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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 11-61783884-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61783884&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 61783884,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001127392.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.3153T>C",
"hgvs_p": "p.Ser1051Ser",
"transcript": "NM_001127392.3",
"protein_id": "NP_001120864.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3153,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000278836.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127392.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.3153T>C",
"hgvs_p": "p.Ser1051Ser",
"transcript": "ENST00000278836.10",
"protein_id": "ENSP00000278836.4",
"transcript_support_level": 1,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3153,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001127392.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278836.10"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.3033T>C",
"hgvs_p": "p.Ser1011Ser",
"transcript": "ENST00000265460.9",
"protein_id": "ENSP00000265460.5",
"transcript_support_level": 1,
"aa_start": 1011,
"aa_end": null,
"aa_length": 1111,
"cds_start": 3033,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265460.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "n.1698T>C",
"hgvs_p": null,
"transcript": "ENST00000539361.1",
"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": "ENST00000539361.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.3156T>C",
"hgvs_p": "p.Ser1052Ser",
"transcript": "ENST00000856811.1",
"protein_id": "ENSP00000526870.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3156,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856811.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.3141T>C",
"hgvs_p": "p.Ser1047Ser",
"transcript": "ENST00000856806.1",
"protein_id": "ENSP00000526865.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1147,
"cds_start": 3141,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856806.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.3138T>C",
"hgvs_p": "p.Ser1046Ser",
"transcript": "ENST00000856800.1",
"protein_id": "ENSP00000526859.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1146,
"cds_start": 3138,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856800.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.3075T>C",
"hgvs_p": "p.Ser1025Ser",
"transcript": "ENST00000856799.1",
"protein_id": "ENSP00000526858.1",
"transcript_support_level": null,
"aa_start": 1025,
"aa_end": null,
"aa_length": 1125,
"cds_start": 3075,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856799.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.3072T>C",
"hgvs_p": "p.Ser1024Ser",
"transcript": "ENST00000856812.1",
"protein_id": "ENSP00000526871.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1124,
"cds_start": 3072,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856812.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.3060T>C",
"hgvs_p": "p.Ser1020Ser",
"transcript": "ENST00000856803.1",
"protein_id": "ENSP00000526862.1",
"transcript_support_level": null,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3060,
"cds_end": null,
"cds_length": 3363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856803.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.3057T>C",
"hgvs_p": "p.Ser1019Ser",
"transcript": "ENST00000856801.1",
"protein_id": "ENSP00000526860.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3057,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856801.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.3036T>C",
"hgvs_p": "p.Ser1012Ser",
"transcript": "ENST00000856808.1",
"protein_id": "ENSP00000526867.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1112,
"cds_start": 3036,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856808.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.3033T>C",
"hgvs_p": "p.Ser1011Ser",
"transcript": "NM_013279.4",
"protein_id": "NP_037411.1",
"transcript_support_level": null,
"aa_start": 1011,
"aa_end": null,
"aa_length": 1111,
"cds_start": 3033,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013279.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.3060T>C",
"hgvs_p": "p.Ser1020Ser",
"transcript": "ENST00000856810.1",
"protein_id": "ENSP00000526869.1",
"transcript_support_level": null,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1109,
"cds_start": 3060,
"cds_end": null,
"cds_length": 3330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856810.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.3057T>C",
"hgvs_p": "p.Ser1019Ser",
"transcript": "ENST00000918479.1",
"protein_id": "ENSP00000588538.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1108,
"cds_start": 3057,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918479.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.2988T>C",
"hgvs_p": "p.Ser996Ser",
"transcript": "ENST00000856804.1",
"protein_id": "ENSP00000526863.1",
"transcript_support_level": null,
"aa_start": 996,
"aa_end": null,
"aa_length": 1096,
"cds_start": 2988,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856804.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.2985T>C",
"hgvs_p": "p.Ser995Ser",
"transcript": "ENST00000856798.1",
"protein_id": "ENSP00000526857.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1095,
"cds_start": 2985,
"cds_end": null,
"cds_length": 3288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856798.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.2907T>C",
"hgvs_p": "p.Ser969Ser",
"transcript": "ENST00000856802.1",
"protein_id": "ENSP00000526861.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1069,
"cds_start": 2907,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856802.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.2904T>C",
"hgvs_p": "p.Ser968Ser",
"transcript": "ENST00000856809.1",
"protein_id": "ENSP00000526868.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2904,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856809.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.2904T>C",
"hgvs_p": "p.Ser968Ser",
"transcript": "ENST00000918478.1",
"protein_id": "ENSP00000588537.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2904,
"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": "ENST00000918478.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.2796T>C",
"hgvs_p": "p.Ser932Ser",
"transcript": "ENST00000856805.1",
"protein_id": "ENSP00000526864.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2796,
"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": "ENST00000856805.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYRF",
"gene_hgnc_id": 1181,
"hgvs_c": "c.2796T>C",
"hgvs_p": "p.Ser932Ser",
"transcript": "ENST00000856813.1",
"protein_id": "ENSP00000526872.1",
"transcript_support_level": null,
"aa_start": 932,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2796,
"cds_end": null,
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{
"aa_ref": "S",
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"protein_coding": true,
"strand": true,
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"synonymous_variant"
],
"exon_rank": 21,
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"exon_count": 24,
"intron_rank": null,
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"hgvs_p": "p.Ser851Ser",
"transcript": "XM_011545234.3",
"protein_id": "XP_011543536.1",
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"aa_start": 851,
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"feature": "XM_011545234.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
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"gene_symbol": "MYRF",
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"transcript": "ENST00000389602.4",
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000389602.4"
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{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
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"gene_symbol": "MYRF",
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"transcript": "ENST00000675345.1",
"protein_id": "ENSP00000502028.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675345.1"
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{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "MYRF",
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"transcript": "ENST00000675792.1",
"protein_id": "ENSP00000501879.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675792.1"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "TMEM258",
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"transcript": "ENST00000535042.1",
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"biotype": "pseudogene",
"feature": "ENST00000535042.1"
}
],
"gene_symbol": "MYRF",
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"dbsnp": "rs174535",
"frequency_reference_population": 0.3461757,
"hom_count_reference_population": 102867,
"allele_count_reference_population": 556510,
"gnomad_exomes_af": 0.348414,
"gnomad_genomes_af": 0.324736,
"gnomad_exomes_ac": 507169,
"gnomad_genomes_ac": 49341,
"gnomad_exomes_homalt": 93760,
"gnomad_genomes_homalt": 9107,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.406,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001127392.3",
"gene_symbol": "MYRF",
"hgnc_id": 1181,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.3153T>C",
"hgvs_p": "p.Ser1051Ser"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000535042.1",
"gene_symbol": "TMEM258",
"hgnc_id": 1164,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.249-4801A>G",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}