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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: 12-916345-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=916345&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 916345,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_134424.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.864G>C",
"hgvs_p": "p.Glu288Asp",
"transcript": "NM_134424.4",
"protein_id": "NP_602296.2",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 864,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358495.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_134424.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.864G>C",
"hgvs_p": "p.Glu288Asp",
"transcript": "ENST00000358495.8",
"protein_id": "ENSP00000351284.3",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 864,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_134424.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358495.8"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.864G>C",
"hgvs_p": "p.Glu288Asp",
"transcript": "ENST00000430095.6",
"protein_id": "ENSP00000387901.2",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 864,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430095.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "n.*702G>C",
"hgvs_p": null,
"transcript": "ENST00000461568.5",
"protein_id": "ENSP00000436008.1",
"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": "ENST00000461568.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "n.*528G>C",
"hgvs_p": null,
"transcript": "ENST00000543912.5",
"protein_id": "ENSP00000439583.1",
"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": "ENST00000543912.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "n.*702G>C",
"hgvs_p": null,
"transcript": "ENST00000461568.5",
"protein_id": "ENSP00000436008.1",
"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": "ENST00000461568.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "n.*528G>C",
"hgvs_p": null,
"transcript": "ENST00000543912.5",
"protein_id": "ENSP00000439583.1",
"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": "ENST00000543912.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.864G>C",
"hgvs_p": "p.Glu288Asp",
"transcript": "NM_001297419.1",
"protein_id": "NP_001284348.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 864,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297419.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.864G>C",
"hgvs_p": "p.Glu288Asp",
"transcript": "ENST00000904778.1",
"protein_id": "ENSP00000574837.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 864,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904778.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.864G>C",
"hgvs_p": "p.Glu288Asp",
"transcript": "ENST00000904780.1",
"protein_id": "ENSP00000574839.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 864,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904780.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.864G>C",
"hgvs_p": "p.Glu288Asp",
"transcript": "ENST00000952666.1",
"protein_id": "ENSP00000622725.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 417,
"cds_start": 864,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952666.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.864G>C",
"hgvs_p": "p.Glu288Asp",
"transcript": "ENST00000904781.1",
"protein_id": "ENSP00000574840.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 384,
"cds_start": 864,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904781.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.864G>C",
"hgvs_p": "p.Glu288Asp",
"transcript": "ENST00000928981.1",
"protein_id": "ENSP00000599040.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 384,
"cds_start": 864,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928981.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.864G>C",
"hgvs_p": "p.Glu288Asp",
"transcript": "ENST00000928982.1",
"protein_id": "ENSP00000599041.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 384,
"cds_start": 864,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928982.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.762G>C",
"hgvs_p": "p.Glu254Asp",
"transcript": "ENST00000952664.1",
"protein_id": "ENSP00000622723.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 384,
"cds_start": 762,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952664.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.864G>C",
"hgvs_p": "p.Glu288Asp",
"transcript": "ENST00000952665.1",
"protein_id": "ENSP00000622724.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 384,
"cds_start": 864,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952665.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.633G>C",
"hgvs_p": "p.Glu211Asp",
"transcript": "NM_001297421.2",
"protein_id": "NP_001284350.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 341,
"cds_start": 633,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297421.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.864G>C",
"hgvs_p": "p.Glu288Asp",
"transcript": "XM_005253720.6",
"protein_id": "XP_005253777.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 864,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253720.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.864G>C",
"hgvs_p": "p.Glu288Asp",
"transcript": "XM_005253721.3",
"protein_id": "XP_005253778.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 864,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253721.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.864G>C",
"hgvs_p": "p.Glu288Asp",
"transcript": "XM_011520990.3",
"protein_id": "XP_011519292.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 864,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520990.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
"gene_hgnc_id": 9824,
"hgvs_c": "c.864G>C",
"hgvs_p": "p.Glu288Asp",
"transcript": "XM_011520991.3",
"protein_id": "XP_011519293.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 418,
"cds_start": 864,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520991.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD52",
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"feature": "ENST00000228345.9"
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"non_coding_transcript_exon_variant"
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{
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"protein_coding": false,
"strand": false,
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"non_coding_transcript_exon_variant"
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"feature": "ENST00000468231.5"
},
{
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"canonical": false,
"protein_coding": false,
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"non_coding_transcript_exon_variant"
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "RAD52",
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"feature": "ENST00000488642.6"
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"non_coding_transcript_exon_variant"
],
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"exon_count": 4,
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"gene_symbol": "RAD52",
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"biotype": "pseudogene",
"feature": "ENST00000535376.5"
},
{
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"strand": false,
"consequences": [
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "RAD52",
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"transcript": "NR_123713.2",
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"biotype": "pseudogene",
"feature": "NR_123713.2"
},
{
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"canonical": false,
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "RAD52",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000468231.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 10,
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"gene_symbol": "RAD52",
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"hgvs_c": "n.*386G>C",
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"transcript": "ENST00000545564.6",
"protein_id": "ENSP00000440268.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000545564.6"
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],
"gene_symbol": "RAD52",
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"dbsnp": "rs748463909",
"frequency_reference_population": 6.881081e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.88108e-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": 0.04624035954475403,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.04800000041723251,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.0868,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.038,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000200919263062022,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_134424.4",
"gene_symbol": "RAD52",
"hgnc_id": 9824,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.864G>C",
"hgvs_p": "p.Glu288Asp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}