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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: X-108134380-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=108134380&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 108134380,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_052936.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.436T>C",
"hgvs_p": "p.Phe146Leu",
"transcript": "NM_052936.5",
"protein_id": "NP_443168.2",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 398,
"cds_start": 436,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372232.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052936.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.436T>C",
"hgvs_p": "p.Phe146Leu",
"transcript": "ENST00000372232.8",
"protein_id": "ENSP00000361306.3",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 398,
"cds_start": 436,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052936.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372232.8"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.436T>C",
"hgvs_p": "p.Phe146Leu",
"transcript": "ENST00000345734.7",
"protein_id": "ENSP00000298131.5",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 336,
"cds_start": 436,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345734.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "n.*594T>C",
"hgvs_p": null,
"transcript": "ENST00000372246.7",
"protein_id": "ENSP00000361320.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000372246.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "n.*594T>C",
"hgvs_p": null,
"transcript": "ENST00000372246.7",
"protein_id": "ENSP00000361320.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000372246.7"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.436T>C",
"hgvs_p": "p.Phe146Leu",
"transcript": "ENST00000951604.1",
"protein_id": "ENSP00000621663.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 447,
"cds_start": 436,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951604.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.436T>C",
"hgvs_p": "p.Phe146Leu",
"transcript": "ENST00000951605.1",
"protein_id": "ENSP00000621664.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 405,
"cds_start": 436,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951605.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.436T>C",
"hgvs_p": "p.Phe146Leu",
"transcript": "ENST00000882247.1",
"protein_id": "ENSP00000552306.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 379,
"cds_start": 436,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882247.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.436T>C",
"hgvs_p": "p.Phe146Leu",
"transcript": "NM_178270.4",
"protein_id": "NP_840054.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 336,
"cds_start": 436,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178270.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu",
"transcript": "NM_001321287.2",
"protein_id": "NP_001308216.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 321,
"cds_start": 205,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321287.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu",
"transcript": "NM_001321288.2",
"protein_id": "NP_001308217.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 321,
"cds_start": 205,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321288.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu",
"transcript": "NM_178271.3",
"protein_id": "NP_840055.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 321,
"cds_start": 205,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178271.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.364T>C",
"hgvs_p": "p.Phe122Leu",
"transcript": "ENST00000882249.1",
"protein_id": "ENSP00000552308.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 312,
"cds_start": 364,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882249.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.352T>C",
"hgvs_p": "p.Phe118Leu",
"transcript": "ENST00000394892.2",
"protein_id": "ENSP00000378354.2",
"transcript_support_level": 3,
"aa_start": 118,
"aa_end": null,
"aa_length": 310,
"cds_start": 352,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394892.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu",
"transcript": "NM_001321289.2",
"protein_id": "NP_001308218.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 259,
"cds_start": 205,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321289.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu",
"transcript": "ENST00000457035.5",
"protein_id": "ENSP00000416218.1",
"transcript_support_level": 3,
"aa_start": 69,
"aa_end": null,
"aa_length": 201,
"cds_start": 205,
"cds_end": null,
"cds_length": 607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457035.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.448T>C",
"hgvs_p": "p.Phe150Leu",
"transcript": "XM_047441801.1",
"protein_id": "XP_047297757.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 402,
"cds_start": 448,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441801.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.448T>C",
"hgvs_p": "p.Phe150Leu",
"transcript": "XM_047441802.1",
"protein_id": "XP_047297758.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 340,
"cds_start": 448,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441802.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu",
"transcript": "XM_011530842.2",
"protein_id": "XP_011529144.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 321,
"cds_start": 205,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530842.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.205T>C",
"hgvs_p": "p.Phe69Leu",
"transcript": "XM_047441803.1",
"protein_id": "XP_047297759.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 321,
"cds_start": 205,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441803.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.-85T>C",
"hgvs_p": null,
"transcript": "NM_001321290.2",
"protein_id": "NP_001308219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 226,
"cds_start": null,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321290.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.394+222T>C",
"hgvs_p": null,
"transcript": "ENST00000882248.1",
"protein_id": "ENSP00000552307.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": null,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882248.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "c.394+222T>C",
"hgvs_p": null,
"transcript": "ENST00000951606.1",
"protein_id": "ENSP00000621665.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951606.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "n.485T>C",
"hgvs_p": null,
"transcript": "NR_135608.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135608.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"hgvs_c": "n.394+222T>C",
"hgvs_p": null,
"transcript": "ENST00000343524.9",
"protein_id": "ENSP00000341833.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000343524.9"
}
],
"gene_symbol": "ATG4A",
"gene_hgnc_id": 16489,
"dbsnp": null,
"frequency_reference_population": 9.1137434e-7,
"hom_count_reference_population": 1,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.11374e-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": 0.8858940005302429,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.368,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9988,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.298,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_052936.5",
"gene_symbol": "ATG4A",
"hgnc_id": 16489,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.436T>C",
"hgvs_p": "p.Phe146Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}