← 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: 15-40729632-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40729632&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 40729632,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_133487.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "NM_002875.5",
"protein_id": "NP_002866.2",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 339,
"cds_start": 772,
"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": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "ENST00000267868.8",
"protein_id": "ENSP00000267868.3",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 339,
"cds_start": 772,
"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": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "ENST00000532743.6",
"protein_id": "ENSP00000433924.2",
"transcript_support_level": 2,
"aa_start": 258,
"aa_end": null,
"aa_length": 339,
"cds_start": 772,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "ENST00000423169.6",
"protein_id": "ENSP00000406602.2",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 280,
"cds_start": 772,
"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": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.481G>A",
"hgvs_p": "p.Glu161Lys",
"transcript": "ENST00000557850.5",
"protein_id": "ENSP00000454176.1",
"transcript_support_level": 2,
"aa_start": 161,
"aa_end": null,
"aa_length": 242,
"cds_start": 481,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Glu259Lys",
"transcript": "NM_001164269.2",
"protein_id": "NP_001157741.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 340,
"cds_start": 775,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Glu259Lys",
"transcript": "NM_133487.4",
"protein_id": "NP_597994.3",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 340,
"cds_start": 775,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Glu259Lys",
"transcript": "ENST00000382643.7",
"protein_id": "ENSP00000372088.3",
"transcript_support_level": 2,
"aa_start": 259,
"aa_end": null,
"aa_length": 340,
"cds_start": 775,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Glu259Lys",
"transcript": "ENST00000645673.2",
"protein_id": "ENSP00000493712.2",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 340,
"cds_start": 775,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "ENST00000894385.1",
"protein_id": "ENSP00000564444.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 339,
"cds_start": 772,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "ENST00000912737.1",
"protein_id": "ENSP00000582796.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 339,
"cds_start": 772,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "ENST00000912738.1",
"protein_id": "ENSP00000582797.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 339,
"cds_start": 772,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.769G>A",
"hgvs_p": "p.Glu257Lys",
"transcript": "ENST00000912735.1",
"protein_id": "ENSP00000582794.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 338,
"cds_start": 769,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Glu227Lys",
"transcript": "ENST00000948778.1",
"protein_id": "ENSP00000618837.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 308,
"cds_start": 679,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "NM_001164270.2",
"protein_id": "NP_001157742.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 280,
"cds_start": 772,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Glu188Lys",
"transcript": "ENST00000912736.1",
"protein_id": "ENSP00000582795.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 269,
"cds_start": 562,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Glu288Lys",
"transcript": "XM_011521857.3",
"protein_id": "XP_011520159.2",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 369,
"cds_start": 862,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "XM_011521858.3",
"protein_id": "XP_011520160.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 339,
"cds_start": 772,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "XM_011521859.3",
"protein_id": "XP_011520161.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 339,
"cds_start": 772,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "XM_011521860.3",
"protein_id": "XP_011520162.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 339,
"cds_start": 772,
"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_011521860.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Glu288Lys",
"transcript": "XM_011521861.3",
"protein_id": "XP_011520163.2",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 310,
"cds_start": 862,
"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_011521861.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Glu134Lys",
"transcript": "XM_047432925.1",
"protein_id": "XP_047288881.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 215,
"cds_start": 400,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432925.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "c.644+808G>A",
"hgvs_p": null,
"transcript": "ENST00000894386.1",
"protein_id": "ENSP00000564445.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "n.*221G>A",
"hgvs_p": null,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "n.*351G>A",
"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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "n.*221G>A",
"hgvs_p": null,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51",
"gene_hgnc_id": 9817,
"hgvs_c": "n.*351G>A",
"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": "rs1555429629",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7966084480285645,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.734000027179718,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.511,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.956,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.968,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.919732596502168,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
"PM2",
"PM5",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_133487.4",
"gene_symbol": "RAD51",
"hgnc_id": 9817,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Glu259Lys"
}
],
"clinvar_disease": "Fanconi anemia complementation group R",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"phenotype_combined": "Fanconi anemia complementation group R",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}