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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: 15-40698790-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40698790&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 40698790,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_133487.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "NM_002875.5",
"protein_id": "NP_002866.2",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 339,
"cds_start": 32,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000267868.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002875.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "ENST00000267868.8",
"protein_id": "ENSP00000267868.3",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 339,
"cds_start": 32,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002875.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267868.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "ENST00000532743.6",
"protein_id": "ENSP00000433924.2",
"transcript_support_level": 2,
"aa_start": 11,
"aa_end": null,
"aa_length": 339,
"cds_start": 32,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532743.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "ENST00000423169.6",
"protein_id": "ENSP00000406602.2",
"transcript_support_level": 1,
"aa_start": 11,
"aa_end": null,
"aa_length": 280,
"cds_start": 32,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423169.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "ENST00000557850.5",
"protein_id": "ENSP00000454176.1",
"transcript_support_level": 2,
"aa_start": 11,
"aa_end": null,
"aa_length": 242,
"cds_start": 32,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557850.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "NM_001164269.2",
"protein_id": "NP_001157741.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 340,
"cds_start": 32,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164269.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "NM_133487.4",
"protein_id": "NP_597994.3",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 340,
"cds_start": 32,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133487.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "ENST00000382643.7",
"protein_id": "ENSP00000372088.3",
"transcript_support_level": 2,
"aa_start": 11,
"aa_end": null,
"aa_length": 340,
"cds_start": 32,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382643.7"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "ENST00000645673.2",
"protein_id": "ENSP00000493712.2",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 340,
"cds_start": 32,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645673.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "ENST00000894385.1",
"protein_id": "ENSP00000564444.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 339,
"cds_start": 32,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894385.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "ENST00000912737.1",
"protein_id": "ENSP00000582796.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 339,
"cds_start": 32,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912737.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "ENST00000912738.1",
"protein_id": "ENSP00000582797.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 339,
"cds_start": 32,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912738.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "ENST00000912735.1",
"protein_id": "ENSP00000582794.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 338,
"cds_start": 32,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912735.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "ENST00000948778.1",
"protein_id": "ENSP00000618837.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 308,
"cds_start": 32,
"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": "ENST00000948778.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "NM_001164270.2",
"protein_id": "NP_001157742.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 280,
"cds_start": 32,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164270.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "ENST00000912736.1",
"protein_id": "ENSP00000582795.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 269,
"cds_start": 32,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912736.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "ENST00000894386.1",
"protein_id": "ENSP00000564445.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 255,
"cds_start": 32,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894386.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "ENST00000527860.5",
"protein_id": "ENSP00000432759.1",
"transcript_support_level": 4,
"aa_start": 11,
"aa_end": null,
"aa_length": 171,
"cds_start": 32,
"cds_end": null,
"cds_length": 517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527860.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "ENST00000526763.6",
"protein_id": "ENSP00000431897.1",
"transcript_support_level": 3,
"aa_start": 11,
"aa_end": null,
"aa_length": 74,
"cds_start": 32,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526763.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.122C>G",
"hgvs_p": "p.Ala41Gly",
"transcript": "XM_011521857.3",
"protein_id": "XP_011520159.2",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 369,
"cds_start": 122,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521857.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "XM_011521858.3",
"protein_id": "XP_011520160.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 339,
"cds_start": 32,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521858.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly",
"transcript": "XM_011521859.3",
"protein_id": "XP_011520161.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 339,
"cds_start": 32,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521859.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "RAD51",
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"hgvs_c": "c.32C>G",
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"transcript": "XM_011521860.3",
"protein_id": "XP_011520162.1",
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"aa_start": 11,
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"aa_length": 339,
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"cds_length": 1020,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521860.3"
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "RAD51",
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"hgvs_c": "c.122C>G",
"hgvs_p": "p.Ala41Gly",
"transcript": "XM_011521861.3",
"protein_id": "XP_011520163.2",
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"aa_start": 41,
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"aa_length": 310,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521861.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 9,
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"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "n.32C>G",
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"transcript": "ENST00000525066.5",
"protein_id": "ENSP00000431864.1",
"transcript_support_level": 5,
"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": "ENST00000525066.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "n.32C>G",
"hgvs_p": null,
"transcript": "ENST00000531277.2",
"protein_id": "ENSP00000436512.2",
"transcript_support_level": 3,
"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": "ENST00000531277.2"
}
],
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"dbsnp": "rs1286692919",
"frequency_reference_population": 6.8406564e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84066e-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": 0.15469646453857422,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.033,
"revel_prediction": "Benign",
"alphamissense_score": 0.0783,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.917,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_133487.4",
"gene_symbol": "RAD51",
"hgnc_id": 9817,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.32C>G",
"hgvs_p": "p.Ala11Gly"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}