← 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: 16-5084767-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=5084767&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 5084767,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_019109.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1281T>C",
"hgvs_p": "p.Phe427Phe",
"transcript": "NM_019109.5",
"protein_id": "NP_061982.3",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 464,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": "ENST00000262374.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019109.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1281T>C",
"hgvs_p": "p.Phe427Phe",
"transcript": "ENST00000262374.10",
"protein_id": "ENSP00000262374.5",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 464,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": "NM_019109.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262374.10"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.948T>C",
"hgvs_p": "p.Phe316Phe",
"transcript": "ENST00000588623.5",
"protein_id": "ENSP00000468118.1",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 353,
"cds_start": 948,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588623.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2KMT",
"gene_hgnc_id": 32221,
"hgvs_c": "c.*865A>G",
"hgvs_p": null,
"transcript": "NM_201400.4",
"protein_id": "NP_958802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": null,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2397,
"mane_select": "ENST00000427587.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201400.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2KMT",
"gene_hgnc_id": 32221,
"hgvs_c": "c.*865A>G",
"hgvs_p": null,
"transcript": "ENST00000427587.9",
"protein_id": "ENSP00000398502.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": null,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2397,
"mane_select": "NM_201400.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427587.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2KMT",
"gene_hgnc_id": 32221,
"hgvs_c": "c.*865A>G",
"hgvs_p": null,
"transcript": "ENST00000458008.8",
"protein_id": "ENSP00000389710.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": null,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458008.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*1182T>C",
"hgvs_p": null,
"transcript": "ENST00000591822.5",
"protein_id": "ENSP00000467865.1",
"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": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000591822.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*1182T>C",
"hgvs_p": null,
"transcript": "ENST00000591822.5",
"protein_id": "ENSP00000467865.1",
"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": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000591822.5"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1314T>C",
"hgvs_p": "p.Phe438Phe",
"transcript": "ENST00000940711.1",
"protein_id": "ENSP00000610770.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 475,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 2148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940711.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1305T>C",
"hgvs_p": "p.Phe435Phe",
"transcript": "ENST00000902497.1",
"protein_id": "ENSP00000572556.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 472,
"cds_start": 1305,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902497.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1272T>C",
"hgvs_p": "p.Phe424Phe",
"transcript": "ENST00000940712.1",
"protein_id": "ENSP00000610771.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 461,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 1913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940712.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1245T>C",
"hgvs_p": "p.Phe415Phe",
"transcript": "ENST00000961949.1",
"protein_id": "ENSP00000632008.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 452,
"cds_start": 1245,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961949.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1242T>C",
"hgvs_p": "p.Phe414Phe",
"transcript": "NM_001438123.1",
"protein_id": "NP_001425052.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 451,
"cds_start": 1242,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 3861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438123.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1242T>C",
"hgvs_p": "p.Phe414Phe",
"transcript": "ENST00000684190.1",
"protein_id": "ENSP00000507554.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 451,
"cds_start": 1242,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 2051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684190.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1221T>C",
"hgvs_p": "p.Phe407Phe",
"transcript": "ENST00000902499.1",
"protein_id": "ENSP00000572558.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 444,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 1498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902499.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1170T>C",
"hgvs_p": "p.Phe390Phe",
"transcript": "ENST00000684335.1",
"protein_id": "ENSP00000508112.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 427,
"cds_start": 1170,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684335.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1170T>C",
"hgvs_p": "p.Phe390Phe",
"transcript": "ENST00000902498.1",
"protein_id": "ENSP00000572557.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 427,
"cds_start": 1170,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902498.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1131T>C",
"hgvs_p": "p.Phe377Phe",
"transcript": "ENST00000961948.1",
"protein_id": "ENSP00000632007.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 414,
"cds_start": 1131,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961948.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1110T>C",
"hgvs_p": "p.Phe370Phe",
"transcript": "ENST00000940713.1",
"protein_id": "ENSP00000610772.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 407,
"cds_start": 1110,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940713.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.948T>C",
"hgvs_p": "p.Phe316Phe",
"transcript": "NM_001330504.2",
"protein_id": "NP_001317433.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 353,
"cds_start": 948,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330504.2"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.948T>C",
"hgvs_p": "p.Phe316Phe",
"transcript": "ENST00000544428.1",
"protein_id": "ENSP00000440019.1",
"transcript_support_level": 2,
"aa_start": 316,
"aa_end": null,
"aa_length": 353,
"cds_start": 948,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 1419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544428.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.948T>C",
"hgvs_p": "p.Phe316Phe",
"transcript": "ENST00000683739.1",
"protein_id": "ENSP00000507002.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 353,
"cds_start": 948,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683739.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.792T>C",
"hgvs_p": "p.Phe264Phe",
"transcript": "ENST00000682985.1",
"protein_id": "ENSP00000507598.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 301,
"cds_start": 792,
"cds_end": null,
"cds_length": 906,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682985.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.753T>C",
"hgvs_p": "p.Phe251Phe",
"transcript": "ENST00000682327.1",
"protein_id": "ENSP00000507058.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 288,
"cds_start": 753,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 3395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682327.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.687T>C",
"hgvs_p": "p.Phe229Phe",
"transcript": "ENST00000682020.1",
"protein_id": "ENSP00000508075.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 266,
"cds_start": 687,
"cds_end": null,
"cds_length": 801,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 2519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682020.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.540T>C",
"hgvs_p": "p.Phe180Phe",
"transcript": "ENST00000683433.1",
"protein_id": "ENSP00000507463.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 217,
"cds_start": 540,
"cds_end": null,
"cds_length": 654,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 2345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683433.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2KMT",
"gene_hgnc_id": 32221,
"hgvs_c": "c.*865A>G",
"hgvs_p": null,
"transcript": "ENST00000940846.1",
"protein_id": "ENSP00000610905.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": null,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940846.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2KMT",
"gene_hgnc_id": 32221,
"hgvs_c": "c.*865A>G",
"hgvs_p": null,
"transcript": "ENST00000902788.1",
"protein_id": "ENSP00000572847.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902788.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2KMT",
"gene_hgnc_id": 32221,
"hgvs_c": "c.*865A>G",
"hgvs_p": null,
"transcript": "NM_201598.4",
"protein_id": "NP_963892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": null,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201598.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2KMT",
"gene_hgnc_id": 32221,
"hgvs_c": "c.*865A>G",
"hgvs_p": null,
"transcript": "NM_001289029.2",
"protein_id": "NP_001275958.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": null,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289029.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2KMT",
"gene_hgnc_id": 32221,
"hgvs_c": "c.*865A>G",
"hgvs_p": null,
"transcript": "XM_005255157.5",
"protein_id": "XP_005255214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2316,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255157.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2KMT",
"gene_hgnc_id": 32221,
"hgvs_c": "c.*865A>G",
"hgvs_p": null,
"transcript": "XM_005255158.5",
"protein_id": "XP_005255215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": null,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005255158.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2KMT",
"gene_hgnc_id": 32221,
"hgvs_c": "c.*865A>G",
"hgvs_p": null,
"transcript": "XM_011522404.3",
"protein_id": "XP_011520706.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 230,
"cds_start": null,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522404.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "EEF2KMT",
"gene_hgnc_id": 32221,
"hgvs_c": "n.*1366A>G",
"hgvs_p": null,
"transcript": "ENST00000585436.5",
"protein_id": "ENSP00000464781.1",
"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": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000585436.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.3417T>C",
"hgvs_p": null,
"transcript": "ENST00000592793.6",
"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": 4182,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000592793.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*373T>C",
"hgvs_p": null,
"transcript": "ENST00000650085.1",
"protein_id": "ENSP00000507951.1",
"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": 2870,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650085.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*376T>C",
"hgvs_p": null,
"transcript": "ENST00000682206.1",
"protein_id": "ENSP00000508285.1",
"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": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682206.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.2337T>C",
"hgvs_p": null,
"transcript": "ENST00000682314.1",
"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": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000682314.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.3423T>C",
"hgvs_p": null,
"transcript": "ENST00000682349.1",
"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": 4188,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000682349.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.5257T>C",
"hgvs_p": null,
"transcript": "ENST00000682703.1",
"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": 5967,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000682703.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*373T>C",
"hgvs_p": null,
"transcript": "ENST00000682797.1",
"protein_id": "ENSP00000507582.1",
"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": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682797.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.3163T>C",
"hgvs_p": null,
"transcript": "ENST00000683685.1",
"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": 3873,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000683685.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*1248T>C",
"hgvs_p": null,
"transcript": "ENST00000683710.1",
"protein_id": "ENSP00000506785.1",
"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": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683710.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.2333T>C",
"hgvs_p": null,
"transcript": "ENST00000683772.1",
"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": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000683772.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*373T>C",
"hgvs_p": null,
"transcript": "ENST00000684008.1",
"protein_id": "ENSP00000507962.1",
"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": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000684008.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EEF2KMT",
"gene_hgnc_id": 32221,
"hgvs_c": "n.*1366A>G",
"hgvs_p": null,
"transcript": "ENST00000585436.5",
"protein_id": "ENSP00000464781.1",
"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": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000585436.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*373T>C",
"hgvs_p": null,
"transcript": "ENST00000650085.1",
"protein_id": "ENSP00000507951.1",
"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": 2870,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650085.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*376T>C",
"hgvs_p": null,
"transcript": "ENST00000682206.1",
"protein_id": "ENSP00000508285.1",
"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": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682206.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*373T>C",
"hgvs_p": null,
"transcript": "ENST00000682797.1",
"protein_id": "ENSP00000507582.1",
"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": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682797.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*1248T>C",
"hgvs_p": null,
"transcript": "ENST00000683710.1",
"protein_id": "ENSP00000506785.1",
"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": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000683710.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*373T>C",
"hgvs_p": null,
"transcript": "ENST00000684008.1",
"protein_id": "ENSP00000507962.1",
"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": 1984,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000684008.1"
}
],
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"dbsnp": "rs538385814",
"frequency_reference_population": 0.00002505597,
"hom_count_reference_population": 0,
"allele_count_reference_population": 40,
"gnomad_exomes_af": 0.0000131567,
"gnomad_genomes_af": 0.000137893,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 21,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6399999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.674,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_019109.5",
"gene_symbol": "ALG1",
"hgnc_id": 18294,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1281T>C",
"hgvs_p": "p.Phe427Phe"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NM_201400.4",
"gene_symbol": "EEF2KMT",
"hgnc_id": 32221,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*865A>G",
"hgvs_p": null
}
],
"clinvar_disease": "ALG1-congenital disorder of glycosylation,ALG1-related disorder,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not specified|ALG1-congenital disorder of glycosylation|ALG1-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}