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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: 19-12948253-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12948253&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 12948253,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005053.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"transcript": "NM_005053.4",
"protein_id": "NP_005044.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 363,
"cds_start": 311,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000586534.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005053.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"transcript": "ENST00000586534.6",
"protein_id": "ENSP00000467024.1",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 363,
"cds_start": 311,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005053.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586534.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"transcript": "ENST00000316856.7",
"protein_id": "ENSP00000321365.3",
"transcript_support_level": 1,
"aa_start": 104,
"aa_end": null,
"aa_length": 362,
"cds_start": 311,
"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": "ENST00000316856.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"transcript": "NM_001270362.2",
"protein_id": "NP_001257291.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 362,
"cds_start": 311,
"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": "NM_001270362.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Pro102Leu",
"transcript": "ENST00000875551.1",
"protein_id": "ENSP00000545610.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 361,
"cds_start": 305,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875551.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"transcript": "ENST00000925763.1",
"protein_id": "ENSP00000595822.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 361,
"cds_start": 311,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925763.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Pro102Leu",
"transcript": "ENST00000875552.1",
"protein_id": "ENSP00000545611.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 360,
"cds_start": 305,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875552.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"transcript": "ENST00000875556.1",
"protein_id": "ENSP00000545615.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 356,
"cds_start": 311,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875556.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"transcript": "ENST00000943230.1",
"protein_id": "ENSP00000613289.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 355,
"cds_start": 311,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943230.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"transcript": "ENST00000875559.1",
"protein_id": "ENSP00000545618.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 352,
"cds_start": 311,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875559.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"transcript": "ENST00000925765.1",
"protein_id": "ENSP00000595824.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 349,
"cds_start": 311,
"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": "ENST00000925765.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"transcript": "ENST00000875557.1",
"protein_id": "ENSP00000545616.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 348,
"cds_start": 311,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875557.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"transcript": "ENST00000943231.1",
"protein_id": "ENSP00000613290.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 341,
"cds_start": 311,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943231.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"transcript": "ENST00000875550.1",
"protein_id": "ENSP00000545609.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 338,
"cds_start": 311,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875550.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"transcript": "ENST00000875558.1",
"protein_id": "ENSP00000545617.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 337,
"cds_start": 311,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875558.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"transcript": "NM_001270363.2",
"protein_id": "NP_001257292.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 308,
"cds_start": 311,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270363.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"transcript": "ENST00000592268.5",
"protein_id": "ENSP00000468674.1",
"transcript_support_level": 5,
"aa_start": 104,
"aa_end": null,
"aa_length": 308,
"cds_start": 311,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592268.5"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.235-18C>T",
"hgvs_p": null,
"transcript": "ENST00000875554.1",
"protein_id": "ENSP00000545613.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 326,
"cds_start": null,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875554.1"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.235-18C>T",
"hgvs_p": null,
"transcript": "ENST00000875553.1",
"protein_id": "ENSP00000545612.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": null,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875553.1"
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.235-18C>T",
"hgvs_p": null,
"transcript": "ENST00000925764.1",
"protein_id": "ENSP00000595823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": null,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925764.1"
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "c.235-18C>T",
"hgvs_p": null,
"transcript": "ENST00000875555.1",
"protein_id": "ENSP00000545614.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 312,
"cds_start": null,
"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": "ENST00000875555.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"hgvs_c": "n.394C>T",
"hgvs_p": null,
"transcript": "ENST00000588329.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000588329.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 8,
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"gene_symbol": "RAD23A",
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"transcript": "ENST00000588826.2",
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"biotype": "pseudogene",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 8,
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"gene_symbol": "RAD23A",
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"hgvs_c": "n.311C>T",
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"transcript": "ENST00000591499.5",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000591499.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 9,
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"gene_symbol": "RAD23A",
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"transcript": "ENST00000593114.5",
"protein_id": "ENSP00000466968.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000593114.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 10,
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"gene_symbol": "RAD23A",
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"hgvs_c": "n.311C>T",
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"transcript": "ENST00000651137.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651137.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 8,
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"gene_symbol": "RAD23A",
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"hgvs_c": "n.398C>T",
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"transcript": "NR_072976.2",
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"biotype": "pseudogene",
"feature": "NR_072976.2"
}
],
"gene_symbol": "RAD23A",
"gene_hgnc_id": 9812,
"dbsnp": "rs375981873",
"frequency_reference_population": 0.000071880124,
"hom_count_reference_population": 0,
"allele_count_reference_population": 116,
"gnomad_exomes_af": 0.0000690999,
"gnomad_genomes_af": 0.0000985895,
"gnomad_exomes_ac": 101,
"gnomad_genomes_ac": 15,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.029682159423828125,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.0723,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.495,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_005053.4",
"gene_symbol": "RAD23A",
"hgnc_id": 9812,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}