← 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: 10-98202516-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=98202516&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 98202516,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000298999.8",
"consequences": [
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "NM_001351015.2",
"protein_id": "NP_001337944.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": "ENST00000298999.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "ENST00000298999.8",
"protein_id": "ENSP00000298999.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": "NM_001351015.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "NM_001256619.2",
"protein_id": "NP_001243548.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "ENST00000612478.4",
"protein_id": "ENSP00000483494.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "NM_001256620.2",
"protein_id": "NP_001243549.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "NM_001351010.2",
"protein_id": "NP_001337939.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "NM_001351011.2",
"protein_id": "NP_001337940.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "NM_001351012.2",
"protein_id": "NP_001337941.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "NM_001351013.2",
"protein_id": "NP_001337942.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "NM_001351014.2",
"protein_id": "NP_001337943.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "NM_001351016.2",
"protein_id": "NP_001337945.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "NM_001351017.2",
"protein_id": "NP_001337946.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "NM_014472.5",
"protein_id": "NP_055287.5",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "NM_138469.3",
"protein_id": "NP_612478.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "ENST00000314594.6",
"protein_id": "ENSP00000314018.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "ENST00000370584.7",
"protein_id": "ENSP00000359616.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.4-28996G>A",
"hgvs_p": null,
"transcript": "NM_001256621.2",
"protein_id": "NP_001243550.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": -4,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.4-28996G>A",
"hgvs_p": null,
"transcript": "ENST00000370586.6",
"protein_id": "ENSP00000359618.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": -4,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.4-28996G>A",
"hgvs_p": null,
"transcript": "ENST00000613938.4",
"protein_id": "ENSP00000479916.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": -4,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_011539640.2",
"protein_id": "XP_011537942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_011539641.2",
"protein_id": "XP_011537943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_011539642.2",
"protein_id": "XP_011537944.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_011539643.2",
"protein_id": "XP_011537945.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_011539644.3",
"protein_id": "XP_011537946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_011539645.3",
"protein_id": "XP_011537947.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_011539646.2",
"protein_id": "XP_011537948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_011539648.2",
"protein_id": "XP_011537950.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_024447941.2",
"protein_id": "XP_024303709.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-153-3002G>A",
"hgvs_p": null,
"transcript": "XM_047425061.1",
"protein_id": "XP_047281017.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425062.1",
"protein_id": "XP_047281018.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425063.1",
"protein_id": "XP_047281019.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425064.1",
"protein_id": "XP_047281020.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425065.1",
"protein_id": "XP_047281021.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-153-3002G>A",
"hgvs_p": null,
"transcript": "XM_047425066.1",
"protein_id": "XP_047281022.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425067.1",
"protein_id": "XP_047281023.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_017016081.2",
"protein_id": "XP_016871570.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425068.1",
"protein_id": "XP_047281024.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425069.1",
"protein_id": "XP_047281025.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425070.1",
"protein_id": "XP_047281026.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425071.1",
"protein_id": "XP_047281027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425072.1",
"protein_id": "XP_047281028.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425073.1",
"protein_id": "XP_047281029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425074.1",
"protein_id": "XP_047281030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425075.1",
"protein_id": "XP_047281031.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425076.1",
"protein_id": "XP_047281032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-153-3002G>A",
"hgvs_p": null,
"transcript": "XM_047425077.1",
"protein_id": "XP_047281033.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425078.1",
"protein_id": "XP_047281034.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425079.1",
"protein_id": "XP_047281035.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": -4,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425080.1",
"protein_id": "XP_047281036.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425081.1",
"protein_id": "XP_047281037.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425082.1",
"protein_id": "XP_047281038.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425083.1",
"protein_id": "XP_047281039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425084.1",
"protein_id": "XP_047281040.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": -4,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null,
"transcript": "XM_047425085.1",
"protein_id": "XP_047281041.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"cds_start": -4,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"hgvs_c": "n.401-5585G>A",
"hgvs_p": null,
"transcript": "XR_007061959.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "R3HCC1L",
"gene_hgnc_id": 23512,
"dbsnp": "rs11189510",
"frequency_reference_population": 0.12518425,
"hom_count_reference_population": 1235,
"allele_count_reference_population": 19023,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.125184,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 19023,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1235,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.182,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000298999.8",
"gene_symbol": "R3HCC1L",
"hgnc_id": 23512,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-14-5585G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}