← 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: 2-200612648-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=200612648&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 200612648,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001159.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1303G>T",
"hgvs_p": "p.Glu435*",
"transcript": "NM_001159.4",
"protein_id": "NP_001150.3",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 1338,
"cds_start": 1303,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374700.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159.4"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1303G>T",
"hgvs_p": "p.Glu435*",
"transcript": "ENST00000374700.7",
"protein_id": "ENSP00000363832.2",
"transcript_support_level": 1,
"aa_start": 435,
"aa_end": null,
"aa_length": 1338,
"cds_start": 1303,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001159.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374700.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "n.212G>T",
"hgvs_p": null,
"transcript": "ENST00000485106.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485106.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1303G>T",
"hgvs_p": "p.Glu435*",
"transcript": "ENST00000854909.1",
"protein_id": "ENSP00000524968.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 1364,
"cds_start": 1303,
"cds_end": null,
"cds_length": 4095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854909.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1321G>T",
"hgvs_p": "p.Glu441*",
"transcript": "ENST00000854911.1",
"protein_id": "ENSP00000524970.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 1344,
"cds_start": 1321,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854911.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1300G>T",
"hgvs_p": "p.Glu434*",
"transcript": "ENST00000854903.1",
"protein_id": "ENSP00000524962.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1337,
"cds_start": 1300,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854903.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1300G>T",
"hgvs_p": "p.Glu434*",
"transcript": "ENST00000854908.1",
"protein_id": "ENSP00000524967.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 1337,
"cds_start": 1300,
"cds_end": null,
"cds_length": 4014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854908.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1303G>T",
"hgvs_p": "p.Glu435*",
"transcript": "ENST00000854915.1",
"protein_id": "ENSP00000524974.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 1336,
"cds_start": 1303,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854915.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1303G>T",
"hgvs_p": "p.Glu435*",
"transcript": "ENST00000854905.1",
"protein_id": "ENSP00000524964.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 1316,
"cds_start": 1303,
"cds_end": null,
"cds_length": 3951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854905.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1303G>T",
"hgvs_p": "p.Glu435*",
"transcript": "ENST00000854914.1",
"protein_id": "ENSP00000524973.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 1309,
"cds_start": 1303,
"cds_end": null,
"cds_length": 3930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854914.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1213G>T",
"hgvs_p": "p.Glu405*",
"transcript": "ENST00000854910.1",
"protein_id": "ENSP00000524969.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 1308,
"cds_start": 1213,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854910.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1210G>T",
"hgvs_p": "p.Glu404*",
"transcript": "ENST00000854916.1",
"protein_id": "ENSP00000524975.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 1307,
"cds_start": 1210,
"cds_end": null,
"cds_length": 3924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854916.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1303G>T",
"hgvs_p": "p.Glu435*",
"transcript": "ENST00000854913.1",
"protein_id": "ENSP00000524972.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 1296,
"cds_start": 1303,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854913.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1303G>T",
"hgvs_p": "p.Glu435*",
"transcript": "ENST00000854904.1",
"protein_id": "ENSP00000524963.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 1294,
"cds_start": 1303,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854904.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1144G>T",
"hgvs_p": "p.Glu382*",
"transcript": "ENST00000956221.1",
"protein_id": "ENSP00000626280.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 1285,
"cds_start": 1144,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956221.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1303G>T",
"hgvs_p": "p.Glu435*",
"transcript": "ENST00000956222.1",
"protein_id": "ENSP00000626281.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 1274,
"cds_start": 1303,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956222.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1303G>T",
"hgvs_p": "p.Glu435*",
"transcript": "ENST00000854912.1",
"protein_id": "ENSP00000524971.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 1253,
"cds_start": 1303,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854912.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1039G>T",
"hgvs_p": "p.Glu347*",
"transcript": "ENST00000854906.1",
"protein_id": "ENSP00000524965.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 1250,
"cds_start": 1039,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854906.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1303G>T",
"hgvs_p": "p.Glu435*",
"transcript": "XM_011511062.2",
"protein_id": "XP_011509364.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 1350,
"cds_start": 1303,
"cds_end": null,
"cds_length": 4053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511062.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1303G>T",
"hgvs_p": "p.Glu435*",
"transcript": "XM_017003946.2",
"protein_id": "XP_016859435.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 1328,
"cds_start": 1303,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003946.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1303G>T",
"hgvs_p": "p.Glu435*",
"transcript": "XM_017003947.3",
"protein_id": "XP_016859436.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 1316,
"cds_start": 1303,
"cds_end": null,
"cds_length": 3951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003947.3"
},
{
"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": 27,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.1153+3234G>T",
"hgvs_p": null,
"transcript": "ENST00000854907.1",
"protein_id": "ENSP00000524966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 982,
"cds_start": null,
"cds_end": null,
"cds_length": 2949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854907.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "n.235G>T",
"hgvs_p": null,
"transcript": "ENST00000465297.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000465297.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "n.356G>T",
"hgvs_p": null,
"transcript": "ENST00000485965.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000485965.5"
},
{
"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": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "n.1398G>T",
"hgvs_p": null,
"transcript": "XR_007073113.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007073113.1"
}
],
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"dbsnp": "rs1477876544",
"frequency_reference_population": 0.000003097955,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.0000027364,
"gnomad_genomes_af": 0.00000657065,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6299999952316284,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.63,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.385,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001159.4",
"gene_symbol": "AOX1",
"hgnc_id": 553,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1303G>T",
"hgvs_p": "p.Glu435*"
}
],
"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
}