← 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: 12-122986062-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122986062&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 122986062,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001384660.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.4015C>G",
"hgvs_p": "p.Arg1339Gly",
"transcript": "NM_020845.3",
"protein_id": "NP_065896.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1349,
"cds_start": 4015,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320201.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020845.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.4015C>G",
"hgvs_p": "p.Arg1339Gly",
"transcript": "ENST00000320201.10",
"protein_id": "ENSP00000322218.4",
"transcript_support_level": 5,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1349,
"cds_start": 4015,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020845.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320201.10"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.4192C>G",
"hgvs_p": "p.Arg1398Gly",
"transcript": "NM_001384660.1",
"protein_id": "NP_001371589.1",
"transcript_support_level": null,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1408,
"cds_start": 4192,
"cds_end": null,
"cds_length": 4227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384660.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.4015C>G",
"hgvs_p": "p.Arg1339Gly",
"transcript": "ENST00000876870.1",
"protein_id": "ENSP00000546929.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1349,
"cds_start": 4015,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876870.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3997C>G",
"hgvs_p": "p.Arg1333Gly",
"transcript": "NM_001300801.2",
"protein_id": "NP_001287730.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3997,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300801.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3997C>G",
"hgvs_p": "p.Arg1333Gly",
"transcript": "NM_001384668.1",
"protein_id": "NP_001371597.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3997,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384668.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3997C>G",
"hgvs_p": "p.Arg1333Gly",
"transcript": "ENST00000280562.9",
"protein_id": "ENSP00000280562.5",
"transcript_support_level": 5,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3997,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280562.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3964C>G",
"hgvs_p": "p.Arg1322Gly",
"transcript": "ENST00000876869.1",
"protein_id": "ENSP00000546928.1",
"transcript_support_level": null,
"aa_start": 1322,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3964,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876869.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3853C>G",
"hgvs_p": "p.Arg1285Gly",
"transcript": "NM_001384661.1",
"protein_id": "NP_001371590.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3853,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384661.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3853C>G",
"hgvs_p": "p.Arg1285Gly",
"transcript": "NM_001384663.1",
"protein_id": "NP_001371592.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3853,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384663.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3853C>G",
"hgvs_p": "p.Arg1285Gly",
"transcript": "ENST00000876871.1",
"protein_id": "ENSP00000546930.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3853,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876871.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3853C>G",
"hgvs_p": "p.Arg1285Gly",
"transcript": "ENST00000931311.1",
"protein_id": "ENSP00000601370.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3853,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931311.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3844C>G",
"hgvs_p": "p.Arg1282Gly",
"transcript": "NM_001384662.1",
"protein_id": "NP_001371591.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3844,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384662.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3844C>G",
"hgvs_p": "p.Arg1282Gly",
"transcript": "ENST00000876868.1",
"protein_id": "ENSP00000546927.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3844,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876868.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3802C>G",
"hgvs_p": "p.Arg1268Gly",
"transcript": "NM_001384664.1",
"protein_id": "NP_001371593.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3802,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384664.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.4273C>G",
"hgvs_p": "p.Arg1425Gly",
"transcript": "XM_024449099.2",
"protein_id": "XP_024304867.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1435,
"cds_start": 4273,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449099.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.4273C>G",
"hgvs_p": "p.Arg1425Gly",
"transcript": "XM_047429200.1",
"protein_id": "XP_047285156.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1435,
"cds_start": 4273,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429200.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.4273C>G",
"hgvs_p": "p.Arg1425Gly",
"transcript": "XM_047429201.1",
"protein_id": "XP_047285157.1",
"transcript_support_level": null,
"aa_start": 1425,
"aa_end": null,
"aa_length": 1435,
"cds_start": 4273,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429201.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.4177C>G",
"hgvs_p": "p.Arg1393Gly",
"transcript": "XM_047429202.1",
"protein_id": "XP_047285158.1",
"transcript_support_level": null,
"aa_start": 1393,
"aa_end": null,
"aa_length": 1403,
"cds_start": 4177,
"cds_end": null,
"cds_length": 4212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429202.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.4129C>G",
"hgvs_p": "p.Arg1377Gly",
"transcript": "XM_047429203.1",
"protein_id": "XP_047285159.1",
"transcript_support_level": null,
"aa_start": 1377,
"aa_end": null,
"aa_length": 1387,
"cds_start": 4129,
"cds_end": null,
"cds_length": 4164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429203.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.4126C>G",
"hgvs_p": "p.Arg1376Gly",
"transcript": "XM_047429204.1",
"protein_id": "XP_047285160.1",
"transcript_support_level": null,
"aa_start": 1376,
"aa_end": null,
"aa_length": 1386,
"cds_start": 4126,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429204.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.4075C>G",
"hgvs_p": "p.Arg1359Gly",
"transcript": "XM_024449100.2",
"protein_id": "XP_024304868.1",
"transcript_support_level": null,
"aa_start": 1359,
"aa_end": null,
"aa_length": 1369,
"cds_start": 4075,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449100.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.4033C>G",
"hgvs_p": "p.Arg1345Gly",
"transcript": "XM_047429205.1",
"protein_id": "XP_047285161.1",
"transcript_support_level": null,
"aa_start": 1345,
"aa_end": null,
"aa_length": 1355,
"cds_start": 4033,
"cds_end": null,
"cds_length": 4068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429205.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.4015C>G",
"hgvs_p": "p.Arg1339Gly",
"transcript": "XM_047429206.1",
"protein_id": "XP_047285162.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1349,
"cds_start": 4015,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429206.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.4015C>G",
"hgvs_p": "p.Arg1339Gly",
"transcript": "XM_047429207.1",
"protein_id": "XP_047285163.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1349,
"cds_start": 4015,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429207.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3997C>G",
"hgvs_p": "p.Arg1333Gly",
"transcript": "XM_047429208.1",
"protein_id": "XP_047285164.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3997,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429208.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3985C>G",
"hgvs_p": "p.Arg1329Gly",
"transcript": "XM_047429209.1",
"protein_id": "XP_047285165.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1339,
"cds_start": 3985,
"cds_end": null,
"cds_length": 4020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429209.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3967C>G",
"hgvs_p": "p.Arg1323Gly",
"transcript": "XM_047429210.1",
"protein_id": "XP_047285166.1",
"transcript_support_level": null,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1333,
"cds_start": 3967,
"cds_end": null,
"cds_length": 4002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429210.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3964C>G",
"hgvs_p": "p.Arg1322Gly",
"transcript": "XM_047429211.1",
"protein_id": "XP_047285167.1",
"transcript_support_level": null,
"aa_start": 1322,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3964,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429211.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3871C>G",
"hgvs_p": "p.Arg1291Gly",
"transcript": "XM_047429212.1",
"protein_id": "XP_047285168.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1301,
"cds_start": 3871,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429212.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3853C>G",
"hgvs_p": "p.Arg1285Gly",
"transcript": "XM_047429213.1",
"protein_id": "XP_047285169.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3853,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429213.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3853C>G",
"hgvs_p": "p.Arg1285Gly",
"transcript": "XM_047429214.1",
"protein_id": "XP_047285170.1",
"transcript_support_level": null,
"aa_start": 1285,
"aa_end": null,
"aa_length": 1295,
"cds_start": 3853,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429214.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3820C>G",
"hgvs_p": "p.Arg1274Gly",
"transcript": "XM_047429215.1",
"protein_id": "XP_047285171.1",
"transcript_support_level": null,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1284,
"cds_start": 3820,
"cds_end": null,
"cds_length": 3855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429215.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3805C>G",
"hgvs_p": "p.Arg1269Gly",
"transcript": "XM_047429216.1",
"protein_id": "XP_047285172.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3805,
"cds_end": null,
"cds_length": 3840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429216.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3712C>G",
"hgvs_p": "p.Arg1238Gly",
"transcript": "XM_047429217.1",
"protein_id": "XP_047285173.1",
"transcript_support_level": null,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1248,
"cds_start": 3712,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429217.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.3121C>G",
"hgvs_p": "p.Arg1041Gly",
"transcript": "XM_024449101.2",
"protein_id": "XP_024304869.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1051,
"cds_start": 3121,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449101.2"
}
],
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"dbsnp": "rs993650230",
"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": 0.25152525305747986,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.138,
"revel_prediction": "Benign",
"alphamissense_score": 0.1463,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.283,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001384660.1",
"gene_symbol": "PITPNM2",
"hgnc_id": 21044,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4192C>G",
"hgvs_p": "p.Arg1398Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}