← 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: 6-42228401-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=42228401&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 42228401,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000695948.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3583G>A",
"hgvs_p": "p.Asp1195Asn",
"transcript": "NM_001395490.1",
"protein_id": "NP_001382419.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3583,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4374,
"cdna_end": null,
"cdna_length": 7844,
"mane_select": "ENST00000695948.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3583G>A",
"hgvs_p": "p.Asp1195Asn",
"transcript": "ENST00000695948.1",
"protein_id": "ENSP00000512293.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3583,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4374,
"cdna_end": null,
"cdna_length": 7844,
"mane_select": "NM_001395490.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3607G>A",
"hgvs_p": "p.Asp1203Asn",
"transcript": "ENST00000541110.5",
"protein_id": "ENSP00000439689.1",
"transcript_support_level": 1,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3607,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4176,
"cdna_end": null,
"cdna_length": 7646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Asp1183Asn",
"transcript": "ENST00000372922.8",
"protein_id": "ENSP00000362013.4",
"transcript_support_level": 1,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3547,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4110,
"cdna_end": null,
"cdna_length": 7286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "n.*2781G>A",
"hgvs_p": null,
"transcript": "ENST00000372917.9",
"protein_id": "ENSP00000362008.6",
"transcript_support_level": 1,
"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": 3919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "n.*2781G>A",
"hgvs_p": null,
"transcript": "ENST00000372917.9",
"protein_id": "ENSP00000362008.6",
"transcript_support_level": 1,
"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": 3919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3607G>A",
"hgvs_p": "p.Asp1203Asn",
"transcript": "NM_001297573.2",
"protein_id": "NP_001284502.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3607,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4349,
"cdna_end": null,
"cdna_length": 7819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Asp1183Asn",
"transcript": "NM_001391983.1",
"protein_id": "NP_001378912.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3547,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4130,
"cdna_end": null,
"cdna_length": 7600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Asp1183Asn",
"transcript": "NM_033502.4",
"protein_id": "NP_277037.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3547,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4289,
"cdna_end": null,
"cdna_length": 7759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Asp1183Asn",
"transcript": "ENST00000695966.1",
"protein_id": "ENSP00000512292.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3547,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4130,
"cdna_end": null,
"cdna_length": 7600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3334G>A",
"hgvs_p": "p.Asp1112Asn",
"transcript": "NM_001391984.1",
"protein_id": "NP_001378913.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3953,
"cdna_end": null,
"cdna_length": 7423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3334G>A",
"hgvs_p": "p.Asp1112Asn",
"transcript": "ENST00000340840.6",
"protein_id": "ENSP00000339438.2",
"transcript_support_level": 5,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3922,
"cdna_end": null,
"cdna_length": 4174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3298G>A",
"hgvs_p": "p.Asp1100Asn",
"transcript": "ENST00000354325.2",
"protein_id": "ENSP00000346285.2",
"transcript_support_level": 5,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3298,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3886,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3643G>A",
"hgvs_p": "p.Asp1215Asn",
"transcript": "XM_017011046.2",
"protein_id": "XP_016866535.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4434,
"cdna_end": null,
"cdna_length": 7904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3643G>A",
"hgvs_p": "p.Asp1215Asn",
"transcript": "XM_047419026.1",
"protein_id": "XP_047274982.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4484,
"cdna_end": null,
"cdna_length": 7954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3643G>A",
"hgvs_p": "p.Asp1215Asn",
"transcript": "XM_047419027.1",
"protein_id": "XP_047274983.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4307,
"cdna_end": null,
"cdna_length": 7777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3643G>A",
"hgvs_p": "p.Asp1215Asn",
"transcript": "XM_047419028.1",
"protein_id": "XP_047274984.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4300,
"cdna_end": null,
"cdna_length": 7770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3643G>A",
"hgvs_p": "p.Asp1215Asn",
"transcript": "XM_047419029.1",
"protein_id": "XP_047274985.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4226,
"cdna_end": null,
"cdna_length": 7696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3643G>A",
"hgvs_p": "p.Asp1215Asn",
"transcript": "XM_047419030.1",
"protein_id": "XP_047274986.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4257,
"cdna_end": null,
"cdna_length": 7727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3643G>A",
"hgvs_p": "p.Asp1215Asn",
"transcript": "XM_047419031.1",
"protein_id": "XP_047274987.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3643,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4350,
"cdna_end": null,
"cdna_length": 7820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3607G>A",
"hgvs_p": "p.Asp1203Asn",
"transcript": "XM_017011048.2",
"protein_id": "XP_016866537.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3607,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4398,
"cdna_end": null,
"cdna_length": 7868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3607G>A",
"hgvs_p": "p.Asp1203Asn",
"transcript": "XM_047419032.1",
"protein_id": "XP_047274988.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3607,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4448,
"cdna_end": null,
"cdna_length": 7918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3607G>A",
"hgvs_p": "p.Asp1203Asn",
"transcript": "XM_047419033.1",
"protein_id": "XP_047274989.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3607,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4264,
"cdna_end": null,
"cdna_length": 7734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3607G>A",
"hgvs_p": "p.Asp1203Asn",
"transcript": "XM_047419034.1",
"protein_id": "XP_047274990.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3607,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4221,
"cdna_end": null,
"cdna_length": 7691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3607G>A",
"hgvs_p": "p.Asp1203Asn",
"transcript": "XM_047419035.1",
"protein_id": "XP_047274991.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3607,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4190,
"cdna_end": null,
"cdna_length": 7660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3607G>A",
"hgvs_p": "p.Asp1203Asn",
"transcript": "XM_047419036.1",
"protein_id": "XP_047274992.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3607,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4314,
"cdna_end": null,
"cdna_length": 7784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3607G>A",
"hgvs_p": "p.Asp1203Asn",
"transcript": "XM_047419037.1",
"protein_id": "XP_047274993.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3607,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4240,
"cdna_end": null,
"cdna_length": 7710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3607G>A",
"hgvs_p": "p.Asp1203Asn",
"transcript": "XM_047419038.1",
"protein_id": "XP_047274994.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3607,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4271,
"cdna_end": null,
"cdna_length": 7741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3583G>A",
"hgvs_p": "p.Asp1195Asn",
"transcript": "XM_047419039.1",
"protein_id": "XP_047274995.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3583,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4424,
"cdna_end": null,
"cdna_length": 7894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3583G>A",
"hgvs_p": "p.Asp1195Asn",
"transcript": "XM_047419040.1",
"protein_id": "XP_047274996.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3583,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4197,
"cdna_end": null,
"cdna_length": 7667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3583G>A",
"hgvs_p": "p.Asp1195Asn",
"transcript": "XM_047419041.1",
"protein_id": "XP_047274997.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3583,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4290,
"cdna_end": null,
"cdna_length": 7760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3583G>A",
"hgvs_p": "p.Asp1195Asn",
"transcript": "XM_047419043.1",
"protein_id": "XP_047274999.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3583,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4247,
"cdna_end": null,
"cdna_length": 7717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3583G>A",
"hgvs_p": "p.Asp1195Asn",
"transcript": "XM_047419044.1",
"protein_id": "XP_047275000.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3583,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4240,
"cdna_end": null,
"cdna_length": 7710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3583G>A",
"hgvs_p": "p.Asp1195Asn",
"transcript": "XM_047419045.1",
"protein_id": "XP_047275001.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3583,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4473,
"cdna_end": null,
"cdna_length": 7943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3583G>A",
"hgvs_p": "p.Asp1195Asn",
"transcript": "XM_047419046.1",
"protein_id": "XP_047275002.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3583,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4166,
"cdna_end": null,
"cdna_length": 7636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3583G>A",
"hgvs_p": "p.Asp1195Asn",
"transcript": "XM_047419047.1",
"protein_id": "XP_047275003.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3583,
"cds_end": null,
"cds_length": 3639,
"cdna_start": 4216,
"cdna_end": null,
"cdna_length": 7686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Asp1183Asn",
"transcript": "XM_017011049.2",
"protein_id": "XP_016866538.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3547,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4338,
"cdna_end": null,
"cdna_length": 7808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Asp1183Asn",
"transcript": "XM_047419048.1",
"protein_id": "XP_047275004.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3547,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4204,
"cdna_end": null,
"cdna_length": 7674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Asp1183Asn",
"transcript": "XM_047419049.1",
"protein_id": "XP_047275005.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3547,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4161,
"cdna_end": null,
"cdna_length": 7631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Asp1183Asn",
"transcript": "XM_047419050.1",
"protein_id": "XP_047275006.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3547,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4388,
"cdna_end": null,
"cdna_length": 7858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Asp1183Asn",
"transcript": "XM_047419051.1",
"protein_id": "XP_047275007.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3547,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4180,
"cdna_end": null,
"cdna_length": 7650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Asp1183Asn",
"transcript": "XM_047419053.1",
"protein_id": "XP_047275009.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3547,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4254,
"cdna_end": null,
"cdna_length": 7724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Asp1183Asn",
"transcript": "XM_047419054.1",
"protein_id": "XP_047275010.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3547,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4437,
"cdna_end": null,
"cdna_length": 7907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Asp1183Asn",
"transcript": "XM_047419055.1",
"protein_id": "XP_047275011.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3547,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4303,
"cdna_end": null,
"cdna_length": 7773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3547G>A",
"hgvs_p": "p.Asp1183Asn",
"transcript": "XM_047419056.1",
"protein_id": "XP_047275012.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3547,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 4211,
"cdna_end": null,
"cdna_length": 7681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3334G>A",
"hgvs_p": "p.Asp1112Asn",
"transcript": "XM_017011052.2",
"protein_id": "XP_016866541.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 4125,
"cdna_end": null,
"cdna_length": 7595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3334G>A",
"hgvs_p": "p.Asp1112Asn",
"transcript": "XM_047419057.1",
"protein_id": "XP_047275013.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 4175,
"cdna_end": null,
"cdna_length": 7645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3334G>A",
"hgvs_p": "p.Asp1112Asn",
"transcript": "XM_047419058.1",
"protein_id": "XP_047275014.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3948,
"cdna_end": null,
"cdna_length": 7418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3334G>A",
"hgvs_p": "p.Asp1112Asn",
"transcript": "XM_047419059.1",
"protein_id": "XP_047275015.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3998,
"cdna_end": null,
"cdna_length": 7468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3334G>A",
"hgvs_p": "p.Asp1112Asn",
"transcript": "XM_047419060.1",
"protein_id": "XP_047275016.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3917,
"cdna_end": null,
"cdna_length": 7387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3334G>A",
"hgvs_p": "p.Asp1112Asn",
"transcript": "XM_047419061.1",
"protein_id": "XP_047275017.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3991,
"cdna_end": null,
"cdna_length": 7461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3334G>A",
"hgvs_p": "p.Asp1112Asn",
"transcript": "XM_047419062.1",
"protein_id": "XP_047275018.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 4041,
"cdna_end": null,
"cdna_length": 7511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3298G>A",
"hgvs_p": "p.Asp1100Asn",
"transcript": "XM_017011054.2",
"protein_id": "XP_016866543.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3298,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 4089,
"cdna_end": null,
"cdna_length": 7559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3298G>A",
"hgvs_p": "p.Asp1100Asn",
"transcript": "XM_047419063.1",
"protein_id": "XP_047275019.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3298,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 4139,
"cdna_end": null,
"cdna_length": 7609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3298G>A",
"hgvs_p": "p.Asp1100Asn",
"transcript": "XM_047419064.1",
"protein_id": "XP_047275020.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3298,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3912,
"cdna_end": null,
"cdna_length": 7382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3298G>A",
"hgvs_p": "p.Asp1100Asn",
"transcript": "XM_047419065.1",
"protein_id": "XP_047275021.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3298,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3931,
"cdna_end": null,
"cdna_length": 7401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3298G>A",
"hgvs_p": "p.Asp1100Asn",
"transcript": "XM_047419066.1",
"protein_id": "XP_047275022.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3298,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 4005,
"cdna_end": null,
"cdna_length": 7475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3298G>A",
"hgvs_p": "p.Asp1100Asn",
"transcript": "XM_047419067.1",
"protein_id": "XP_047275023.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3298,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3955,
"cdna_end": null,
"cdna_length": 7425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3298G>A",
"hgvs_p": "p.Asp1100Asn",
"transcript": "XM_047419068.1",
"protein_id": "XP_047275024.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3298,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3881,
"cdna_end": null,
"cdna_length": 7351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3298G>A",
"hgvs_p": "p.Asp1100Asn",
"transcript": "XM_047419069.1",
"protein_id": "XP_047275025.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3298,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3962,
"cdna_end": null,
"cdna_length": 7432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "n.*2817G>A",
"hgvs_p": null,
"transcript": "ENST00000695947.1",
"protein_id": "ENSP00000512280.1",
"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": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "n.*2817G>A",
"hgvs_p": null,
"transcript": "ENST00000695947.1",
"protein_id": "ENSP00000512280.1",
"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": 3955,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105375061",
"gene_hgnc_id": null,
"hgvs_c": "n.121+3542C>T",
"hgvs_p": null,
"transcript": "XR_001744122.2",
"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": 626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"dbsnp": "rs147392486",
"frequency_reference_population": 0.00013382436,
"hom_count_reference_population": 0,
"allele_count_reference_population": 216,
"gnomad_exomes_af": 0.000140231,
"gnomad_genomes_af": 0.0000722838,
"gnomad_exomes_ac": 205,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14112234115600586,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.088,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.135,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000695948.1",
"gene_symbol": "TRERF1",
"hgnc_id": 18273,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3583G>A",
"hgvs_p": "p.Asp1195Asn"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "XR_001744122.2",
"gene_symbol": "LOC105375061",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.121+3542C>T",
"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
}