← 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: 2-69338460-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=69338460&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 69338460,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001244710.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1309T>A",
"hgvs_p": "p.Phe437Ile",
"transcript": "NM_001244710.2",
"protein_id": "NP_001231639.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 699,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 8665,
"mane_select": "ENST00000357308.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244710.2"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1309T>A",
"hgvs_p": "p.Phe437Ile",
"transcript": "ENST00000357308.9",
"protein_id": "ENSP00000349860.4",
"transcript_support_level": 5,
"aa_start": 437,
"aa_end": null,
"aa_length": 699,
"cds_start": 1309,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 8665,
"mane_select": "NM_001244710.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357308.9"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1255T>A",
"hgvs_p": "p.Phe419Ile",
"transcript": "ENST00000361060.5",
"protein_id": "ENSP00000354347.4",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 681,
"cds_start": 1255,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 8632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361060.5"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1357T>A",
"hgvs_p": "p.Phe453Ile",
"transcript": "ENST00000955842.1",
"protein_id": "ENSP00000625901.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 715,
"cds_start": 1357,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 6818,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955842.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1339T>A",
"hgvs_p": "p.Phe447Ile",
"transcript": "ENST00000955849.1",
"protein_id": "ENSP00000625908.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 709,
"cds_start": 1339,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955849.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1303T>A",
"hgvs_p": "p.Phe435Ile",
"transcript": "ENST00000852904.1",
"protein_id": "ENSP00000522963.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 697,
"cds_start": 1303,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852904.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1255T>A",
"hgvs_p": "p.Phe419Ile",
"transcript": "NM_002056.4",
"protein_id": "NP_002047.2",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 681,
"cds_start": 1255,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 8611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002056.4"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1252T>A",
"hgvs_p": "p.Phe418Ile",
"transcript": "ENST00000852902.1",
"protein_id": "ENSP00000522961.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 680,
"cds_start": 1252,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 4696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852902.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1201T>A",
"hgvs_p": "p.Phe401Ile",
"transcript": "ENST00000852899.1",
"protein_id": "ENSP00000522958.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 663,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 6681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852899.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1201T>A",
"hgvs_p": "p.Phe401Ile",
"transcript": "ENST00000955848.1",
"protein_id": "ENSP00000625907.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 663,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 3052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955848.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1183T>A",
"hgvs_p": "p.Phe395Ile",
"transcript": "ENST00000955843.1",
"protein_id": "ENSP00000625902.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 657,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955843.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1159T>A",
"hgvs_p": "p.Phe387Ile",
"transcript": "ENST00000955847.1",
"protein_id": "ENSP00000625906.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 649,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955847.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1147T>A",
"hgvs_p": "p.Phe383Ile",
"transcript": "ENST00000852901.1",
"protein_id": "ENSP00000522960.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 645,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 4597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852901.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1147T>A",
"hgvs_p": "p.Phe383Ile",
"transcript": "ENST00000852903.1",
"protein_id": "ENSP00000522962.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 645,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 4591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852903.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1309T>A",
"hgvs_p": "p.Phe437Ile",
"transcript": "ENST00000955845.1",
"protein_id": "ENSP00000625904.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 643,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955845.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1129T>A",
"hgvs_p": "p.Phe377Ile",
"transcript": "ENST00000852900.1",
"protein_id": "ENSP00000522959.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 639,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 4640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852900.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1093T>A",
"hgvs_p": "p.Phe365Ile",
"transcript": "ENST00000955846.1",
"protein_id": "ENSP00000625905.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 627,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955846.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1255T>A",
"hgvs_p": "p.Phe419Ile",
"transcript": "ENST00000674507.1",
"protein_id": "ENSP00000501332.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 625,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 5906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674507.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1309T>A",
"hgvs_p": "p.Phe437Ile",
"transcript": "ENST00000955850.1",
"protein_id": "ENSP00000625909.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 618,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955850.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1039T>A",
"hgvs_p": "p.Phe347Ile",
"transcript": "ENST00000674438.1",
"protein_id": "ENSP00000501469.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 609,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 2655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674438.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.985T>A",
"hgvs_p": "p.Phe329Ile",
"transcript": "ENST00000852906.1",
"protein_id": "ENSP00000522965.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 591,
"cds_start": 985,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 2778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852906.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1255T>A",
"hgvs_p": "p.Phe419Ile",
"transcript": "ENST00000852905.1",
"protein_id": "ENSP00000522964.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 590,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852905.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.523T>A",
"hgvs_p": "p.Phe175Ile",
"transcript": "ENST00000955844.1",
"protein_id": "ENSP00000625903.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 437,
"cds_start": 523,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955844.1"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1384T>A",
"hgvs_p": "p.Phe462Ile",
"transcript": "XM_017003801.2",
"protein_id": "XP_016859290.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 724,
"cds_start": 1384,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 8662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003801.2"
},
{
"aa_ref": "F",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1330T>A",
"hgvs_p": "p.Phe444Ile",
"transcript": "XM_017003802.3",
"protein_id": "XP_016859291.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 706,
"cds_start": 1330,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 8604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003802.3"
},
{
"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": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"hgvs_c": "c.1149+3692T>A",
"hgvs_p": null,
"transcript": "ENST00000912110.1",
"protein_id": "ENSP00000582169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 588,
"cds_start": null,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912110.1"
}
],
"gene_symbol": "GFPT1",
"gene_hgnc_id": 4241,
"dbsnp": "rs766450555",
"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": 0.7362170219421387,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.671,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8275,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.299,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5,PP2",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM5",
"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001244710.2",
"gene_symbol": "GFPT1",
"hgnc_id": 4241,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1309T>A",
"hgvs_p": "p.Phe437Ile"
}
],
"clinvar_disease": "Congenital myasthenic syndrome 12",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Congenital myasthenic syndrome 12",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}