← 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: 2-241666708-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=241666708&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 241666708,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_013325.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.602G>C",
"hgvs_p": "p.Arg201Pro",
"transcript": "NM_013325.5",
"protein_id": "NP_037457.3",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 393,
"cds_start": 602,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": "ENST00000404914.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013325.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.602G>C",
"hgvs_p": "p.Arg201Pro",
"transcript": "ENST00000404914.8",
"protein_id": "ENSP00000384259.3",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 393,
"cds_start": 602,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": "NM_013325.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404914.8"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "n.682G>C",
"hgvs_p": null,
"transcript": "ENST00000482507.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2414,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482507.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.785G>C",
"hgvs_p": "p.Arg262Pro",
"transcript": "ENST00000902606.1",
"protein_id": "ENSP00000572665.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 454,
"cds_start": 785,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 2985,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902606.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.644G>C",
"hgvs_p": "p.Arg215Pro",
"transcript": "ENST00000902610.1",
"protein_id": "ENSP00000572669.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 407,
"cds_start": 644,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902610.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.602G>C",
"hgvs_p": "p.Arg201Pro",
"transcript": "ENST00000951473.1",
"protein_id": "ENSP00000621532.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 392,
"cds_start": 602,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951473.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.590G>C",
"hgvs_p": "p.Arg197Pro",
"transcript": "ENST00000951475.1",
"protein_id": "ENSP00000621534.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 389,
"cds_start": 590,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 1562,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951475.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.602G>C",
"hgvs_p": "p.Arg201Pro",
"transcript": "ENST00000902611.1",
"protein_id": "ENSP00000572670.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 388,
"cds_start": 602,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 1264,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902611.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.602G>C",
"hgvs_p": "p.Arg201Pro",
"transcript": "NM_178326.3",
"protein_id": "NP_847896.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 380,
"cds_start": 602,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 2817,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178326.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.602G>C",
"hgvs_p": "p.Arg201Pro",
"transcript": "ENST00000405546.7",
"protein_id": "ENSP00000383964.3",
"transcript_support_level": 2,
"aa_start": 201,
"aa_end": null,
"aa_length": 380,
"cds_start": 602,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405546.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.530G>C",
"hgvs_p": "p.Arg177Pro",
"transcript": "ENST00000902605.1",
"protein_id": "ENSP00000572664.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 369,
"cds_start": 530,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902605.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.518G>C",
"hgvs_p": "p.Arg173Pro",
"transcript": "ENST00000929774.1",
"protein_id": "ENSP00000599833.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 365,
"cds_start": 518,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 2717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929774.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.503G>C",
"hgvs_p": "p.Arg168Pro",
"transcript": "ENST00000902608.1",
"protein_id": "ENSP00000572667.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 360,
"cds_start": 503,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902608.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.497G>C",
"hgvs_p": "p.Arg166Pro",
"transcript": "ENST00000902607.1",
"protein_id": "ENSP00000572666.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 358,
"cds_start": 497,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 2692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902607.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.431G>C",
"hgvs_p": "p.Arg144Pro",
"transcript": "ENST00000951476.1",
"protein_id": "ENSP00000621535.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 336,
"cds_start": 431,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 1400,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951476.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.428G>C",
"hgvs_p": "p.Arg143Pro",
"transcript": "ENST00000902609.1",
"protein_id": "ENSP00000572668.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 335,
"cds_start": 428,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 2609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902609.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.380G>C",
"hgvs_p": "p.Arg127Pro",
"transcript": "ENST00000402096.5",
"protein_id": "ENSP00000384661.1",
"transcript_support_level": 2,
"aa_start": 127,
"aa_end": null,
"aa_length": 331,
"cds_start": 380,
"cds_end": null,
"cds_length": 996,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402096.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.602G>C",
"hgvs_p": "p.Arg201Pro",
"transcript": "ENST00000929775.1",
"protein_id": "ENSP00000599834.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 318,
"cds_start": 602,
"cds_end": null,
"cds_length": 957,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 2576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929775.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.350G>C",
"hgvs_p": "p.Arg117Pro",
"transcript": "ENST00000929777.1",
"protein_id": "ENSP00000599836.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 309,
"cds_start": 350,
"cds_end": null,
"cds_length": 930,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 2545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929777.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.380G>C",
"hgvs_p": "p.Arg127Pro",
"transcript": "ENST00000419606.6",
"protein_id": "ENSP00000400050.2",
"transcript_support_level": 4,
"aa_start": 127,
"aa_end": null,
"aa_length": 306,
"cds_start": 380,
"cds_end": null,
"cds_length": 921,
"cdna_start": 734,
"cdna_end": null,
"cdna_length": 1275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419606.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.248G>C",
"hgvs_p": "p.Arg83Pro",
"transcript": "ENST00000929776.1",
"protein_id": "ENSP00000599835.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 275,
"cds_start": 248,
"cds_end": null,
"cds_length": 828,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 2444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929776.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.176G>C",
"hgvs_p": "p.Arg59Pro",
"transcript": "ENST00000951474.1",
"protein_id": "ENSP00000621533.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 251,
"cds_start": 176,
"cds_end": null,
"cds_length": 756,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951474.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.449G>C",
"hgvs_p": "p.Arg150Pro",
"transcript": "ENST00000400771.7",
"protein_id": "ENSP00000383582.3",
"transcript_support_level": 5,
"aa_start": 150,
"aa_end": null,
"aa_length": 218,
"cds_start": 449,
"cds_end": null,
"cds_length": 658,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400771.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.602G>C",
"hgvs_p": "p.Arg201Pro",
"transcript": "XM_005246992.5",
"protein_id": "XP_005247049.2",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 415,
"cds_start": 602,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 3582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246992.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.503G>C",
"hgvs_p": "p.Arg168Pro",
"transcript": "XM_047443738.1",
"protein_id": "XP_047299694.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 382,
"cds_start": 503,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 3483,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443738.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.503G>C",
"hgvs_p": "p.Arg168Pro",
"transcript": "XM_047443739.1",
"protein_id": "XP_047299695.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 360,
"cds_start": 503,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 525,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443739.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.380G>C",
"hgvs_p": "p.Arg127Pro",
"transcript": "XM_047443740.1",
"protein_id": "XP_047299696.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 341,
"cds_start": 380,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 3530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443740.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.380G>C",
"hgvs_p": "p.Arg127Pro",
"transcript": "XM_047443742.1",
"protein_id": "XP_047299698.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 341,
"cds_start": 380,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 3767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443742.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "c.380G>C",
"hgvs_p": "p.Arg127Pro",
"transcript": "XM_047443741.1",
"protein_id": "XP_047299697.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 319,
"cds_start": 380,
"cds_end": null,
"cds_length": 960,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443741.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "n.*428G>C",
"hgvs_p": null,
"transcript": "ENST00000344376.10",
"protein_id": "ENSP00000344960.6",
"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": 1563,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000344376.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "n.113G>C",
"hgvs_p": null,
"transcript": "ENST00000428861.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000428861.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "n.463G>C",
"hgvs_p": null,
"transcript": "ENST00000429899.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 524,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000429899.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "n.665G>C",
"hgvs_p": null,
"transcript": "ENST00000494465.5",
"protein_id": null,
"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": 2365,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494465.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"hgvs_c": "n.*428G>C",
"hgvs_p": null,
"transcript": "ENST00000344376.10",
"protein_id": "ENSP00000344960.6",
"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": 1563,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000344376.10"
}
],
"gene_symbol": "ATG4B",
"gene_hgnc_id": 20790,
"dbsnp": "rs760147245",
"frequency_reference_population": 6.846295e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.8463e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11592873930931091,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.09,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.084,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013325.5",
"gene_symbol": "ATG4B",
"hgnc_id": 20790,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.602G>C",
"hgvs_p": "p.Arg201Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}