← 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: 12-57256070-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57256070&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57256070,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001351204.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2552A>G",
"hgvs_p": "p.Gln851Arg",
"transcript": "NM_001394031.1",
"protein_id": "NP_001380960.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 990,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000402412.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394031.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2552A>G",
"hgvs_p": "p.Gln851Arg",
"transcript": "ENST00000402412.6",
"protein_id": "ENSP00000385839.1",
"transcript_support_level": 1,
"aa_start": 851,
"aa_end": null,
"aa_length": 990,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001394031.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402412.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2510A>G",
"hgvs_p": "p.Gln837Arg",
"transcript": "ENST00000347140.7",
"protein_id": "ENSP00000317903.6",
"transcript_support_level": 1,
"aa_start": 837,
"aa_end": null,
"aa_length": 976,
"cds_start": 2510,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347140.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "n.2346A>G",
"hgvs_p": null,
"transcript": "ENST00000393811.6",
"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": "retained_intron",
"feature": "ENST00000393811.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258830",
"gene_hgnc_id": null,
"hgvs_c": "n.*1602A>G",
"hgvs_p": null,
"transcript": "ENST00000548184.1",
"protein_id": "ENSP00000477227.1",
"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": "ENST00000548184.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258830",
"gene_hgnc_id": null,
"hgvs_c": "n.*1602A>G",
"hgvs_p": null,
"transcript": "ENST00000548184.1",
"protein_id": "ENSP00000477227.1",
"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": "ENST00000548184.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2708A>G",
"hgvs_p": "p.Gln903Arg",
"transcript": "NM_001351204.2",
"protein_id": "NP_001338133.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2708,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351204.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2708A>G",
"hgvs_p": "p.Gln903Arg",
"transcript": "NM_001351205.2",
"protein_id": "NP_001338134.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2708,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351205.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2708A>G",
"hgvs_p": "p.Gln903Arg",
"transcript": "NM_001351206.2",
"protein_id": "NP_001338135.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2708,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351206.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2678A>G",
"hgvs_p": "p.Gln893Arg",
"transcript": "NM_001351207.2",
"protein_id": "NP_001338136.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2678,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351207.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2654A>G",
"hgvs_p": "p.Gln885Arg",
"transcript": "NM_001351208.2",
"protein_id": "NP_001338137.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2654,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351208.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2612A>G",
"hgvs_p": "p.Gln871Arg",
"transcript": "NM_001330121.2",
"protein_id": "NP_001317050.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2612,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330121.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2612A>G",
"hgvs_p": "p.Gln871Arg",
"transcript": "NM_001330122.2",
"protein_id": "NP_001317051.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2612,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330122.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2612A>G",
"hgvs_p": "p.Gln871Arg",
"transcript": "ENST00000403821.6",
"protein_id": "ENSP00000385169.2",
"transcript_support_level": 5,
"aa_start": 871,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2612,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403821.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2606A>G",
"hgvs_p": "p.Gln869Arg",
"transcript": "NM_001351209.2",
"protein_id": "NP_001338138.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2606,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351209.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2606A>G",
"hgvs_p": "p.Gln869Arg",
"transcript": "ENST00000878714.1",
"protein_id": "ENSP00000548773.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2606,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878714.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2606A>G",
"hgvs_p": "p.Gln869Arg",
"transcript": "ENST00000878717.1",
"protein_id": "ENSP00000548776.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2606,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878717.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2576A>G",
"hgvs_p": "p.Gln859Arg",
"transcript": "NM_001351211.2",
"protein_id": "NP_001338140.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 998,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351211.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2576A>G",
"hgvs_p": "p.Gln859Arg",
"transcript": "ENST00000878710.1",
"protein_id": "ENSP00000548769.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 998,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878710.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2576A>G",
"hgvs_p": "p.Gln859Arg",
"transcript": "ENST00000878711.1",
"protein_id": "ENSP00000548770.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 998,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878711.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2576A>G",
"hgvs_p": "p.Gln859Arg",
"transcript": "ENST00000945076.1",
"protein_id": "ENSP00000615135.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 998,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945076.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2576A>G",
"hgvs_p": "p.Gln859Arg",
"transcript": "ENST00000945078.1",
"protein_id": "ENSP00000615137.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 998,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945078.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2558A>G",
"hgvs_p": "p.Gln853Arg",
"transcript": "NM_001351212.2",
"protein_id": "NP_001338141.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 992,
"cds_start": 2558,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351212.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2558A>G",
"hgvs_p": "p.Gln853Arg",
"transcript": "NM_001351213.2",
"protein_id": "NP_001338142.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 992,
"cds_start": 2558,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351213.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2558A>G",
"hgvs_p": "p.Gln853Arg",
"transcript": "NM_001351214.2",
"protein_id": "NP_001338143.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 992,
"cds_start": 2558,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351214.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2558A>G",
"hgvs_p": "p.Gln853Arg",
"transcript": "NM_001351215.2",
"protein_id": "NP_001338144.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 992,
"cds_start": 2558,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351215.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2552A>G",
"hgvs_p": "p.Gln851Arg",
"transcript": "ENST00000878709.1",
"protein_id": "ENSP00000548768.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 990,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878709.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2552A>G",
"hgvs_p": "p.Gln851Arg",
"transcript": "ENST00000938446.1",
"protein_id": "ENSP00000608505.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 990,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938446.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2552A>G",
"hgvs_p": "p.Gln851Arg",
"transcript": "ENST00000938447.1",
"protein_id": "ENSP00000608506.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 990,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938447.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2552A>G",
"hgvs_p": "p.Gln851Arg",
"transcript": "ENST00000938448.1",
"protein_id": "ENSP00000608507.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 990,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938448.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2552A>G",
"hgvs_p": "p.Gln851Arg",
"transcript": "ENST00000945075.1",
"protein_id": "ENSP00000615134.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 990,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945075.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2552A>G",
"hgvs_p": "p.Gln851Arg",
"transcript": "ENST00000945081.1",
"protein_id": "ENSP00000615139.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 990,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945081.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2552A>G",
"hgvs_p": "p.Gln851Arg",
"transcript": "ENST00000945084.1",
"protein_id": "ENSP00000615143.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 990,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945084.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2552A>G",
"hgvs_p": "p.Gln851Arg",
"transcript": "ENST00000945085.1",
"protein_id": "ENSP00000615144.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 990,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945085.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2546A>G",
"hgvs_p": "p.Gln849Arg",
"transcript": "NM_001351216.2",
"protein_id": "NP_001338145.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 988,
"cds_start": 2546,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351216.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2510A>G",
"hgvs_p": "p.Gln837Arg",
"transcript": "NM_014925.5",
"protein_id": "NP_055740.3",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 976,
"cds_start": 2510,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014925.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2510A>G",
"hgvs_p": "p.Gln837Arg",
"transcript": "ENST00000358907.6",
"protein_id": "ENSP00000351784.2",
"transcript_support_level": 5,
"aa_start": 837,
"aa_end": null,
"aa_length": 976,
"cds_start": 2510,
"cds_end": null,
"cds_length": 2931,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358907.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2492A>G",
"hgvs_p": "p.Gln831Arg",
"transcript": "ENST00000878712.1",
"protein_id": "ENSP00000548771.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 970,
"cds_start": 2492,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878712.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2480A>G",
"hgvs_p": "p.Gln827Arg",
"transcript": "NM_001330123.2",
"protein_id": "NP_001317052.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 966,
"cds_start": 2480,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330123.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2480A>G",
"hgvs_p": "p.Gln827Arg",
"transcript": "ENST00000634871.1",
"protein_id": "ENSP00000489424.1",
"transcript_support_level": 5,
"aa_start": 827,
"aa_end": null,
"aa_length": 966,
"cds_start": 2480,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634871.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2456A>G",
"hgvs_p": "p.Gln819Arg",
"transcript": "NM_001351217.2",
"protein_id": "NP_001338146.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 958,
"cds_start": 2456,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351217.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2456A>G",
"hgvs_p": "p.Gln819Arg",
"transcript": "NM_001351218.2",
"protein_id": "NP_001338147.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 958,
"cds_start": 2456,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351218.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2411A>G",
"hgvs_p": "p.Gln804Arg",
"transcript": "ENST00000878713.1",
"protein_id": "ENSP00000548772.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 943,
"cds_start": 2411,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878713.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2366A>G",
"hgvs_p": "p.Gln789Arg",
"transcript": "ENST00000945080.1",
"protein_id": "ENSP00000615138.1",
"transcript_support_level": null,
"aa_start": 789,
"aa_end": null,
"aa_length": 928,
"cds_start": 2366,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945080.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1805A>G",
"hgvs_p": "p.Gln602Arg",
"transcript": "ENST00000429355.6",
"protein_id": "ENSP00000394676.2",
"transcript_support_level": 5,
"aa_start": 602,
"aa_end": null,
"aa_length": 741,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429355.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1595A>G",
"hgvs_p": "p.Gln532Arg",
"transcript": "ENST00000441731.6",
"protein_id": "ENSP00000408536.2",
"transcript_support_level": 5,
"aa_start": 532,
"aa_end": null,
"aa_length": 671,
"cds_start": 1595,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441731.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2879A>G",
"hgvs_p": "p.Gln960Arg",
"transcript": "XM_047428506.1",
"protein_id": "XP_047284462.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1099,
"cds_start": 2879,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428506.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2828A>G",
"hgvs_p": "p.Gln943Arg",
"transcript": "XM_047428507.1",
"protein_id": "XP_047284463.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2828,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428507.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2777A>G",
"hgvs_p": "p.Gln926Arg",
"transcript": "XM_047428508.1",
"protein_id": "XP_047284464.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1065,
"cds_start": 2777,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428508.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2753A>G",
"hgvs_p": "p.Gln918Arg",
"transcript": "XM_047428509.1",
"protein_id": "XP_047284465.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2753,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428509.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2732A>G",
"hgvs_p": "p.Gln911Arg",
"transcript": "XM_047428510.1",
"protein_id": "XP_047284466.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2732,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428510.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2732A>G",
"hgvs_p": "p.Gln911Arg",
"transcript": "XM_047428511.1",
"protein_id": "XP_047284467.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2732,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428511.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2732A>G",
"hgvs_p": "p.Gln911Arg",
"transcript": "XM_047428512.1",
"protein_id": "XP_047284468.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2732,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428512.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2732A>G",
"hgvs_p": "p.Gln911Arg",
"transcript": "XM_047428513.1",
"protein_id": "XP_047284469.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2732,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428513.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2732A>G",
"hgvs_p": "p.Gln911Arg",
"transcript": "XM_047428514.1",
"protein_id": "XP_047284470.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2732,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428514.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2732A>G",
"hgvs_p": "p.Gln911Arg",
"transcript": "XM_047428515.1",
"protein_id": "XP_047284471.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 1050,
"cds_start": 2732,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428515.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2723A>G",
"hgvs_p": "p.Gln908Arg",
"transcript": "XM_047428516.1",
"protein_id": "XP_047284472.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 1047,
"cds_start": 2723,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428516.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2708A>G",
"hgvs_p": "p.Gln903Arg",
"transcript": "XM_047428517.1",
"protein_id": "XP_047284473.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2708,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428517.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2699A>G",
"hgvs_p": "p.Gln900Arg",
"transcript": "XM_047428518.1",
"protein_id": "XP_047284474.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1039,
"cds_start": 2699,
"cds_end": null,
"cds_length": 3120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428518.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2693A>G",
"hgvs_p": "p.Gln898Arg",
"transcript": "XM_024448885.2",
"protein_id": "XP_024304653.2",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2693,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448885.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2681A>G",
"hgvs_p": "p.Gln894Arg",
"transcript": "XM_017019009.2",
"protein_id": "XP_016874498.2",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2681,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019009.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2678A>G",
"hgvs_p": "p.Gln893Arg",
"transcript": "XM_047428519.1",
"protein_id": "XP_047284475.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2678,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428519.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2663A>G",
"hgvs_p": "p.Gln888Arg",
"transcript": "XM_017019012.2",
"protein_id": "XP_016874501.2",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 1027,
"cds_start": 2663,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019012.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2657A>G",
"hgvs_p": "p.Gln886Arg",
"transcript": "XM_047428520.1",
"protein_id": "XP_047284476.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2657,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428520.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2654A>G",
"hgvs_p": "p.Gln885Arg",
"transcript": "XM_047428521.1",
"protein_id": "XP_047284477.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2654,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428521.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2639A>G",
"hgvs_p": "p.Gln880Arg",
"transcript": "XM_047428522.1",
"protein_id": "XP_047284478.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2639,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428522.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2630A>G",
"hgvs_p": "p.Gln877Arg",
"transcript": "XM_047428523.1",
"protein_id": "XP_047284479.1",
"transcript_support_level": null,
"aa_start": 877,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2630,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428523.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2627A>G",
"hgvs_p": "p.Gln876Arg",
"transcript": "XM_047428524.1",
"protein_id": "XP_047284480.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2627,
"cds_end": null,
"cds_length": 3048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428524.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2606A>G",
"hgvs_p": "p.Gln869Arg",
"transcript": "XM_047428525.1",
"protein_id": "XP_047284481.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2606,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428525.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2603A>G",
"hgvs_p": "p.Gln868Arg",
"transcript": "XM_047428526.1",
"protein_id": "XP_047284482.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2603,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428526.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2576A>G",
"hgvs_p": "p.Gln859Arg",
"transcript": "XM_047428527.1",
"protein_id": "XP_047284483.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 998,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428527.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2567A>G",
"hgvs_p": "p.Gln856Arg",
"transcript": "XM_017019020.2",
"protein_id": "XP_016874509.2",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 995,
"cds_start": 2567,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019020.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2552A>G",
"hgvs_p": "p.Gln851Arg",
"transcript": "XM_047428528.1",
"protein_id": "XP_047284484.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 990,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428528.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2552A>G",
"hgvs_p": "p.Gln851Arg",
"transcript": "XM_047428529.1",
"protein_id": "XP_047284485.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 990,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428529.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2549A>G",
"hgvs_p": "p.Gln850Arg",
"transcript": "XM_047428530.1",
"protein_id": "XP_047284486.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 989,
"cds_start": 2549,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428530.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2492A>G",
"hgvs_p": "p.Gln831Arg",
"transcript": "XM_047428532.1",
"protein_id": "XP_047284488.1",
"transcript_support_level": null,
"aa_start": 831,
"aa_end": null,
"aa_length": 970,
"cds_start": 2492,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428532.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2456A>G",
"hgvs_p": "p.Gln819Arg",
"transcript": "XM_047428533.1",
"protein_id": "XP_047284489.1",
"transcript_support_level": null,
"aa_start": 819,
"aa_end": null,
"aa_length": 958,
"cds_start": 2456,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428533.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2396A>G",
"hgvs_p": "p.Gln799Arg",
"transcript": "XM_047428534.1",
"protein_id": "XP_047284490.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 938,
"cds_start": 2396,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428534.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1793A>G",
"hgvs_p": "p.Gln598Arg",
"transcript": "XM_047428535.1",
"protein_id": "XP_047284491.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 737,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428535.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.1493A>G",
"hgvs_p": "p.Gln498Arg",
"transcript": "XM_047428536.1",
"protein_id": "XP_047284492.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 637,
"cds_start": 1493,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428536.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2650-2A>G",
"hgvs_p": null,
"transcript": "ENST00000945082.1",
"protein_id": "ENSP00000615141.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1022,
"cds_start": null,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945082.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2608-2A>G",
"hgvs_p": null,
"transcript": "ENST00000878715.1",
"protein_id": "ENSP00000548774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1008,
"cds_start": null,
"cds_end": null,
"cds_length": 3027,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878715.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2572-2A>G",
"hgvs_p": null,
"transcript": "ENST00000945077.1",
"protein_id": "ENSP00000615136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 996,
"cds_start": null,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945077.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2548-2A>G",
"hgvs_p": null,
"transcript": "ENST00000878716.1",
"protein_id": "ENSP00000548775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 988,
"cds_start": null,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878716.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2548-2A>G",
"hgvs_p": null,
"transcript": "ENST00000938444.1",
"protein_id": "ENSP00000608503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 988,
"cds_start": null,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938444.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "c.2548-2A>G",
"hgvs_p": null,
"transcript": "ENST00000938445.1",
"protein_id": "ENSP00000608504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 988,
"cds_start": null,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938445.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"hgvs_c": "n.746A>G",
"hgvs_p": null,
"transcript": "ENST00000548161.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000548161.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295078",
"gene_hgnc_id": null,
"hgvs_c": "n.808+15855T>C",
"hgvs_p": null,
"transcript": "ENST00000727836.1",
"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": "ENST00000727836.1"
}
],
"gene_symbol": "R3HDM2",
"gene_hgnc_id": 29167,
"dbsnp": "rs2038898607",
"frequency_reference_population": 0.0000012394108,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84241e-7,
"gnomad_genomes_af": 0.00000657047,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2882359027862549,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.095,
"revel_prediction": "Benign",
"alphamissense_score": 0.3509,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.116,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.1,
"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_001351204.2",
"gene_symbol": "R3HDM2",
"hgnc_id": 29167,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2708A>G",
"hgvs_p": "p.Gln903Arg"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000548184.1",
"gene_symbol": "ENSG00000258830",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1602A>G",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000727836.1",
"gene_symbol": "ENSG00000295078",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.808+15855T>C",
"hgvs_p": null
}
],
"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
}