← 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: 16-5082636-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=5082636&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 5082636,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_019109.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1150G>C",
"hgvs_p": "p.Gly384Arg",
"transcript": "NM_019109.5",
"protein_id": "NP_061982.3",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 464,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": "ENST00000262374.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019109.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1150G>C",
"hgvs_p": "p.Gly384Arg",
"transcript": "ENST00000262374.10",
"protein_id": "ENSP00000262374.5",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 464,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": "NM_019109.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262374.10"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Gly273Arg",
"transcript": "ENST00000588623.5",
"protein_id": "ENSP00000468118.1",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 353,
"cds_start": 817,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1917,
"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": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*1051G>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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*1051G>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": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1150G>C",
"hgvs_p": "p.Gly384Arg",
"transcript": "ENST00000940711.1",
"protein_id": "ENSP00000610770.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 475,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 2148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940711.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1174G>C",
"hgvs_p": "p.Gly392Arg",
"transcript": "ENST00000902497.1",
"protein_id": "ENSP00000572556.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 472,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902497.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1141G>C",
"hgvs_p": "p.Gly381Arg",
"transcript": "ENST00000940712.1",
"protein_id": "ENSP00000610771.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 461,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 1913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940712.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1114G>C",
"hgvs_p": "p.Gly372Arg",
"transcript": "ENST00000961949.1",
"protein_id": "ENSP00000632008.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 452,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1139,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961949.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1111G>C",
"hgvs_p": "p.Gly371Arg",
"transcript": "NM_001438123.1",
"protein_id": "NP_001425052.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 451,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 3861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438123.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1111G>C",
"hgvs_p": "p.Gly371Arg",
"transcript": "ENST00000684190.1",
"protein_id": "ENSP00000507554.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 451,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 2051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684190.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1090G>C",
"hgvs_p": "p.Gly364Arg",
"transcript": "ENST00000902499.1",
"protein_id": "ENSP00000572558.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 444,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1091,
"cdna_end": null,
"cdna_length": 1498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902499.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1039G>C",
"hgvs_p": "p.Gly347Arg",
"transcript": "ENST00000684335.1",
"protein_id": "ENSP00000508112.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 427,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684335.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1039G>C",
"hgvs_p": "p.Gly347Arg",
"transcript": "ENST00000902498.1",
"protein_id": "ENSP00000572557.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 427,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902498.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.1000G>C",
"hgvs_p": "p.Gly334Arg",
"transcript": "ENST00000961948.1",
"protein_id": "ENSP00000632007.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 414,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961948.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.979G>C",
"hgvs_p": "p.Gly327Arg",
"transcript": "ENST00000940713.1",
"protein_id": "ENSP00000610772.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 407,
"cds_start": 979,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940713.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Gly273Arg",
"transcript": "NM_001330504.2",
"protein_id": "NP_001317433.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 353,
"cds_start": 817,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330504.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Gly273Arg",
"transcript": "ENST00000544428.1",
"protein_id": "ENSP00000440019.1",
"transcript_support_level": 2,
"aa_start": 273,
"aa_end": null,
"aa_length": 353,
"cds_start": 817,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 1419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544428.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.817G>C",
"hgvs_p": "p.Gly273Arg",
"transcript": "ENST00000683739.1",
"protein_id": "ENSP00000507002.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 353,
"cds_start": 817,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683739.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.661G>C",
"hgvs_p": "p.Gly221Arg",
"transcript": "ENST00000682985.1",
"protein_id": "ENSP00000507598.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 301,
"cds_start": 661,
"cds_end": null,
"cds_length": 906,
"cdna_start": 1772,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682985.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.622G>C",
"hgvs_p": "p.Gly208Arg",
"transcript": "ENST00000682327.1",
"protein_id": "ENSP00000507058.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 288,
"cds_start": 622,
"cds_end": null,
"cds_length": 867,
"cdna_start": 1733,
"cdna_end": null,
"cdna_length": 3395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682327.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.556G>C",
"hgvs_p": "p.Gly186Arg",
"transcript": "ENST00000682020.1",
"protein_id": "ENSP00000508075.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 266,
"cds_start": 556,
"cds_end": null,
"cds_length": 801,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 2519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682020.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.409G>C",
"hgvs_p": "p.Gly137Arg",
"transcript": "ENST00000683433.1",
"protein_id": "ENSP00000507463.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 217,
"cds_start": 409,
"cds_end": null,
"cds_length": 654,
"cdna_start": 1476,
"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": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.3286G>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": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*242G>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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*245G>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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.1198G>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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.3292G>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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.4118G>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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*242G>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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.2024G>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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*1117G>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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.1194G>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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*242G>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": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*242G>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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*245G>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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*242G>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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*1117G>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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*242G>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": "rs1057520122",
"frequency_reference_population": 0.0000148906465,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000157584,
"gnomad_genomes_af": 0.0000065697,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9791823029518127,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.89,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.944,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.767,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Moderate,PM1,PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PS1_Moderate",
"PM1",
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_019109.5",
"gene_symbol": "ALG1",
"hgnc_id": 18294,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1150G>C",
"hgvs_p": "p.Gly384Arg"
}
],
"clinvar_disease": "ALG1-congenital disorder of glycosylation,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "not provided|ALG1-congenital disorder of glycosylation",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}