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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: X-2828989-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=2828989&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 2828989,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_003918.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-129+14T>C",
"hgvs_p": null,
"transcript": "NM_001079855.2",
"protein_id": "NP_001073324.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": null,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": "ENST00000398806.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079855.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-129+14T>C",
"hgvs_p": null,
"transcript": "ENST00000398806.8",
"protein_id": "ENSP00000381786.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": null,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": "NM_001079855.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398806.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-129+14T>C",
"hgvs_p": null,
"transcript": "ENST00000381163.7",
"protein_id": "ENSP00000370555.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": null,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381163.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-226T>C",
"hgvs_p": null,
"transcript": "ENST00000922781.1",
"protein_id": "ENSP00000592840.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5389,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922781.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-226T>C",
"hgvs_p": null,
"transcript": "ENST00000922791.1",
"protein_id": "ENSP00000592850.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": null,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922791.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-217T>C",
"hgvs_p": null,
"transcript": "ENST00000922796.1",
"protein_id": "ENSP00000592855.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": null,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922796.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-226T>C",
"hgvs_p": null,
"transcript": "ENST00000922790.1",
"protein_id": "ENSP00000592849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 435,
"cds_start": null,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922790.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-226T>C",
"hgvs_p": null,
"transcript": "ENST00000922783.1",
"protein_id": "ENSP00000592842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922783.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-226T>C",
"hgvs_p": null,
"transcript": "XM_017029928.2",
"protein_id": "XP_016885417.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": null,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029928.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-226T>C",
"hgvs_p": null,
"transcript": "XM_047442608.1",
"protein_id": "XP_047298564.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": null,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442608.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-226T>C",
"hgvs_p": null,
"transcript": "XM_047442609.1",
"protein_id": "XP_047298565.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": null,
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"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442609.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-226T>C",
"hgvs_p": null,
"transcript": "XM_047442610.1",
"protein_id": "XP_047298566.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 469,
"cds_start": null,
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"cds_length": 1410,
"cdna_start": null,
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"cdna_length": 3300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442610.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-226T>C",
"hgvs_p": null,
"transcript": "XM_047442613.1",
"protein_id": "XP_047298569.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 399,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442613.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-129+14T>C",
"hgvs_p": null,
"transcript": "NM_003918.3",
"protein_id": "NP_003909.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_003918.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-129+14T>C",
"hgvs_p": null,
"transcript": "ENST00000868644.1",
"protein_id": "ENSP00000538703.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 500,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868644.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-129+14T>C",
"hgvs_p": null,
"transcript": "ENST00000868640.1",
"protein_id": "ENSP00000538699.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868640.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-129+306T>C",
"hgvs_p": null,
"transcript": "ENST00000922784.1",
"protein_id": "ENSP00000592843.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922784.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-129+14T>C",
"hgvs_p": null,
"transcript": "ENST00000958336.1",
"protein_id": "ENSP00000628395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": "ENST00000958336.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-129+14T>C",
"hgvs_p": null,
"transcript": "NM_001184702.2",
"protein_id": "NP_001171631.1",
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"feature": "NM_001184702.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-129+14T>C",
"hgvs_p": null,
"transcript": "ENST00000868639.1",
"protein_id": "ENSP00000538698.1",
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"feature": "ENST00000868639.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-129+306T>C",
"hgvs_p": null,
"transcript": "ENST00000958337.1",
"protein_id": "ENSP00000628396.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": 3269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958337.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"hgvs_c": "c.-129+14T>C",
"hgvs_p": null,
"transcript": "ENST00000922786.1",
"protein_id": "ENSP00000592845.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 467,
"cds_start": null,
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"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922786.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"biotype": "protein_coding",
"feature": "ENST00000922792.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "GYG2",
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"hgvs_c": "c.-408T>C",
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"transcript": "ENST00000922793.1",
"protein_id": "ENSP00000592852.1",
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"aa_start": null,
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"aa_length": 399,
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"cds_length": 1200,
"cdna_start": null,
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"cdna_length": 3044,
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"biotype": "protein_coding",
"feature": "ENST00000922793.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 9,
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"gene_symbol": "GYG2",
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"hgvs_c": "c.-408T>C",
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"transcript": "ENST00000922795.1",
"protein_id": "ENSP00000592854.1",
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"aa_end": null,
"aa_length": 365,
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"cds_end": null,
"cds_length": 1098,
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"cdna_length": 2880,
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"biotype": "protein_coding",
"feature": "ENST00000922795.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "ENSG00000305418",
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"hgvs_c": "n.-149A>G",
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"transcript": "ENST00000810823.1",
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"cdna_length": 440,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000810823.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "ENSG00000305418",
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"hgvs_c": "n.-165A>G",
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"transcript": "ENST00000810827.1",
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"cdna_length": 661,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000810827.1"
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],
"gene_symbol": "GYG2",
"gene_hgnc_id": 4700,
"dbsnp": "rs1485170223",
"frequency_reference_population": 0.000050306873,
"hom_count_reference_population": 2,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0.0000503069,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"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": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.629,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003918.3",
"gene_symbol": "GYG2",
"hgnc_id": 4700,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-129+14T>C",
"hgvs_p": null
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000810823.1",
"gene_symbol": "ENSG00000305418",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-149A>G",
"hgvs_p": null
}
],
"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
}