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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: 5-115913419-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=115913419&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 115913419,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001364119.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "c.511C>A",
"hgvs_p": "p.Pro171Thr",
"transcript": "NM_001284.4",
"protein_id": "NP_001275.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 193,
"cds_start": 511,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316788.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "c.511C>A",
"hgvs_p": "p.Pro171Thr",
"transcript": "ENST00000316788.12",
"protein_id": "ENSP00000325369.7",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 193,
"cds_start": 511,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001284.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316788.12"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "n.588C>A",
"hgvs_p": null,
"transcript": "ENST00000395548.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000395548.6"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "c.661C>A",
"hgvs_p": "p.Pro221Thr",
"transcript": "ENST00000922028.1",
"protein_id": "ENSP00000592087.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 243,
"cds_start": 661,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922028.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "c.559C>A",
"hgvs_p": "p.Pro187Thr",
"transcript": "NM_001364119.1",
"protein_id": "NP_001351048.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 209,
"cds_start": 559,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364119.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "c.559C>A",
"hgvs_p": "p.Pro187Thr",
"transcript": "ENST00000905988.1",
"protein_id": "ENSP00000576047.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 209,
"cds_start": 559,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905988.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "c.508C>A",
"hgvs_p": "p.Pro170Thr",
"transcript": "ENST00000953387.1",
"protein_id": "ENSP00000623446.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 192,
"cds_start": 508,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953387.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Pro149Thr",
"transcript": "NM_001002924.3",
"protein_id": "NP_001002924.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 171,
"cds_start": 445,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002924.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.Pro147Thr",
"transcript": "NM_001318091.2",
"protein_id": "NP_001305020.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 169,
"cds_start": 439,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318091.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.Pro147Thr",
"transcript": "ENST00000905987.1",
"protein_id": "ENSP00000576046.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 169,
"cds_start": 439,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905987.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "c.403C>A",
"hgvs_p": "p.Pro135Thr",
"transcript": "NM_001318094.2",
"protein_id": "NP_001305023.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 157,
"cds_start": 403,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318094.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Pro111Thr",
"transcript": "NM_001364122.1",
"protein_id": "NP_001351051.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 133,
"cds_start": 331,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364122.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "c.331C>A",
"hgvs_p": "p.Pro111Thr",
"transcript": "ENST00000905989.1",
"protein_id": "ENSP00000576048.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 133,
"cds_start": 331,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905989.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "c.307C>A",
"hgvs_p": "p.Pro103Thr",
"transcript": "NM_001318090.2",
"protein_id": "NP_001305019.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 125,
"cds_start": 307,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318090.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "c.307C>A",
"hgvs_p": "p.Pro103Thr",
"transcript": "ENST00000905986.1",
"protein_id": "ENSP00000576045.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 125,
"cds_start": 307,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905986.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "c.235C>A",
"hgvs_p": "p.Pro79Thr",
"transcript": "ENST00000905990.1",
"protein_id": "ENSP00000576049.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 101,
"cds_start": 235,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905990.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "c.337C>A",
"hgvs_p": "p.Pro113Thr",
"transcript": "XM_047416696.1",
"protein_id": "XP_047272652.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 135,
"cds_start": 337,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416696.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "c.*63C>A",
"hgvs_p": null,
"transcript": "NM_001318093.2",
"protein_id": "NP_001305022.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": null,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318093.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "c.*63C>A",
"hgvs_p": null,
"transcript": "NM_001364120.1",
"protein_id": "NP_001351049.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": null,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364120.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "n.130C>A",
"hgvs_p": null,
"transcript": "ENST00000505423.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000505423.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "n.*111C>A",
"hgvs_p": null,
"transcript": "ENST00000506430.2",
"protein_id": "ENSP00000446179.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000506430.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "n.692C>A",
"hgvs_p": null,
"transcript": "NR_157084.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157084.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "n.744C>A",
"hgvs_p": null,
"transcript": "NR_157085.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157085.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "n.439C>A",
"hgvs_p": null,
"transcript": "NR_157086.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157086.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "n.532C>A",
"hgvs_p": null,
"transcript": "NR_157087.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157087.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "n.*111C>A",
"hgvs_p": null,
"transcript": "ENST00000506430.2",
"protein_id": "ENSP00000446179.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000506430.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"hgvs_c": "c.*1336C>A",
"hgvs_p": null,
"transcript": "XM_017009024.3",
"protein_id": "XP_016864513.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": null,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009024.3"
}
],
"gene_symbol": "AP3S1",
"gene_hgnc_id": 2013,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7241448163986206,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.276,
"revel_prediction": "Benign",
"alphamissense_score": 0.3692,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.855,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001364119.1",
"gene_symbol": "AP3S1",
"hgnc_id": 2013,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.559C>A",
"hgvs_p": "p.Pro187Thr"
}
],
"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
}