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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: 1-175986967-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=175986967&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 175986967,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_022457.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.2109G>A",
"hgvs_p": "p.Val703Val",
"transcript": "NM_022457.7",
"protein_id": "NP_071902.2",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 731,
"cds_start": 2109,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367669.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022457.7"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.2109G>A",
"hgvs_p": "p.Val703Val",
"transcript": "ENST00000367669.8",
"protein_id": "ENSP00000356641.3",
"transcript_support_level": 1,
"aa_start": 703,
"aa_end": null,
"aa_length": 731,
"cds_start": 2109,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022457.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367669.8"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.2037G>A",
"hgvs_p": "p.Val679Val",
"transcript": "ENST00000308769.12",
"protein_id": "ENSP00000310943.8",
"transcript_support_level": 1,
"aa_start": 679,
"aa_end": null,
"aa_length": 707,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308769.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "n.*1285G>A",
"hgvs_p": null,
"transcript": "ENST00000367667.5",
"protein_id": "ENSP00000356639.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000367667.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "n.*1285G>A",
"hgvs_p": null,
"transcript": "ENST00000367667.5",
"protein_id": "ENSP00000356639.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000367667.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.2268G>A",
"hgvs_p": "p.Val756Val",
"transcript": "ENST00000935470.1",
"protein_id": "ENSP00000605529.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 784,
"cds_start": 2268,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935470.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.2226G>A",
"hgvs_p": "p.Val742Val",
"transcript": "ENST00000896361.1",
"protein_id": "ENSP00000566420.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 770,
"cds_start": 2226,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896361.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.2214G>A",
"hgvs_p": "p.Val738Val",
"transcript": "ENST00000896366.1",
"protein_id": "ENSP00000566425.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 766,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896366.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.2166G>A",
"hgvs_p": "p.Val722Val",
"transcript": "ENST00000896371.1",
"protein_id": "ENSP00000566430.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 750,
"cds_start": 2166,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896371.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.2157G>A",
"hgvs_p": "p.Val719Val",
"transcript": "ENST00000896378.1",
"protein_id": "ENSP00000566437.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 747,
"cds_start": 2157,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896378.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.2154G>A",
"hgvs_p": "p.Val718Val",
"transcript": "ENST00000896368.1",
"protein_id": "ENSP00000566427.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 746,
"cds_start": 2154,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896368.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.2106G>A",
"hgvs_p": "p.Val702Val",
"transcript": "ENST00000935466.1",
"protein_id": "ENSP00000605525.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 730,
"cds_start": 2106,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935466.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.2109G>A",
"hgvs_p": "p.Val703Val",
"transcript": "ENST00000935468.1",
"protein_id": "ENSP00000605527.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 730,
"cds_start": 2109,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935468.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.2100G>A",
"hgvs_p": "p.Val700Val",
"transcript": "ENST00000942110.1",
"protein_id": "ENSP00000612169.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 728,
"cds_start": 2100,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942110.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.2097G>A",
"hgvs_p": "p.Val699Val",
"transcript": "ENST00000896357.1",
"protein_id": "ENSP00000566416.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 727,
"cds_start": 2097,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896357.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.2097G>A",
"hgvs_p": "p.Val699Val",
"transcript": "ENST00000896374.1",
"protein_id": "ENSP00000566433.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 727,
"cds_start": 2097,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896374.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.2094G>A",
"hgvs_p": "p.Val698Val",
"transcript": "ENST00000896373.1",
"protein_id": "ENSP00000566432.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 726,
"cds_start": 2094,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896373.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.2109G>A",
"hgvs_p": "p.Val703Val",
"transcript": "ENST00000935471.1",
"protein_id": "ENSP00000605530.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 716,
"cds_start": 2109,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935471.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.2049G>A",
"hgvs_p": "p.Val683Val",
"transcript": "ENST00000896367.1",
"protein_id": "ENSP00000566426.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 711,
"cds_start": 2049,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896367.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.2040G>A",
"hgvs_p": "p.Val680Val",
"transcript": "ENST00000896363.1",
"protein_id": "ENSP00000566422.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 708,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896363.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.2037G>A",
"hgvs_p": "p.Val679Val",
"transcript": "NM_001001740.4",
"protein_id": "NP_001001740.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 707,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001740.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.2037G>A",
"hgvs_p": "p.Val679Val",
"transcript": "ENST00000896360.1",
"protein_id": "ENSP00000566419.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 707,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"biotype": "protein_coding",
"feature": "XM_017002074.2"
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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"exon_rank": 15,
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},
{
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"protein_coding": true,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017002077.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
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"exon_count": 13,
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"gene_symbol": "COP1",
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"hgvs_c": "c.1203G>A",
"hgvs_p": "p.Val401Val",
"transcript": "XM_017002080.3",
"protein_id": "XP_016857569.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017002080.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
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"exon_count": 13,
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"gene_symbol": "COP1",
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"hgvs_c": "c.1203G>A",
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"transcript": "XM_047427799.1",
"protein_id": "XP_047283755.1",
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"feature": "XM_047427799.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 9,
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"gene_symbol": "COP1",
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"biotype": "retained_intron",
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},
{
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],
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"gene_symbol": "COP1",
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"hgvs_c": "n.*1786G>A",
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"transcript": "ENST00000649803.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649803.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 21,
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"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "n.*1786G>A",
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"transcript": "ENST00000649803.1",
"protein_id": "ENSP00000497397.1",
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"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": "ENST00000649803.1"
}
],
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"dbsnp": "rs1571414351",
"frequency_reference_population": 6.87479e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.87479e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3199999928474426,
"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": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.412,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_022457.7",
"gene_symbol": "COP1",
"hgnc_id": 17440,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2109G>A",
"hgvs_p": "p.Val703Val"
}
],
"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
}