← 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: 1-151404816-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=151404816&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 151404816,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015100.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4219C>A",
"hgvs_p": "p.Leu1407Met",
"transcript": "NM_015100.4",
"protein_id": "NP_055915.2",
"transcript_support_level": null,
"aa_start": 1407,
"aa_end": null,
"aa_length": 1410,
"cds_start": 4219,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 4563,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": "ENST00000271715.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4219C>A",
"hgvs_p": "p.Leu1407Met",
"transcript": "ENST00000271715.7",
"protein_id": "ENSP00000271715.2",
"transcript_support_level": 1,
"aa_start": 1407,
"aa_end": null,
"aa_length": 1410,
"cds_start": 4219,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 4563,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": "NM_015100.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4060C>A",
"hgvs_p": "p.Leu1354Met",
"transcript": "ENST00000392723.6",
"protein_id": "ENSP00000376484.1",
"transcript_support_level": 1,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1357,
"cds_start": 4060,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 4089,
"cdna_end": null,
"cdna_length": 6181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3934C>A",
"hgvs_p": "p.Leu1312Met",
"transcript": "ENST00000368863.6",
"protein_id": "ENSP00000357856.2",
"transcript_support_level": 1,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3934,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 3963,
"cdna_end": null,
"cdna_length": 6054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4267C>A",
"hgvs_p": "p.Leu1423Met",
"transcript": "ENST00000710270.1",
"protein_id": "ENSP00000518163.1",
"transcript_support_level": null,
"aa_start": 1423,
"aa_end": null,
"aa_length": 1426,
"cds_start": 4267,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 4563,
"cdna_end": null,
"cdna_length": 6655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4240C>A",
"hgvs_p": "p.Leu1414Met",
"transcript": "NM_001410860.1",
"protein_id": "NP_001397789.1",
"transcript_support_level": null,
"aa_start": 1414,
"aa_end": null,
"aa_length": 1417,
"cds_start": 4240,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 4360,
"cdna_end": null,
"cdna_length": 6452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4240C>A",
"hgvs_p": "p.Leu1414Met",
"transcript": "ENST00000703168.1",
"protein_id": "ENSP00000515214.1",
"transcript_support_level": null,
"aa_start": 1414,
"aa_end": null,
"aa_length": 1417,
"cds_start": 4240,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 4336,
"cdna_end": null,
"cdna_length": 4350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4219C>A",
"hgvs_p": "p.Leu1407Met",
"transcript": "ENST00000439756.2",
"protein_id": "ENSP00000390156.2",
"transcript_support_level": 3,
"aa_start": 1407,
"aa_end": null,
"aa_length": 1410,
"cds_start": 4219,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 5798,
"cdna_end": null,
"cdna_length": 5812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4192C>A",
"hgvs_p": "p.Leu1398Met",
"transcript": "NM_001194937.2",
"protein_id": "NP_001181866.1",
"transcript_support_level": null,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1401,
"cds_start": 4192,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 4536,
"cdna_end": null,
"cdna_length": 6628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4192C>A",
"hgvs_p": "p.Leu1398Met",
"transcript": "ENST00000409503.5",
"protein_id": "ENSP00000386836.1",
"transcript_support_level": 2,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1401,
"cds_start": 4192,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 4221,
"cdna_end": null,
"cdna_length": 4813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4087C>A",
"hgvs_p": "p.Leu1363Met",
"transcript": "ENST00000491586.5",
"protein_id": "ENSP00000418408.1",
"transcript_support_level": 5,
"aa_start": 1363,
"aa_end": null,
"aa_length": 1366,
"cds_start": 4087,
"cds_end": null,
"cds_length": 4101,
"cdna_start": 4116,
"cdna_end": null,
"cdna_length": 4130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4060C>A",
"hgvs_p": "p.Leu1354Met",
"transcript": "NM_207171.2",
"protein_id": "NP_997054.1",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1357,
"cds_start": 4060,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 4061,
"cdna_end": null,
"cdna_length": 6153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4033C>A",
"hgvs_p": "p.Leu1345Met",
"transcript": "NM_001194938.2",
"protein_id": "NP_001181867.1",
"transcript_support_level": null,
"aa_start": 1345,
"aa_end": null,
"aa_length": 1348,
"cds_start": 4033,
"cds_end": null,
"cds_length": 4047,
"cdna_start": 4377,
"cdna_end": null,
"cdna_length": 6469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4033C>A",
"hgvs_p": "p.Leu1345Met",
"transcript": "ENST00000531094.5",
"protein_id": "ENSP00000431259.1",
"transcript_support_level": 2,
"aa_start": 1345,
"aa_end": null,
"aa_length": 1348,
"cds_start": 4033,
"cds_end": null,
"cds_length": 4047,
"cdna_start": 4098,
"cdna_end": null,
"cdna_length": 4415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3934C>A",
"hgvs_p": "p.Leu1312Met",
"transcript": "NM_145796.4",
"protein_id": "NP_665739.3",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1315,
"cds_start": 3934,
"cds_end": null,
"cds_length": 3948,
"cdna_start": 4278,
"cdna_end": null,
"cdna_length": 6370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4219C>A",
"hgvs_p": "p.Leu1407Met",
"transcript": "XM_005245000.5",
"protein_id": "XP_005245057.1",
"transcript_support_level": null,
"aa_start": 1407,
"aa_end": null,
"aa_length": 1410,
"cds_start": 4219,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 5096,
"cdna_end": null,
"cdna_length": 7188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4219C>A",
"hgvs_p": "p.Leu1407Met",
"transcript": "XM_047450064.1",
"protein_id": "XP_047306020.1",
"transcript_support_level": null,
"aa_start": 1407,
"aa_end": null,
"aa_length": 1410,
"cds_start": 4219,
"cds_end": null,
"cds_length": 4233,
"cdna_start": 4259,
"cdna_end": null,
"cdna_length": 6351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4213C>A",
"hgvs_p": "p.Leu1405Met",
"transcript": "XM_047450065.1",
"protein_id": "XP_047306021.1",
"transcript_support_level": null,
"aa_start": 1405,
"aa_end": null,
"aa_length": 1408,
"cds_start": 4213,
"cds_end": null,
"cds_length": 4227,
"cdna_start": 4333,
"cdna_end": null,
"cdna_length": 6425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4192C>A",
"hgvs_p": "p.Leu1398Met",
"transcript": "XM_017000746.2",
"protein_id": "XP_016856235.1",
"transcript_support_level": null,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1401,
"cds_start": 4192,
"cds_end": null,
"cds_length": 4206,
"cdna_start": 5069,
"cdna_end": null,
"cdna_length": 7161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4081C>A",
"hgvs_p": "p.Leu1361Met",
"transcript": "XM_017000748.2",
"protein_id": "XP_016856237.2",
"transcript_support_level": null,
"aa_start": 1361,
"aa_end": null,
"aa_length": 1364,
"cds_start": 4081,
"cds_end": null,
"cds_length": 4095,
"cdna_start": 4201,
"cdna_end": null,
"cdna_length": 6293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4060C>A",
"hgvs_p": "p.Leu1354Met",
"transcript": "XM_005245005.3",
"protein_id": "XP_005245062.1",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1357,
"cds_start": 4060,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 4404,
"cdna_end": null,
"cdna_length": 6496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4054C>A",
"hgvs_p": "p.Leu1352Met",
"transcript": "XM_047450068.1",
"protein_id": "XP_047306024.1",
"transcript_support_level": null,
"aa_start": 1352,
"aa_end": null,
"aa_length": 1355,
"cds_start": 4054,
"cds_end": null,
"cds_length": 4068,
"cdna_start": 4174,
"cdna_end": null,
"cdna_length": 6266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4033C>A",
"hgvs_p": "p.Leu1345Met",
"transcript": "XM_047450069.1",
"protein_id": "XP_047306025.1",
"transcript_support_level": null,
"aa_start": 1345,
"aa_end": null,
"aa_length": 1348,
"cds_start": 4033,
"cds_end": null,
"cds_length": 4047,
"cdna_start": 4910,
"cdna_end": null,
"cdna_length": 7002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3019C>A",
"hgvs_p": "p.Leu1007Met",
"transcript": "XM_047450070.1",
"protein_id": "XP_047306026.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1010,
"cds_start": 3019,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 3138,
"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.4367C>A",
"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": null,
"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": 0.17121785879135132,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.117,
"revel_prediction": "Benign",
"alphamissense_score": 0.12,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.125,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_015100.4",
"gene_symbol": "POGZ",
"hgnc_id": 18801,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4219C>A",
"hgvs_p": "p.Leu1407Met"
}
],
"clinvar_disease": "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}