← 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: 17-42950710-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42950710&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42950710,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001136042.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.1122A>T",
"hgvs_p": "p.Glu374Asp",
"transcript": "NM_001261434.2",
"protein_id": "NP_001248363.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 412,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000427569.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261434.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.1122A>T",
"hgvs_p": "p.Glu374Asp",
"transcript": "ENST00000427569.7",
"protein_id": "ENSP00000400870.1",
"transcript_support_level": 5,
"aa_start": 374,
"aa_end": null,
"aa_length": 412,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001261434.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427569.7"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGES3L-AARSD1",
"gene_hgnc_id": 43946,
"hgvs_c": "c.1515A>T",
"hgvs_p": "p.Glu505Asp",
"transcript": "ENST00000421990.7",
"protein_id": "ENSP00000409924.2",
"transcript_support_level": 2,
"aa_start": 505,
"aa_end": null,
"aa_length": 543,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421990.7"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGES3L-AARSD1",
"gene_hgnc_id": 43946,
"hgvs_c": "c.1644A>T",
"hgvs_p": "p.Glu548Asp",
"transcript": "NM_001136042.2",
"protein_id": "NP_001129514.2",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 586,
"cds_start": 1644,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136042.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGES3L-AARSD1",
"gene_hgnc_id": 43946,
"hgvs_c": "c.1515A>T",
"hgvs_p": "p.Glu505Asp",
"transcript": "ENST00000409399.6",
"protein_id": "ENSP00000386621.2",
"transcript_support_level": 5,
"aa_start": 505,
"aa_end": null,
"aa_length": 543,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409399.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGES3L-AARSD1",
"gene_hgnc_id": 43946,
"hgvs_c": "c.1461A>T",
"hgvs_p": "p.Glu487Asp",
"transcript": "NM_025267.4",
"protein_id": "NP_079543.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 525,
"cds_start": 1461,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025267.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGES3L-AARSD1",
"gene_hgnc_id": 43946,
"hgvs_c": "c.1461A>T",
"hgvs_p": "p.Glu487Asp",
"transcript": "ENST00000360221.8",
"protein_id": "ENSP00000353355.4",
"transcript_support_level": 2,
"aa_start": 487,
"aa_end": null,
"aa_length": 525,
"cds_start": 1461,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360221.8"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTGES3L-AARSD1",
"gene_hgnc_id": 43946,
"hgvs_c": "c.1371A>T",
"hgvs_p": "p.Glu457Asp",
"transcript": "ENST00000409103.5",
"protein_id": "ENSP00000386254.1",
"transcript_support_level": 5,
"aa_start": 457,
"aa_end": null,
"aa_length": 495,
"cds_start": 1371,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409103.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.1149A>T",
"hgvs_p": "p.Glu383Asp",
"transcript": "ENST00000871340.1",
"protein_id": "ENSP00000541399.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 421,
"cds_start": 1149,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871340.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.1119A>T",
"hgvs_p": "p.Glu373Asp",
"transcript": "ENST00000871341.1",
"protein_id": "ENSP00000541400.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 411,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871341.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.1113A>T",
"hgvs_p": "p.Glu371Asp",
"transcript": "ENST00000935094.1",
"protein_id": "ENSP00000605153.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 409,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935094.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.1041A>T",
"hgvs_p": "p.Glu347Asp",
"transcript": "ENST00000935095.1",
"protein_id": "ENSP00000605154.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 385,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935095.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.1026A>T",
"hgvs_p": "p.Glu342Asp",
"transcript": "ENST00000871343.1",
"protein_id": "ENSP00000541402.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 380,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871343.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.1005A>T",
"hgvs_p": "p.Glu335Asp",
"transcript": "ENST00000871338.1",
"protein_id": "ENSP00000541397.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 373,
"cds_start": 1005,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871338.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.990A>T",
"hgvs_p": "p.Glu330Asp",
"transcript": "ENST00000871345.1",
"protein_id": "ENSP00000541404.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 368,
"cds_start": 990,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871345.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.975A>T",
"hgvs_p": "p.Glu325Asp",
"transcript": "ENST00000871344.1",
"protein_id": "ENSP00000541403.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 363,
"cds_start": 975,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871344.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.972A>T",
"hgvs_p": "p.Glu324Asp",
"transcript": "ENST00000871339.1",
"protein_id": "ENSP00000541398.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 362,
"cds_start": 972,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871339.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.933A>T",
"hgvs_p": "p.Glu311Asp",
"transcript": "ENST00000935096.1",
"protein_id": "ENSP00000605155.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 349,
"cds_start": 933,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935096.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.924A>T",
"hgvs_p": "p.Glu308Asp",
"transcript": "ENST00000935097.1",
"protein_id": "ENSP00000605156.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 346,
"cds_start": 924,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935097.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "c.285A>T",
"hgvs_p": "p.Glu95Asp",
"transcript": "ENST00000871342.1",
"protein_id": "ENSP00000541401.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 133,
"cds_start": 285,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871342.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "n.448A>T",
"hgvs_p": null,
"transcript": "ENST00000474578.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000474578.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "n.215A>T",
"hgvs_p": null,
"transcript": "ENST00000486493.5",
"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": "retained_intron",
"feature": "ENST00000486493.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "n.355A>T",
"hgvs_p": null,
"transcript": "ENST00000587023.5",
"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": "retained_intron",
"feature": "ENST00000587023.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "n.*95A>T",
"hgvs_p": null,
"transcript": "ENST00000591096.5",
"protein_id": "ENSP00000467714.1",
"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": "ENST00000591096.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "n.273A>T",
"hgvs_p": null,
"transcript": "ENST00000592136.5",
"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": "retained_intron",
"feature": "ENST00000592136.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "n.467A>T",
"hgvs_p": null,
"transcript": "ENST00000593123.5",
"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": "retained_intron",
"feature": "ENST00000593123.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARSD1",
"gene_hgnc_id": 28417,
"hgvs_c": "n.*95A>T",
"hgvs_p": null,
"transcript": "ENST00000591096.5",
"protein_id": "ENSP00000467714.1",
"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": "ENST00000591096.5"
}
],
"gene_symbol": "PTGES3L-AARSD1",
"gene_hgnc_id": 43946,
"dbsnp": "rs1009260128",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06603536009788513,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.062,
"revel_prediction": "Benign",
"alphamissense_score": 0.1631,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.269,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001136042.2",
"gene_symbol": "PTGES3L-AARSD1",
"hgnc_id": 43946,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1644A>T",
"hgvs_p": "p.Glu548Asp"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001261434.2",
"gene_symbol": "AARSD1",
"hgnc_id": 28417,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1122A>T",
"hgvs_p": "p.Glu374Asp"
}
],
"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
}