"cds_start": 4038,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 4039,
"cdna_end": null,
"cdna_length": 6153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4011C>T",
"hgvs_p": "p.Gly1337Gly",
"transcript": "NM_001194938.2",
"protein_id": "NP_001181867.1",
"transcript_support_level": null,
"aa_start": 1337,
"aa_end": null,
"aa_length": 1348,
"cds_start": 4011,
"cds_end": null,
"cds_length": 4047,
"cdna_start": 4355,
"cdna_end": null,
"cdna_length": 6469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4011C>T",
"hgvs_p": "p.Gly1337Gly",
"transcript": "ENST00000531094.5",
"protein_id": "ENSP00000431259.1",
"transcript_support_level": 2,
"aa_start": 1337,
"aa_end": null,
"aa_length": 1348,
"cds_start": 4011,
"cds_end": null,
"cds_length": 4047,
"cdna_start": 4076,
"cdna_end": null,
"cdna_length": 4415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.3912C>T",
"hgvs_p": "p.Gly1304Gly",
"transcript": "NM_145796.4",
"protein_id": "NP_665739.3",
"transcript_support_level": null,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3912,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 4256,
"cdna_end": null,
"cdna_length": 6370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4197C>T",
"hgvs_p": "p.Gly1399Gly",
"transcript": "XM_005245000.5",
"protein_id": "XP_005245057.1",
"transcript_support_level": null,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1410,
"cds_start": 4197,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 5074,
"cdna_end": null,
"cdna_length": 7188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4197C>T",
"hgvs_p": "p.Gly1399Gly",
"transcript": "XM_047450064.1",
"protein_id": "XP_047306020.1",
"transcript_support_level": null,
"aa_start": 1399,
"aa_end": null,
"aa_length": 1410,
"cds_start": 4197,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 4237,
"cdna_end": null,
"cdna_length": 6351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4191C>T",
"hgvs_p": "p.Gly1397Gly",
"transcript": "XM_047450065.1",
"protein_id": "XP_047306021.1",
"transcript_support_level": null,
"aa_start": 1397,
"aa_end": null,
"aa_length": 1408,
"cds_start": 4191,
"cds_end": null,
"cds_length": 4227,
"cdna_start": 4311,
"cdna_end": null,
"cdna_length": 6425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4170C>T",
"hgvs_p": "p.Gly1390Gly",
"transcript": "XM_017000746.2",
"protein_id": "XP_016856235.1",
"transcript_support_level": null,
"aa_start": 1390,
"aa_end": null,
"aa_length": 1401,
"cds_start": 4170,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 5047,
"cdna_end": null,
"cdna_length": 7161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4059C>T",
"hgvs_p": "p.Gly1353Gly",
"transcript": "XM_017000748.2",
"protein_id": "XP_016856237.2",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
"aa_length": 1364,
"cds_start": 4059,
"cds_end": null,
"cds_length": 4095,
"cdna_start": 4179,
"cdna_end": null,
"cdna_length": 6293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4038C>T",
"hgvs_p": "p.Gly1346Gly",
"transcript": "XM_005245005.3",
"protein_id": "XP_005245062.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1357,
"cds_start": 4038,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 4382,
"cdna_end": null,
"cdna_length": 6496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4032C>T",
"hgvs_p": "p.Gly1344Gly",
"transcript": "XM_047450068.1",
"protein_id": "XP_047306024.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1355,
"cds_start": 4032,
"cds_end": null,
"cds_length": 4068,
"cdna_start": 4152,
"cdna_end": null,
"cdna_length": 6266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.4011C>T",
"hgvs_p": "p.Gly1337Gly",
"transcript": "XM_047450069.1",
"protein_id": "XP_047306025.1",
"transcript_support_level": null,
"aa_start": 1337,
"aa_end": null,
"aa_length": 1348,
"cds_start": 4011,
"cds_end": null,
"cds_length": 4047,
"cdna_start": 4888,
"cdna_end": null,
"cdna_length": 7002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "c.2997C>T",
"hgvs_p": "p.Gly999Gly",
"transcript": "XM_047450070.1",
"protein_id": "XP_047306026.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2997,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 3116,
"cdna_end": null,
"cdna_length": 5230,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"hgvs_c": "n.4345C>T",
"hgvs_p": null,
"transcript": "ENST00000358476.7",
"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": 6459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POGZ",
"gene_hgnc_id": 18801,
"dbsnp": "rs761846366",
"frequency_reference_population": 0.000001240721,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84448e-7,
"gnomad_genomes_af": 0.00000662541,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"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": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.357,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_015100.4",
"gene_symbol": "POGZ",
"hgnc_id": 18801,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4197C>T",
"hgvs_p": "p.Gly1399Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}