← 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: 2-200661607-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=200661607&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 200661607,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001159.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3404A>C",
"hgvs_p": "p.Asn1135Thr",
"transcript": "NM_001159.4",
"protein_id": "NP_001150.3",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1338,
"cds_start": 3404,
"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": "N",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3404A>C",
"hgvs_p": "p.Asn1135Thr",
"transcript": "ENST00000374700.7",
"protein_id": "ENSP00000363832.2",
"transcript_support_level": 1,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1338,
"cds_start": 3404,
"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": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "n.2143A>C",
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3482A>C",
"hgvs_p": "p.Asn1161Thr",
"transcript": "ENST00000854909.1",
"protein_id": "ENSP00000524968.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3482,
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3422A>C",
"hgvs_p": "p.Asn1141Thr",
"transcript": "ENST00000854911.1",
"protein_id": "ENSP00000524970.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1344,
"cds_start": 3422,
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3401A>C",
"hgvs_p": "p.Asn1134Thr",
"transcript": "ENST00000854903.1",
"protein_id": "ENSP00000524962.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3401,
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3401A>C",
"hgvs_p": "p.Asn1134Thr",
"transcript": "ENST00000854908.1",
"protein_id": "ENSP00000524967.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3401,
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3398A>C",
"hgvs_p": "p.Asn1133Thr",
"transcript": "ENST00000854915.1",
"protein_id": "ENSP00000524974.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1336,
"cds_start": 3398,
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3404A>C",
"hgvs_p": "p.Asn1135Thr",
"transcript": "ENST00000854905.1",
"protein_id": "ENSP00000524964.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3404,
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3317A>C",
"hgvs_p": "p.Asn1106Thr",
"transcript": "ENST00000854914.1",
"protein_id": "ENSP00000524973.1",
"transcript_support_level": null,
"aa_start": 1106,
"aa_end": null,
"aa_length": 1309,
"cds_start": 3317,
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3314A>C",
"hgvs_p": "p.Asn1105Thr",
"transcript": "ENST00000854910.1",
"protein_id": "ENSP00000524969.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1308,
"cds_start": 3314,
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3311A>C",
"hgvs_p": "p.Asn1104Thr",
"transcript": "ENST00000854916.1",
"protein_id": "ENSP00000524975.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1307,
"cds_start": 3311,
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3278A>C",
"hgvs_p": "p.Asn1093Thr",
"transcript": "ENST00000854913.1",
"protein_id": "ENSP00000524972.1",
"transcript_support_level": null,
"aa_start": 1093,
"aa_end": null,
"aa_length": 1296,
"cds_start": 3278,
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3404A>C",
"hgvs_p": "p.Asn1135Thr",
"transcript": "ENST00000854904.1",
"protein_id": "ENSP00000524963.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3404,
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3245A>C",
"hgvs_p": "p.Asn1082Thr",
"transcript": "ENST00000956221.1",
"protein_id": "ENSP00000626280.1",
"transcript_support_level": null,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3245,
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3212A>C",
"hgvs_p": "p.Asn1071Thr",
"transcript": "ENST00000956222.1",
"protein_id": "ENSP00000626281.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1274,
"cds_start": 3212,
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3404A>C",
"hgvs_p": "p.Asn1135Thr",
"transcript": "ENST00000854912.1",
"protein_id": "ENSP00000524971.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3404,
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3140A>C",
"hgvs_p": "p.Asn1047Thr",
"transcript": "ENST00000854906.1",
"protein_id": "ENSP00000524965.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3140,
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.2336A>C",
"hgvs_p": "p.Asn779Thr",
"transcript": "ENST00000854907.1",
"protein_id": "ENSP00000524966.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 982,
"cds_start": 2336,
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.62A>C",
"hgvs_p": "p.Asn21Thr",
"transcript": "ENST00000260930.10",
"protein_id": "ENSP00000260930.6",
"transcript_support_level": 5,
"aa_start": 21,
"aa_end": null,
"aa_length": 192,
"cds_start": 62,
"cds_end": null,
"cds_length": 580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260930.10"
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3404A>C",
"hgvs_p": "p.Asn1135Thr",
"transcript": "XM_011511062.2",
"protein_id": "XP_011509364.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1350,
"cds_start": 3404,
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3404A>C",
"hgvs_p": "p.Asn1135Thr",
"transcript": "XM_017003946.2",
"protein_id": "XP_016859435.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3404,
"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": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "c.3404A>C",
"hgvs_p": "p.Asn1135Thr",
"transcript": "XM_017003947.3",
"protein_id": "XP_016859436.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1316,
"cds_start": 3404,
"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": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "n.2336A>C",
"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": 30,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AOX1",
"gene_hgnc_id": 553,
"hgvs_c": "n.3499A>C",
"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": "rs55754655",
"frequency_reference_population": 6.851014e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85101e-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": 0.3835342526435852,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.18,
"revel_prediction": "Benign",
"alphamissense_score": 0.1297,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.191,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001159.4",
"gene_symbol": "AOX1",
"hgnc_id": 553,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3404A>C",
"hgvs_p": "p.Asn1135Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}