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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: 12-21501710-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=21501710&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 21501710,
"ref": "C",
"alt": "A",
"effect": "upstream_gene_variant",
"transcript": "ENST00000229314.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.-586G>T",
"hgvs_p": null,
"transcript": "NM_002907.4",
"protein_id": "NP_002898.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": -4,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": "ENST00000444129.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.-586G>T",
"hgvs_p": null,
"transcript": "ENST00000444129.7",
"protein_id": "ENSP00000416739.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": -4,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": "NM_002907.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLT1B",
"gene_hgnc_id": 20175,
"hgvs_c": "c.-214C>A",
"hgvs_p": null,
"transcript": "NM_016072.5",
"protein_id": "NP_057156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": -4,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": "ENST00000229314.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLT1B",
"gene_hgnc_id": 20175,
"hgvs_c": "c.-214C>A",
"hgvs_p": null,
"transcript": "ENST00000229314.10",
"protein_id": "ENSP00000229314.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": -4,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3253,
"mane_select": "NM_016072.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.-389G>T",
"hgvs_p": null,
"transcript": "ENST00000421138.6",
"protein_id": "ENSP00000395449.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": -4,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLT1B",
"gene_hgnc_id": 20175,
"hgvs_c": "c.-314C>A",
"hgvs_p": null,
"transcript": "ENST00000542038.5",
"protein_id": "ENSP00000446231.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 74,
"cds_start": -4,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLT1B",
"gene_hgnc_id": 20175,
"hgvs_c": "n.-71C>A",
"hgvs_p": null,
"transcript": "ENST00000535593.5",
"protein_id": null,
"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": 813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLT1B",
"gene_hgnc_id": 20175,
"hgvs_c": "n.-214C>A",
"hgvs_p": null,
"transcript": "ENST00000539025.5",
"protein_id": "ENSP00000446405.1",
"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": 1210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.-389G>T",
"hgvs_p": null,
"transcript": "NM_032941.3",
"protein_id": "NP_116559.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": -4,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.-339G>T",
"hgvs_p": null,
"transcript": "ENST00000396093.7",
"protein_id": "ENSP00000379400.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": -4,
"cds_end": null,
"cds_length": 634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.-496G>T",
"hgvs_p": null,
"transcript": "ENST00000314748.10",
"protein_id": "ENSP00000318727.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 198,
"cds_start": -4,
"cds_end": null,
"cds_length": 599,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.-321G>T",
"hgvs_p": null,
"transcript": "ENST00000542432.5",
"protein_id": "ENSP00000445555.1",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": 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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLT1B",
"gene_hgnc_id": 20175,
"hgvs_c": "c.-214C>A",
"hgvs_p": null,
"transcript": "ENST00000540141.5",
"protein_id": "ENSP00000437351.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.-293G>T",
"hgvs_p": null,
"transcript": "ENST00000536240.5",
"protein_id": "ENSP00000439069.1",
"transcript_support_level": 4,
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"cds_start": -4,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "RECQL",
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"hgvs_c": "c.-343G>T",
"hgvs_p": null,
"transcript": "ENST00000536964.5",
"protein_id": "ENSP00000446036.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.-478G>T",
"hgvs_p": null,
"transcript": "ENST00000539672.1",
"protein_id": "ENSP00000440700.1",
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"aa_start": null,
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},
{
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "GOLT1B",
"gene_hgnc_id": 20175,
"hgvs_c": "c.-214C>A",
"hgvs_p": null,
"transcript": "ENST00000631252.2",
"protein_id": "ENSP00000486919.1",
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"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLT1B",
"gene_hgnc_id": 20175,
"hgvs_c": "n.-214C>A",
"hgvs_p": null,
"transcript": "ENST00000539663.5",
"protein_id": "ENSP00000440666.1",
"transcript_support_level": 3,
"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLT1B",
"gene_hgnc_id": 20175,
"hgvs_c": "n.-214C>A",
"hgvs_p": null,
"transcript": "ENST00000542194.1",
"protein_id": "ENSP00000441878.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "GOLT1B",
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"hgvs_c": "n.-107C>A",
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"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GOLT1B",
"gene_hgnc_id": 20175,
"hgvs_c": "n.-105C>A",
"hgvs_p": null,
"transcript": "ENST00000545113.1",
"protein_id": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.-496G>T",
"hgvs_p": null,
"transcript": "XM_005253461.4",
"protein_id": "XP_005253518.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL",
"gene_hgnc_id": 9948,
"hgvs_c": "c.-339G>T",
"hgvs_p": null,
"transcript": "XM_005253462.6",
"protein_id": "XP_005253519.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 649,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
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"exon_count": 15,
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"gene_symbol": "RECQL",
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"hgvs_c": "c.-343G>T",
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"transcript": "XM_005253463.5",
"protein_id": "XP_005253520.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": -4,
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"cds_length": 1950,
"cdna_start": null,
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"cdna_length": 3502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"protein_coding": true,
"strand": true,
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"upstream_gene_variant"
],
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"gene_symbol": "RECQL",
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"hgvs_c": "c.-293G>T",
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"transcript": "XM_005253464.5",
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"feature": null
},
{
"aa_ref": null,
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"protein_coding": true,
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"upstream_gene_variant"
],
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"exon_count": 16,
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"gene_symbol": "RECQL",
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"hgvs_c": "c.-478G>T",
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"transcript": "XM_047429299.1",
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"exon_count": 16,
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"gene_symbol": "RECQL",
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"hgvs_c": "c.-321G>T",
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"transcript": "XM_047429300.1",
"protein_id": "XP_047285256.1",
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"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3480,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "GOLT1B",
"gene_hgnc_id": 20175,
"dbsnp": "rs1860947",
"frequency_reference_population": 0.86932296,
"hom_count_reference_population": 227628,
"allele_count_reference_population": 521865,
"gnomad_exomes_af": 0.876672,
"gnomad_genomes_af": 0.84769,
"gnomad_exomes_ac": 392828,
"gnomad_genomes_ac": 129037,
"gnomad_exomes_homalt": 172722,
"gnomad_genomes_homalt": 54906,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7099999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.403,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000229314.10",
"gene_symbol": "GOLT1B",
"hgnc_id": 20175,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-214C>A",
"hgvs_p": null
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000444129.7",
"gene_symbol": "RECQL",
"hgnc_id": 9948,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.-586G>T",
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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
}