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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: 5-83111054-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=83111054&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 83111054,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_022406.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "NM_003401.5",
"protein_id": "NP_003392.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 334,
"cds_start": 166,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396027.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003401.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "ENST00000396027.9",
"protein_id": "ENSP00000379344.4",
"transcript_support_level": 5,
"aa_start": 56,
"aa_end": null,
"aa_length": 334,
"cds_start": 166,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003401.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396027.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "ENST00000511817.1",
"protein_id": "ENSP00000421491.1",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 336,
"cds_start": 166,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511817.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "ENST00000282268.7",
"protein_id": "ENSP00000282268.3",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 334,
"cds_start": 166,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282268.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "n.235G>A",
"hgvs_p": null,
"transcript": "ENST00000542685.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000542685.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "NM_001318012.3",
"protein_id": "NP_001304941.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 336,
"cds_start": 166,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318012.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "NM_022406.5",
"protein_id": "NP_071801.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 336,
"cds_start": 166,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022406.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "ENST00000338635.10",
"protein_id": "ENSP00000342011.6",
"transcript_support_level": 2,
"aa_start": 56,
"aa_end": null,
"aa_length": 336,
"cds_start": 166,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338635.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "ENST00000957027.1",
"protein_id": "ENSP00000627086.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 336,
"cds_start": 166,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957027.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "ENST00000957028.1",
"protein_id": "ENSP00000627087.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 336,
"cds_start": 166,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957028.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "ENST00000957029.1",
"protein_id": "ENSP00000627088.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 336,
"cds_start": 166,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957029.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "NM_022550.4",
"protein_id": "NP_072044.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 334,
"cds_start": 166,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022550.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "ENST00000888905.1",
"protein_id": "ENSP00000558964.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 334,
"cds_start": 166,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888905.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "ENST00000933725.1",
"protein_id": "ENSP00000603784.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 334,
"cds_start": 166,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933725.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "ENST00000933726.1",
"protein_id": "ENSP00000603785.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 334,
"cds_start": 166,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933726.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "ENST00000933727.1",
"protein_id": "ENSP00000603786.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 334,
"cds_start": 166,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933727.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "NM_001318013.2",
"protein_id": "NP_001304942.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 310,
"cds_start": 166,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318013.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "XM_011543626.2",
"protein_id": "XP_011541928.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 336,
"cds_start": 166,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543626.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "XM_047417694.1",
"protein_id": "XP_047273650.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 334,
"cds_start": 166,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417694.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "XM_017009827.3",
"protein_id": "XP_016865316.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 312,
"cds_start": 166,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009827.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "XM_047417695.1",
"protein_id": "XP_047273651.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 312,
"cds_start": 166,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417695.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "XM_047417696.1",
"protein_id": "XP_047273652.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 310,
"cds_start": 166,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417696.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "XM_017009828.3",
"protein_id": "XP_016865317.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 308,
"cds_start": 166,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009828.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "XM_047417697.1",
"protein_id": "XP_047273653.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 308,
"cds_start": 166,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417697.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr",
"transcript": "XM_047417698.1",
"protein_id": "XP_047273654.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 261,
"cds_start": 166,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417698.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"hgvs_c": "n.178G>A",
"hgvs_p": null,
"transcript": "ENST00000509268.1",
"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,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000509268.1"
}
],
"gene_symbol": "XRCC4",
"gene_hgnc_id": 12831,
"dbsnp": "rs28383151",
"frequency_reference_population": 0.0007859445,
"hom_count_reference_population": 3,
"allele_count_reference_population": 1264,
"gnomad_exomes_af": 0.000812452,
"gnomad_genomes_af": 0.000532299,
"gnomad_exomes_ac": 1183,
"gnomad_genomes_ac": 81,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4604833722114563,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.343,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6471,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.486,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_022406.5",
"gene_symbol": "XRCC4",
"hgnc_id": 12831,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Ala56Thr"
}
],
"clinvar_disease": " and endocrine dysfunction, microcephaly,Short stature,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|Short stature, microcephaly, and endocrine dysfunction",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}