← 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: 4-168924989-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=168924989&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 168924989,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000505667.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.3269G>T",
"hgvs_p": "p.Gly1090Val",
"transcript": "NM_001166108.2",
"protein_id": "NP_001159580.1",
"transcript_support_level": null,
"aa_start": 1090,
"aa_end": null,
"aa_length": 1123,
"cds_start": 3269,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 3494,
"cdna_end": null,
"cdna_length": 5858,
"mane_select": "ENST00000505667.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.3269G>T",
"hgvs_p": "p.Gly1090Val",
"transcript": "ENST00000505667.6",
"protein_id": "ENSP00000425556.1",
"transcript_support_level": 1,
"aa_start": 1090,
"aa_end": null,
"aa_length": 1123,
"cds_start": 3269,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 3494,
"cdna_end": null,
"cdna_length": 5858,
"mane_select": "NM_001166108.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.3218G>T",
"hgvs_p": "p.Gly1073Val",
"transcript": "ENST00000261509.10",
"protein_id": "ENSP00000261509.6",
"transcript_support_level": 1,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3218,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 3429,
"cdna_end": null,
"cdna_length": 5809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1757G>T",
"hgvs_p": "p.Gly586Val",
"transcript": "ENST00000507735.6",
"protein_id": "ENSP00000424016.1",
"transcript_support_level": 1,
"aa_start": 586,
"aa_end": null,
"aa_length": 672,
"cds_start": 1757,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2070,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "n.1535G>T",
"hgvs_p": null,
"transcript": "ENST00000507699.1",
"protein_id": null,
"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": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.3218G>T",
"hgvs_p": "p.Gly1073Val",
"transcript": "NM_016081.4",
"protein_id": "NP_057165.3",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1106,
"cds_start": 3218,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 3443,
"cdna_end": null,
"cdna_length": 5807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2072G>T",
"hgvs_p": "p.Gly691Val",
"transcript": "NM_001166109.2",
"protein_id": "NP_001159581.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 777,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2633,
"cdna_end": null,
"cdna_length": 4951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2072G>T",
"hgvs_p": "p.Gly691Val",
"transcript": "ENST00000512127.5",
"protein_id": "ENSP00000426947.1",
"transcript_support_level": 2,
"aa_start": 691,
"aa_end": null,
"aa_length": 777,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2594,
"cdna_end": null,
"cdna_length": 2958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1757G>T",
"hgvs_p": "p.Gly586Val",
"transcript": "NM_001166110.2",
"protein_id": "NP_001159582.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 672,
"cds_start": 1757,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2003,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1148G>T",
"hgvs_p": "p.Gly383Val",
"transcript": "NM_001367568.1",
"protein_id": "NP_001354497.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 469,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 3700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1148G>T",
"hgvs_p": "p.Gly383Val",
"transcript": "ENST00000704822.1",
"protein_id": "ENSP00000516055.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 469,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 3736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1097G>T",
"hgvs_p": "p.Gly366Val",
"transcript": "NM_001367569.1",
"protein_id": "NP_001354498.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 452,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 3649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1148G>T",
"hgvs_p": "p.Gly383Val",
"transcript": "NM_001367570.1",
"protein_id": "NP_001354499.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 416,
"cds_start": 1148,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1097G>T",
"hgvs_p": "p.Gly366Val",
"transcript": "NM_001367567.1",
"protein_id": "NP_001354496.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 399,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.377G>T",
"hgvs_p": "p.Gly126Val",
"transcript": "ENST00000503290.1",
"protein_id": "ENSP00000425729.1",
"transcript_support_level": 3,
"aa_start": 126,
"aa_end": null,
"aa_length": 159,
"cds_start": 377,
"cds_end": null,
"cds_length": 480,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.4145G>T",
"hgvs_p": "p.Gly1382Val",
"transcript": "XM_011531768.3",
"protein_id": "XP_011530070.1",
"transcript_support_level": null,
"aa_start": 1382,
"aa_end": null,
"aa_length": 1468,
"cds_start": 4145,
"cds_end": null,
"cds_length": 4407,
"cdna_start": 4505,
"cdna_end": null,
"cdna_length": 6823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.4094G>T",
"hgvs_p": "p.Gly1365Val",
"transcript": "XM_011531769.3",
"protein_id": "XP_011530071.1",
"transcript_support_level": null,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1451,
"cds_start": 4094,
"cds_end": null,
"cds_length": 4356,
"cdna_start": 4454,
"cdna_end": null,
"cdna_length": 6772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.4145G>T",
"hgvs_p": "p.Gly1382Val",
"transcript": "XM_047449861.1",
"protein_id": "XP_047305817.1",
"transcript_support_level": null,
"aa_start": 1382,
"aa_end": null,
"aa_length": 1415,
"cds_start": 4145,
"cds_end": null,
"cds_length": 4248,
"cdna_start": 4505,
"cdna_end": null,
"cdna_length": 4646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.4094G>T",
"hgvs_p": "p.Gly1365Val",
"transcript": "XM_047449862.1",
"protein_id": "XP_047305818.1",
"transcript_support_level": null,
"aa_start": 1365,
"aa_end": null,
"aa_length": 1398,
"cds_start": 4094,
"cds_end": null,
"cds_length": 4197,
"cdna_start": 4454,
"cdna_end": null,
"cdna_length": 4595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.3872G>T",
"hgvs_p": "p.Gly1291Val",
"transcript": "XM_011531771.3",
"protein_id": "XP_011530073.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1377,
"cds_start": 3872,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 4232,
"cdna_end": null,
"cdna_length": 6550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.3773G>T",
"hgvs_p": "p.Gly1258Val",
"transcript": "XM_011531772.3",
"protein_id": "XP_011530074.1",
"transcript_support_level": null,
"aa_start": 1258,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3773,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 4133,
"cdna_end": null,
"cdna_length": 6451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.3473G>T",
"hgvs_p": "p.Gly1158Val",
"transcript": "XM_011531773.2",
"protein_id": "XP_011530075.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3473,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 3833,
"cdna_end": null,
"cdna_length": 6151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.3422G>T",
"hgvs_p": "p.Gly1141Val",
"transcript": "XM_011531774.2",
"protein_id": "XP_011530076.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1227,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3684,
"cdna_start": 3782,
"cdna_end": null,
"cdna_length": 6100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.3101G>T",
"hgvs_p": "p.Gly1034Val",
"transcript": "XM_047449863.1",
"protein_id": "XP_047305819.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3101,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 3461,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2795G>T",
"hgvs_p": "p.Gly932Val",
"transcript": "XM_011531775.2",
"protein_id": "XP_011530077.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2795,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 3145,
"cdna_end": null,
"cdna_length": 5463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2795G>T",
"hgvs_p": "p.Gly932Val",
"transcript": "XM_024453939.2",
"protein_id": "XP_024309707.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2795,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 3469,
"cdna_end": null,
"cdna_length": 5787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2795G>T",
"hgvs_p": "p.Gly932Val",
"transcript": "XM_047449864.1",
"protein_id": "XP_047305820.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2795,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 3176,
"cdna_end": null,
"cdna_length": 5494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2744G>T",
"hgvs_p": "p.Gly915Val",
"transcript": "XM_047449865.1",
"protein_id": "XP_047305821.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2744,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 3094,
"cdna_end": null,
"cdna_length": 5412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.2072G>T",
"hgvs_p": "p.Gly691Val",
"transcript": "XM_047449866.1",
"protein_id": "XP_047305822.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 777,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2422,
"cdna_end": null,
"cdna_length": 4740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1808G>T",
"hgvs_p": "p.Gly603Val",
"transcript": "XM_024453940.2",
"protein_id": "XP_024309708.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 689,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2054,
"cdna_end": null,
"cdna_length": 4372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1535G>T",
"hgvs_p": "p.Gly512Val",
"transcript": "XM_047449867.1",
"protein_id": "XP_047305823.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 598,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1781,
"cdna_end": null,
"cdna_length": 4099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1436G>T",
"hgvs_p": "p.Gly479Val",
"transcript": "XM_047449868.1",
"protein_id": "XP_047305824.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 565,
"cds_start": 1436,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 4000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1535G>T",
"hgvs_p": "p.Gly512Val",
"transcript": "XM_047449869.1",
"protein_id": "XP_047305825.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 545,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1781,
"cdna_end": null,
"cdna_length": 1922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"hgvs_c": "c.1097G>T",
"hgvs_p": "p.Gly366Val",
"transcript": "XM_047449870.1",
"protein_id": "XP_047305826.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 399,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 1472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CBR4",
"gene_hgnc_id": 25891,
"hgvs_c": "n.170-30224C>A",
"hgvs_p": null,
"transcript": "ENST00000509108.1",
"protein_id": null,
"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": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CBR4",
"gene_hgnc_id": 25891,
"hgvs_c": "n.*259-30224C>A",
"hgvs_p": null,
"transcript": "ENST00000510042.5",
"protein_id": "ENSP00000424717.1",
"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": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CBR4",
"gene_hgnc_id": 25891,
"hgvs_c": "c.566-30224C>A",
"hgvs_p": null,
"transcript": "XM_017008782.2",
"protein_id": "XP_016864271.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": -4,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CBR4",
"gene_hgnc_id": 25891,
"hgvs_c": "c.536-30224C>A",
"hgvs_p": null,
"transcript": "XM_005263315.4",
"protein_id": "XP_005263372.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": -4,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CBR4",
"gene_hgnc_id": 25891,
"hgvs_c": "n.872+3548C>A",
"hgvs_p": null,
"transcript": "XR_001741341.2",
"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": 1178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CBR4",
"gene_hgnc_id": 25891,
"hgvs_c": "n.872+3548C>A",
"hgvs_p": null,
"transcript": "XR_007057980.1",
"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": 1018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PALLD",
"gene_hgnc_id": 17068,
"dbsnp": "rs587780756",
"frequency_reference_population": 6.840769e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84077e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7521559000015259,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.508,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.41,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.09,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000505667.6",
"gene_symbol": "PALLD",
"hgnc_id": 17068,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3269G>T",
"hgvs_p": "p.Gly1090Val"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000510042.5",
"gene_symbol": "CBR4",
"hgnc_id": 25891,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*259-30224C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}