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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: 14-103707128-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=103707128&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 103707128,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005432.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "NM_005432.4",
"protein_id": "NP_005423.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000555055.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005432.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "ENST00000555055.6",
"protein_id": "ENSP00000452598.1",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005432.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555055.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "ENST00000352127.11",
"protein_id": "ENSP00000343392.7",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352127.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC1",
"gene_hgnc_id": 6387,
"hgvs_c": "c.*5929C>T",
"hgvs_p": null,
"transcript": "ENST00000348520.10",
"protein_id": "ENSP00000341154.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": null,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348520.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "NM_001100118.2",
"protein_id": "NP_001093588.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100118.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "NM_001100119.2",
"protein_id": "NP_001093589.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100119.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "NM_001371229.1",
"protein_id": "NP_001358158.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371229.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "NM_001371231.1",
"protein_id": "NP_001358160.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371231.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "NM_001371232.1",
"protein_id": "NP_001358161.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371232.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "ENST00000553264.5",
"protein_id": "ENSP00000451974.1",
"transcript_support_level": 2,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553264.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "ENST00000554913.5",
"protein_id": "ENSP00000451362.1",
"transcript_support_level": 2,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554913.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "ENST00000881941.1",
"protein_id": "ENSP00000552000.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881941.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "ENST00000881942.1",
"protein_id": "ENSP00000552001.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881942.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "ENST00000881943.1",
"protein_id": "ENSP00000552002.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881943.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "ENST00000881944.1",
"protein_id": "ENSP00000552003.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881944.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "ENST00000881945.1",
"protein_id": "ENSP00000552004.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881945.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "ENST00000881946.1",
"protein_id": "ENSP00000552005.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881946.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "ENST00000881947.1",
"protein_id": "ENSP00000552006.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881947.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "ENST00000881948.1",
"protein_id": "ENSP00000552007.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881948.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "ENST00000881949.1",
"protein_id": "ENSP00000552008.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881949.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "ENST00000881950.1",
"protein_id": "ENSP00000552009.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881950.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "ENST00000881951.1",
"protein_id": "ENSP00000552010.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 346,
"cds_start": 281,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881951.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
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"gene_symbol": "XRCC3",
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"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His",
"transcript": "XM_047431768.1",
"protein_id": "XP_047287724.1",
"transcript_support_level": null,
"aa_start": 94,
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"aa_length": 346,
"cds_start": 281,
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"cds_length": 1041,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431768.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "XRCC3",
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"hgvs_c": "c.-54-7552G>A",
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"transcript": "ENST00000554974.5",
"protein_id": "ENSP00000451361.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
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"cds_end": null,
"cds_length": 426,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554974.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "n.393G>A",
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"transcript": "ENST00000553807.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000553807.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "n.1728G>A",
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"transcript": "ENST00000554811.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000554811.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"hgvs_c": "n.281G>A",
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"transcript": "ENST00000557439.5",
"protein_id": "ENSP00000473569.1",
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000557439.5"
}
],
"gene_symbol": "XRCC3",
"gene_hgnc_id": 12830,
"dbsnp": "rs3212057",
"frequency_reference_population": 0.0011304874,
"hom_count_reference_population": 16,
"allele_count_reference_population": 1752,
"gnomad_exomes_af": 0.000590379,
"gnomad_genomes_af": 0.00608403,
"gnomad_exomes_ac": 825,
"gnomad_genomes_ac": 927,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 9,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009322434663772583,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.078,
"revel_prediction": "Benign",
"alphamissense_score": 0.0854,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.211,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_005432.4",
"gene_symbol": "XRCC3",
"hgnc_id": 12830,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94His"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000348520.10",
"gene_symbol": "KLC1",
"hgnc_id": 6387,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.*5929C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}