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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: 1-29194082-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=29194082&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 29194082,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001349715.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.1062G>A",
"hgvs_p": "p.Gln354Gln",
"transcript": "NM_016011.5",
"protein_id": "NP_057095.4",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 373,
"cds_start": 1062,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263702.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016011.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.1062G>A",
"hgvs_p": "p.Gln354Gln",
"transcript": "ENST00000263702.11",
"protein_id": "ENSP00000263702.6",
"transcript_support_level": 1,
"aa_start": 354,
"aa_end": null,
"aa_length": 373,
"cds_start": 1062,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016011.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263702.11"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Gln389Gln",
"transcript": "NM_001349715.2",
"protein_id": "NP_001336644.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 408,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349715.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.1146G>A",
"hgvs_p": "p.Gln382Gln",
"transcript": "NM_001349716.2",
"protein_id": "NP_001336645.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 401,
"cds_start": 1146,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349716.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.1137G>A",
"hgvs_p": "p.Gln379Gln",
"transcript": "ENST00000883815.1",
"protein_id": "ENSP00000553874.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 398,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883815.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.1104G>A",
"hgvs_p": "p.Gln368Gln",
"transcript": "ENST00000944953.1",
"protein_id": "ENSP00000615012.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 387,
"cds_start": 1104,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944953.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.1086G>A",
"hgvs_p": "p.Gln362Gln",
"transcript": "ENST00000883816.1",
"protein_id": "ENSP00000553875.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 381,
"cds_start": 1086,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883816.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.912G>A",
"hgvs_p": "p.Gln304Gln",
"transcript": "NM_001349717.2",
"protein_id": "NP_001336646.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 323,
"cds_start": 912,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349717.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.834G>A",
"hgvs_p": "p.Gln278Gln",
"transcript": "NM_001024732.4",
"protein_id": "NP_001019903.3",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 297,
"cds_start": 834,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024732.4"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.834G>A",
"hgvs_p": "p.Gln278Gln",
"transcript": "NM_001349711.2",
"protein_id": "NP_001336640.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 297,
"cds_start": 834,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349711.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.834G>A",
"hgvs_p": "p.Gln278Gln",
"transcript": "NM_001349712.2",
"protein_id": "NP_001336641.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 297,
"cds_start": 834,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349712.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.834G>A",
"hgvs_p": "p.Gln278Gln",
"transcript": "NM_001349713.2",
"protein_id": "NP_001336642.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 297,
"cds_start": 834,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349713.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.834G>A",
"hgvs_p": "p.Gln278Gln",
"transcript": "NM_001349714.2",
"protein_id": "NP_001336643.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 297,
"cds_start": 834,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349714.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.834G>A",
"hgvs_p": "p.Gln278Gln",
"transcript": "ENST00000373791.7",
"protein_id": "ENSP00000362896.3",
"transcript_support_level": 2,
"aa_start": 278,
"aa_end": null,
"aa_length": 297,
"cds_start": 834,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373791.7"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.1320G>A",
"hgvs_p": "p.Gln440Gln",
"transcript": "XM_011541539.2",
"protein_id": "XP_011539841.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 459,
"cds_start": 1320,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541539.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.1236G>A",
"hgvs_p": "p.Gln412Gln",
"transcript": "XM_011541540.3",
"protein_id": "XP_011539842.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 431,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541540.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.1008G>A",
"hgvs_p": "p.Gln336Gln",
"transcript": "XM_011541546.2",
"protein_id": "XP_011539848.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 355,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541546.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.834G>A",
"hgvs_p": "p.Gln278Gln",
"transcript": "XM_047422051.1",
"protein_id": "XP_047278007.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 297,
"cds_start": 834,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422051.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.*80G>A",
"hgvs_p": null,
"transcript": "XM_011541541.2",
"protein_id": "XP_011539843.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 364,
"cds_start": null,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541541.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "c.*80G>A",
"hgvs_p": null,
"transcript": "XM_047422042.1",
"protein_id": "XP_047277998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": null,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422042.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "n.*226G>A",
"hgvs_p": null,
"transcript": "ENST00000463412.1",
"protein_id": "ENSP00000436831.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000463412.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "n.711G>A",
"hgvs_p": null,
"transcript": "ENST00000473030.5",
"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": "ENST00000473030.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "MECR",
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{
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"consequences": [
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"gene_symbol": "MECR",
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"biotype": "pseudogene",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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"exon_count": 10,
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"gene_symbol": "MECR",
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"hgvs_c": "n.1323G>A",
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"transcript": "NR_146212.2",
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"biotype": "pseudogene",
"feature": "NR_146212.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 11,
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"gene_symbol": "MECR",
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"feature": "NR_146213.2"
},
{
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"biotype": "pseudogene",
"feature": "NR_146214.2"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "MECR",
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"biotype": "pseudogene",
"feature": "NR_146215.2"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 14,
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"gene_symbol": "MECR",
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"hgvs_c": "n.1174G>A",
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"transcript": "XR_007060747.1",
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"biotype": "pseudogene",
"feature": "XR_007060747.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 13,
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"gene_symbol": "MECR",
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"transcript": "XR_007060748.1",
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"feature": "XR_007060748.1"
},
{
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"non_coding_transcript_exon_variant"
],
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"exon_count": 12,
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"gene_symbol": "MECR",
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"transcript": "XR_946663.3",
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"biotype": "pseudogene",
"feature": "XR_946663.3"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 7,
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"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"hgvs_c": "n.*226G>A",
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"transcript": "ENST00000463412.1",
"protein_id": "ENSP00000436831.1",
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000463412.1"
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],
"gene_symbol": "MECR",
"gene_hgnc_id": 19691,
"dbsnp": "rs1436109252",
"frequency_reference_population": 0.000004956568,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000478857,
"gnomad_genomes_af": 0.00000657004,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6200000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.135,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001349715.2",
"gene_symbol": "MECR",
"hgnc_id": 19691,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1167G>A",
"hgvs_p": "p.Gln389Gln"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}