← 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: 19-49807348-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49807348&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49807348,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000313777.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1060G>T",
"hgvs_p": "p.Asp354Tyr",
"transcript": "NM_025129.5",
"protein_id": "NP_079405.2",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 418,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": "ENST00000313777.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1060G>T",
"hgvs_p": "p.Asp354Tyr",
"transcript": "ENST00000313777.9",
"protein_id": "ENSP00000313309.4",
"transcript_support_level": 1,
"aa_start": 354,
"aa_end": null,
"aa_length": 418,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": "NM_025129.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1063G>T",
"hgvs_p": "p.Asp355Tyr",
"transcript": "NM_001352262.2",
"protein_id": "NP_001339191.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 419,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.952G>T",
"hgvs_p": "p.Asp318Tyr",
"transcript": "NM_001171937.2",
"protein_id": "NP_001165408.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 382,
"cds_start": 952,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.952G>T",
"hgvs_p": "p.Asp318Tyr",
"transcript": "ENST00000528094.5",
"protein_id": "ENSP00000435177.1",
"transcript_support_level": 2,
"aa_start": 318,
"aa_end": null,
"aa_length": 382,
"cds_start": 952,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 1479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.910G>T",
"hgvs_p": "p.Asp304Tyr",
"transcript": "NM_001363663.1",
"protein_id": "NP_001350592.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 368,
"cds_start": 910,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 1591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.910G>T",
"hgvs_p": "p.Asp304Tyr",
"transcript": "ENST00000533418.5",
"protein_id": "ENSP00000431731.1",
"transcript_support_level": 5,
"aa_start": 304,
"aa_end": null,
"aa_length": 368,
"cds_start": 910,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.913G>T",
"hgvs_p": "p.Asp305Tyr",
"transcript": "XM_011527340.2",
"protein_id": "XP_011525642.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 369,
"cds_start": 913,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 1594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.913G>T",
"hgvs_p": "p.Asp305Tyr",
"transcript": "XM_011527341.3",
"protein_id": "XP_011525643.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 369,
"cds_start": 913,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 1642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.892G>T",
"hgvs_p": "p.Asp298Tyr",
"transcript": "XM_024451729.2",
"protein_id": "XP_024307497.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 362,
"cds_start": 892,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.889G>T",
"hgvs_p": "p.Asp297Tyr",
"transcript": "XM_024451730.2",
"protein_id": "XP_024307498.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 361,
"cds_start": 889,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.763G>T",
"hgvs_p": "p.Asp255Tyr",
"transcript": "XM_011527346.2",
"protein_id": "XP_011525648.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 319,
"cds_start": 763,
"cds_end": null,
"cds_length": 960,
"cdna_start": 1127,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.763G>T",
"hgvs_p": "p.Asp255Tyr",
"transcript": "XM_047439463.1",
"protein_id": "XP_047295419.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 319,
"cds_start": 763,
"cds_end": null,
"cds_length": 960,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 1405,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.*800G>T",
"hgvs_p": null,
"transcript": "ENST00000377092.8",
"protein_id": "ENSP00000366296.5",
"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": 1632,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.*714G>T",
"hgvs_p": null,
"transcript": "ENST00000525130.5",
"protein_id": "ENSP00000433492.1",
"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": 1538,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.*717G>T",
"hgvs_p": null,
"transcript": "ENST00000525370.5",
"protein_id": "ENSP00000431420.1",
"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": 1483,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.1161G>T",
"hgvs_p": null,
"transcript": "NR_033269.2",
"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": 1643,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.1435G>T",
"hgvs_p": null,
"transcript": "XR_007067015.1",
"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": 1917,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.*46G>T",
"hgvs_p": null,
"transcript": "ENST00000529634.2",
"protein_id": "ENSP00000432148.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": -4,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 679,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.*800G>T",
"hgvs_p": null,
"transcript": "ENST00000377092.8",
"protein_id": "ENSP00000366296.5",
"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": 1632,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.*714G>T",
"hgvs_p": null,
"transcript": "ENST00000525130.5",
"protein_id": "ENSP00000433492.1",
"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": 1538,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.*717G>T",
"hgvs_p": null,
"transcript": "ENST00000525370.5",
"protein_id": "ENSP00000431420.1",
"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": 1483,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.*46G>T",
"hgvs_p": null,
"transcript": "XM_011527343.2",
"protein_id": "XP_011525645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1776,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.*67G>T",
"hgvs_p": null,
"transcript": "XM_047439462.1",
"protein_id": "XP_047295418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 352,
"cds_start": -4,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A1",
"gene_hgnc_id": 561,
"hgvs_c": "c.*590C>A",
"hgvs_p": null,
"transcript": "NM_130787.3",
"protein_id": "NP_570603.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 955,
"cds_start": -4,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3357,
"mane_select": "ENST00000354293.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A1",
"gene_hgnc_id": 561,
"hgvs_c": "c.*590C>A",
"hgvs_p": null,
"transcript": "ENST00000354293.10",
"protein_id": "ENSP00000346246.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 955,
"cds_start": -4,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3357,
"mane_select": "NM_130787.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A1",
"gene_hgnc_id": 561,
"hgvs_c": "c.*590C>A",
"hgvs_p": null,
"transcript": "ENST00000359032.10",
"protein_id": "ENSP00000351926.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A1",
"gene_hgnc_id": 561,
"hgvs_c": "c.*590C>A",
"hgvs_p": null,
"transcript": "NM_014203.3",
"protein_id": "NP_055018.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A1",
"gene_hgnc_id": 561,
"hgvs_c": "n.*235C>A",
"hgvs_p": null,
"transcript": "ENST00000601356.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A1",
"gene_hgnc_id": 561,
"hgvs_c": "c.*590C>A",
"hgvs_p": null,
"transcript": "XM_011526556.3",
"protein_id": "XP_011524858.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 994,
"cds_start": -4,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2A1",
"gene_hgnc_id": 561,
"hgvs_c": "c.*590C>A",
"hgvs_p": null,
"transcript": "XM_011526557.4",
"protein_id": "XP_011524859.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 972,
"cds_start": -4,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.*67G>T",
"hgvs_p": null,
"transcript": "XM_017027320.2",
"protein_id": "XP_016882809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"dbsnp": "rs139365610",
"frequency_reference_population": 0.000015495054,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000136869,
"gnomad_genomes_af": 0.0000328584,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2342437505722046,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.136,
"revel_prediction": "Benign",
"alphamissense_score": 0.1108,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.021,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000313777.9",
"gene_symbol": "FUZ",
"hgnc_id": 26219,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.1060G>T",
"hgvs_p": "p.Asp354Tyr"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000354293.10",
"gene_symbol": "AP2A1",
"hgnc_id": 561,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*590C>A",
"hgvs_p": null
}
],
"clinvar_disease": " susceptibility to,Neural tube defects",
"clinvar_classification": "risk factor",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Neural tube defects, susceptibility to",
"pathogenicity_classification_combined": "risk factor",
"custom_annotations": null
}
],
"message": null
}