← 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: 8-18535864-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=18535864&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 18535864,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015310.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"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.3023C>T",
"hgvs_p": "p.Ser1008Leu",
"transcript": "NM_015310.4",
"protein_id": "NP_056125.3",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1047,
"cds_start": 3023,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3143,
"cdna_end": null,
"cdna_length": 11704,
"mane_select": "ENST00000327040.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.3023C>T",
"hgvs_p": "p.Ser1008Leu",
"transcript": "ENST00000327040.13",
"protein_id": "ENSP00000324127.8",
"transcript_support_level": 1,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1047,
"cds_start": 3023,
"cds_end": null,
"cds_length": 3144,
"cdna_start": 3143,
"cdna_end": null,
"cdna_length": 11704,
"mane_select": "NM_015310.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.2828C>T",
"hgvs_p": "p.Ser943Leu",
"transcript": "ENST00000523619.5",
"protein_id": "ENSP00000430640.1",
"transcript_support_level": 1,
"aa_start": 943,
"aa_end": null,
"aa_length": 982,
"cds_start": 2828,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2992,
"cdna_end": null,
"cdna_length": 8145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1421C>T",
"hgvs_p": "p.Ser474Leu",
"transcript": "ENST00000286485.12",
"protein_id": "ENSP00000286485.8",
"transcript_support_level": 1,
"aa_start": 474,
"aa_end": null,
"aa_length": 513,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 6665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1010C>T",
"hgvs_p": "p.Ser337Leu",
"transcript": "ENST00000428502.6",
"protein_id": "ENSP00000393228.2",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 376,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.3407C>T",
"hgvs_p": "p.Ser1136Leu",
"transcript": "NM_001412866.1",
"protein_id": "NP_001399795.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1175,
"cds_start": 3407,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 3683,
"cdna_end": null,
"cdna_length": 12244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.3326C>T",
"hgvs_p": "p.Ser1109Leu",
"transcript": "NM_001412865.1",
"protein_id": "NP_001399794.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1148,
"cds_start": 3326,
"cds_end": null,
"cds_length": 3447,
"cdna_start": 3602,
"cdna_end": null,
"cdna_length": 12163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.3062C>T",
"hgvs_p": "p.Ser1021Leu",
"transcript": "NM_001412875.1",
"protein_id": "NP_001399804.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1060,
"cds_start": 3062,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 3324,
"cdna_end": null,
"cdna_length": 11885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.3020C>T",
"hgvs_p": "p.Ser1007Leu",
"transcript": "NM_001412876.1",
"protein_id": "NP_001399805.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1046,
"cds_start": 3020,
"cds_end": null,
"cds_length": 3141,
"cdna_start": 3219,
"cdna_end": null,
"cdna_length": 11780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.2933C>T",
"hgvs_p": "p.Ser978Leu",
"transcript": "NM_001412873.1",
"protein_id": "NP_001399802.1",
"transcript_support_level": null,
"aa_start": 978,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2933,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 3053,
"cdna_end": null,
"cdna_length": 11614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.2924C>T",
"hgvs_p": "p.Ser975Leu",
"transcript": "NM_001362819.2",
"protein_id": "NP_001349748.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2924,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 3343,
"cdna_end": null,
"cdna_length": 11904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.2921C>T",
"hgvs_p": "p.Ser974Leu",
"transcript": "NM_001412871.1",
"protein_id": "NP_001399800.1",
"transcript_support_level": null,
"aa_start": 974,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2921,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 3034,
"cdna_end": null,
"cdna_length": 11595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.2831C>T",
"hgvs_p": "p.Ser944Leu",
"transcript": "NM_001412872.1",
"protein_id": "NP_001399801.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 983,
"cds_start": 2831,
"cds_end": null,
"cds_length": 2952,
"cdna_start": 2944,
"cdna_end": null,
"cdna_length": 11505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.2828C>T",
"hgvs_p": "p.Ser943Leu",
"transcript": "NM_001412874.1",
"protein_id": "NP_001399803.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 982,
"cds_start": 2828,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 3184,
"cdna_end": null,
"cdna_length": 11745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.2828C>T",
"hgvs_p": "p.Ser943Leu",
"transcript": "NM_001412882.1",
"protein_id": "NP_001399811.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 982,
"cds_start": 2828,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 3349,
"cdna_end": null,
"cdna_length": 11910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.2828C>T",
"hgvs_p": "p.Ser943Leu",
"transcript": "NM_001412883.1",
"protein_id": "NP_001399812.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 982,
"cds_start": 2828,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 3015,
"cdna_end": null,
"cdna_length": 11576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1421C>T",
"hgvs_p": "p.Ser474Leu",
"transcript": "NM_206909.3",
"protein_id": "NP_996792.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 513,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 10063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1415C>T",
"hgvs_p": "p.Ser472Leu",
"transcript": "NM_001412891.1",
"protein_id": "NP_001399820.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 511,
"cds_start": 1415,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 10040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1346C>T",
"hgvs_p": "p.Ser449Leu",
"transcript": "NM_001412885.1",
"protein_id": "NP_001399814.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 488,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1655,
"cdna_end": null,
"cdna_length": 10216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1346C>T",
"hgvs_p": "p.Ser449Leu",
"transcript": "NM_001412886.1",
"protein_id": "NP_001399815.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 488,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 10282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1346C>T",
"hgvs_p": "p.Ser449Leu",
"transcript": "NM_001412888.1",
"protein_id": "NP_001399817.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 488,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 10065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1346C>T",
"hgvs_p": "p.Ser449Leu",
"transcript": "NM_001412889.1",
"protein_id": "NP_001399818.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 488,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 10065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1010C>T",
"hgvs_p": "p.Ser337Leu",
"transcript": "NM_001412895.1",
"protein_id": "NP_001399824.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 376,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 9705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.971C>T",
"hgvs_p": "p.Ser324Leu",
"transcript": "NM_001412890.1",
"protein_id": "NP_001399819.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 363,
"cds_start": 971,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 10361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.629C>T",
"hgvs_p": "p.Ser210Leu",
"transcript": "NM_001412896.1",
"protein_id": "NP_001399825.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 249,
"cds_start": 629,
"cds_end": null,
"cds_length": 750,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 9661,
"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": 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.*1029C>T",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"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.589C>T",
"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,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_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.*37C>T",
"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,
"aa_alt": null,
"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.*1029C>T",
"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": "rs1198432700",
"frequency_reference_population": 0.000016729226,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000177863,
"gnomad_genomes_af": 0.00000657289,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.28736478090286255,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.231,
"revel_prediction": "Benign",
"alphamissense_score": 0.5698,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.109,
"phylop100way_prediction": "Uncertain_significance",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_015310.4",
"gene_symbol": "PSD3",
"hgnc_id": 19093,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3023C>T",
"hgvs_p": "p.Ser1008Leu"
}
],
"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
}