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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: 8-18535880-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=18535880&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 18535880,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000327040.13",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.3007G>A",
"hgvs_p": "p.Ala1003Thr",
"transcript": "NM_015310.4",
"protein_id": "NP_056125.3",
"transcript_support_level": null,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1047,
"cds_start": 3007,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3127,
"cdna_end": null,
"cdna_length": 11704,
"mane_select": "ENST00000327040.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.3007G>A",
"hgvs_p": "p.Ala1003Thr",
"transcript": "ENST00000327040.13",
"protein_id": "ENSP00000324127.8",
"transcript_support_level": 1,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1047,
"cds_start": 3007,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3127,
"cdna_end": null,
"cdna_length": 11704,
"mane_select": "NM_015310.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2812G>A",
"hgvs_p": "p.Ala938Thr",
"transcript": "ENST00000523619.5",
"protein_id": "ENSP00000430640.1",
"transcript_support_level": 1,
"aa_start": 938,
"aa_end": null,
"aa_length": 982,
"cds_start": 2812,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2976,
"cdna_end": null,
"cdna_length": 8145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Ala469Thr",
"transcript": "ENST00000286485.12",
"protein_id": "ENSP00000286485.8",
"transcript_support_level": 1,
"aa_start": 469,
"aa_end": null,
"aa_length": 513,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 6665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Ala332Thr",
"transcript": "ENST00000428502.6",
"protein_id": "ENSP00000393228.2",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 376,
"cds_start": 994,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.3391G>A",
"hgvs_p": "p.Ala1131Thr",
"transcript": "NM_001412866.1",
"protein_id": "NP_001399795.1",
"transcript_support_level": null,
"aa_start": 1131,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3391,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 3667,
"cdna_end": null,
"cdna_length": 12244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.3310G>A",
"hgvs_p": "p.Ala1104Thr",
"transcript": "NM_001412865.1",
"protein_id": "NP_001399794.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1148,
"cds_start": 3310,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 3586,
"cdna_end": null,
"cdna_length": 12163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.3046G>A",
"hgvs_p": "p.Ala1016Thr",
"transcript": "NM_001412875.1",
"protein_id": "NP_001399804.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 1060,
"cds_start": 3046,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 3308,
"cdna_end": null,
"cdna_length": 11885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.3004G>A",
"hgvs_p": "p.Ala1002Thr",
"transcript": "NM_001412876.1",
"protein_id": "NP_001399805.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1046,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3141,
"cdna_start": 3203,
"cdna_end": null,
"cdna_length": 11780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2917G>A",
"hgvs_p": "p.Ala973Thr",
"transcript": "NM_001412873.1",
"protein_id": "NP_001399802.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2917,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 3037,
"cdna_end": null,
"cdna_length": 11614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2908G>A",
"hgvs_p": "p.Ala970Thr",
"transcript": "NM_001362819.2",
"protein_id": "NP_001349748.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2908,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 3327,
"cdna_end": null,
"cdna_length": 11904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2905G>A",
"hgvs_p": "p.Ala969Thr",
"transcript": "NM_001412871.1",
"protein_id": "NP_001399800.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2905,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 3018,
"cdna_end": null,
"cdna_length": 11595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2815G>A",
"hgvs_p": "p.Ala939Thr",
"transcript": "NM_001412872.1",
"protein_id": "NP_001399801.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 983,
"cds_start": 2815,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 2928,
"cdna_end": null,
"cdna_length": 11505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2812G>A",
"hgvs_p": "p.Ala938Thr",
"transcript": "NM_001412874.1",
"protein_id": "NP_001399803.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 982,
"cds_start": 2812,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 3168,
"cdna_end": null,
"cdna_length": 11745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2812G>A",
"hgvs_p": "p.Ala938Thr",
"transcript": "NM_001412882.1",
"protein_id": "NP_001399811.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 982,
"cds_start": 2812,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 3333,
"cdna_end": null,
"cdna_length": 11910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.2812G>A",
"hgvs_p": "p.Ala938Thr",
"transcript": "NM_001412883.1",
"protein_id": "NP_001399812.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 982,
"cds_start": 2812,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2999,
"cdna_end": null,
"cdna_length": 11576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Ala469Thr",
"transcript": "NM_206909.3",
"protein_id": "NP_996792.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 513,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 10063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.1399G>A",
"hgvs_p": "p.Ala467Thr",
"transcript": "NM_001412891.1",
"protein_id": "NP_001399820.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 511,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 10040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Ala444Thr",
"transcript": "NM_001412885.1",
"protein_id": "NP_001399814.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 488,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 10216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Ala444Thr",
"transcript": "NM_001412886.1",
"protein_id": "NP_001399815.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 488,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 10282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Ala444Thr",
"transcript": "NM_001412888.1",
"protein_id": "NP_001399817.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 488,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 10065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Ala444Thr",
"transcript": "NM_001412889.1",
"protein_id": "NP_001399818.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 488,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 10065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.994G>A",
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"transcript": "NM_001412895.1",
"protein_id": "NP_001399824.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 376,
"cds_start": 994,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 9705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Ala319Thr",
"transcript": "NM_001412890.1",
"protein_id": "NP_001399819.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 363,
"cds_start": 955,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 10361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Ala205Thr",
"transcript": "NM_001412896.1",
"protein_id": "NP_001399825.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 249,
"cds_start": 613,
"cds_end": null,
"cds_length": 750,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 9661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
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"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "n.*1013G>A",
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"transcript": "ENST00000518315.5",
"protein_id": "ENSP00000428889.1",
"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": 1806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "n.573G>A",
"hgvs_p": null,
"transcript": "ENST00000521878.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 733,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
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"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "c.*21G>A",
"hgvs_p": null,
"transcript": "NM_001412870.1",
"protein_id": "NP_001399799.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1000,
"cds_start": -4,
"cds_end": null,
"cds_length": 3003,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"hgvs_c": "n.*1013G>A",
"hgvs_p": null,
"transcript": "ENST00000518315.5",
"protein_id": "ENSP00000428889.1",
"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": 1806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PSD3",
"gene_hgnc_id": 19093,
"dbsnp": "rs766307150",
"frequency_reference_population": 0.000011771601,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000123131,
"gnomad_genomes_af": 0.00000657056,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.031657636165618896,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.0678,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.304,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000327040.13",
"gene_symbol": "PSD3",
"hgnc_id": 19093,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3007G>A",
"hgvs_p": "p.Ala1003Thr"
}
],
"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
}