← Back to variant description
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: 22-41650817-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41650817&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41650817,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001469.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "NM_001469.5",
"protein_id": "NP_001460.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 609,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000360079.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001469.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000360079.8",
"protein_id": "ENSP00000353192.3",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 609,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001469.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360079.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000359308.8",
"protein_id": "ENSP00000352257.4",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 609,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359308.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000938034.1",
"protein_id": "ENSP00000608093.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 634,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938034.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1091C>T",
"hgvs_p": "p.Pro364Leu",
"transcript": "ENST00000892848.1",
"protein_id": "ENSP00000562907.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 621,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892848.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000970533.1",
"protein_id": "ENSP00000640592.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 620,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970533.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "NM_001288976.2",
"protein_id": "NP_001275905.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 609,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288976.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000405878.5",
"protein_id": "ENSP00000384257.1",
"transcript_support_level": 5,
"aa_start": 352,
"aa_end": null,
"aa_length": 609,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405878.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000892843.1",
"protein_id": "ENSP00000562902.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 609,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892843.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000892849.1",
"protein_id": "ENSP00000562908.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 609,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892849.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000892850.1",
"protein_id": "ENSP00000562909.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 609,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892850.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000892852.1",
"protein_id": "ENSP00000562911.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 609,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892852.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000892853.1",
"protein_id": "ENSP00000562912.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 609,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892853.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000938028.1",
"protein_id": "ENSP00000608087.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 609,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938028.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000938030.1",
"protein_id": "ENSP00000608089.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 609,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938030.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000938031.1",
"protein_id": "ENSP00000608090.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 609,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938031.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000938039.1",
"protein_id": "ENSP00000608098.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 609,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938039.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000892844.1",
"protein_id": "ENSP00000562903.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 608,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892844.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1052C>T",
"hgvs_p": "p.Pro351Leu",
"transcript": "ENST00000938029.1",
"protein_id": "ENSP00000608088.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 608,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938029.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000938040.1",
"protein_id": "ENSP00000608099.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 608,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938040.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1052C>T",
"hgvs_p": "p.Pro351Leu",
"transcript": "ENST00000970532.1",
"protein_id": "ENSP00000640591.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 608,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970532.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000938032.1",
"protein_id": "ENSP00000608091.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 606,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938032.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000938035.1",
"protein_id": "ENSP00000608094.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 606,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938035.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1037C>T",
"hgvs_p": "p.Pro346Leu",
"transcript": "ENST00000938037.1",
"protein_id": "ENSP00000608096.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 603,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938037.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000892842.1",
"protein_id": "ENSP00000562901.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 571,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892842.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000938038.1",
"protein_id": "ENSP00000608097.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 571,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938038.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000970535.1",
"protein_id": "ENSP00000640594.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 571,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970535.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.932C>T",
"hgvs_p": "p.Pro311Leu",
"transcript": "NM_001288977.2",
"protein_id": "NP_001275906.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 568,
"cds_start": 932,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288977.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.932C>T",
"hgvs_p": "p.Pro311Leu",
"transcript": "ENST00000402580.7",
"protein_id": "ENSP00000384941.3",
"transcript_support_level": 2,
"aa_start": 311,
"aa_end": null,
"aa_length": 568,
"cds_start": 932,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402580.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Pro302Leu",
"transcript": "NM_001288978.2",
"protein_id": "NP_001275907.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 559,
"cds_start": 905,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288978.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Pro302Leu",
"transcript": "ENST00000405506.2",
"protein_id": "ENSP00000384082.1",
"transcript_support_level": 5,
"aa_start": 302,
"aa_end": null,
"aa_length": 559,
"cds_start": 905,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405506.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Pro302Leu",
"transcript": "ENST00000428575.6",
"protein_id": "ENSP00000403679.3",
"transcript_support_level": 2,
"aa_start": 302,
"aa_end": null,
"aa_length": 559,
"cds_start": 905,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428575.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000892847.1",
"protein_id": "ENSP00000562906.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 555,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892847.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000970534.1",
"protein_id": "ENSP00000640593.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 555,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970534.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000892845.1",
"protein_id": "ENSP00000562904.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 544,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892845.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000892846.1",
"protein_id": "ENSP00000562905.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 532,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892846.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000892851.1",
"protein_id": "ENSP00000562910.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 532,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892851.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.905C>T",
"hgvs_p": "p.Pro302Leu",
"transcript": "XM_047441304.1",
"protein_id": "XP_047297260.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 559,
"cds_start": 905,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441304.1"
},
{
"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": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.1030+25C>T",
"hgvs_p": null,
"transcript": "ENST00000938033.1",
"protein_id": "ENSP00000608092.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 576,
"cds_start": null,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938033.1"
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.83-2712C>T",
"hgvs_p": null,
"transcript": "ENST00000938041.1",
"protein_id": "ENSP00000608100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 260,
"cds_start": null,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938041.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"hgvs_c": "c.139-10522C>T",
"hgvs_p": null,
"transcript": "ENST00000938036.1",
"protein_id": "ENSP00000608095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 145,
"cds_start": null,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938036.1"
}
],
"gene_symbol": "XRCC6",
"gene_hgnc_id": 4055,
"dbsnp": "rs771094973",
"frequency_reference_population": 6.841237e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84124e-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": 0.9753633737564087,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.729,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6656,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.306,
"phylop100way_prediction": "Uncertain_significance",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001469.5",
"gene_symbol": "XRCC6",
"hgnc_id": 4055,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}