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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: 17-58696770-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=58696770&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 58696770,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_058216.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"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": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Glu161Val",
"transcript": "NM_058216.3",
"protein_id": "NP_478123.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 376,
"cds_start": 482,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337432.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_058216.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"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": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Glu161Val",
"transcript": "ENST00000337432.9",
"protein_id": "ENSP00000336701.4",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 376,
"cds_start": 482,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_058216.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337432.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "n.404+1581A>T",
"hgvs_p": null,
"transcript": "ENST00000482007.5",
"protein_id": "ENSP00000433332.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000482007.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Glu161Val",
"transcript": "ENST00000930423.1",
"protein_id": "ENSP00000600482.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 410,
"cds_start": 482,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930423.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Glu161Val",
"transcript": "ENST00000875229.1",
"protein_id": "ENSP00000545288.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 392,
"cds_start": 482,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875229.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Glu161Val",
"transcript": "ENST00000583539.5",
"protein_id": "ENSP00000463121.1",
"transcript_support_level": 2,
"aa_start": 161,
"aa_end": null,
"aa_length": 346,
"cds_start": 482,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583539.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Glu161Val",
"transcript": "ENST00000948099.1",
"protein_id": "ENSP00000618158.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 339,
"cds_start": 482,
"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": "ENST00000948099.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Glu161Val",
"transcript": "ENST00000930424.1",
"protein_id": "ENSP00000600483.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 313,
"cds_start": 482,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930424.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Glu161Val",
"transcript": "ENST00000697690.1",
"protein_id": "ENSP00000513399.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 305,
"cds_start": 482,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697690.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.131A>T",
"hgvs_p": "p.Glu44Val",
"transcript": "ENST00000697686.1",
"protein_id": "ENSP00000513397.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 286,
"cds_start": 131,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697686.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.131A>T",
"hgvs_p": "p.Glu44Val",
"transcript": "ENST00000697694.1",
"protein_id": "ENSP00000513402.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 259,
"cds_start": 131,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697694.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.119A>T",
"hgvs_p": "p.Glu40Val",
"transcript": "ENST00000413590.5",
"protein_id": "ENSP00000401741.1",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 256,
"cds_start": 119,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413590.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.131A>T",
"hgvs_p": "p.Glu44Val",
"transcript": "ENST00000461271.6",
"protein_id": "ENSP00000464056.2",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 229,
"cds_start": 131,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461271.6"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.278A>T",
"hgvs_p": "p.Glu93Val",
"transcript": "ENST00000425173.5",
"protein_id": "ENSP00000407282.1",
"transcript_support_level": 5,
"aa_start": 93,
"aa_end": null,
"aa_length": 212,
"cds_start": 278,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425173.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.218A>T",
"hgvs_p": "p.Glu73Val",
"transcript": "ENST00000622327.4",
"protein_id": "ENSP00000482326.1",
"transcript_support_level": 3,
"aa_start": 73,
"aa_end": null,
"aa_length": 131,
"cds_start": 218,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622327.4"
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Glu161Val",
"transcript": "XM_006722001.5",
"protein_id": "XP_006722064.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 377,
"cds_start": 482,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722001.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Glu161Val",
"transcript": "XM_006722002.5",
"protein_id": "XP_006722065.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 342,
"cds_start": 482,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722002.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.131A>T",
"hgvs_p": "p.Glu44Val",
"transcript": "XM_006722004.4",
"protein_id": "XP_006722067.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 260,
"cds_start": 131,
"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": "XM_006722004.4"
},
{
"aa_ref": "E",
"aa_alt": "V",
"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": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.131A>T",
"hgvs_p": "p.Glu44Val",
"transcript": "XM_011525094.3",
"protein_id": "XP_011523396.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 260,
"cds_start": 131,
"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": "XM_011525094.3"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Glu161Val",
"transcript": "XM_047436505.1",
"protein_id": "XP_047292461.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 239,
"cds_start": 482,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436505.1"
},
{
"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": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "n.*1185A>T",
"hgvs_p": null,
"transcript": "ENST00000475762.5",
"protein_id": "ENSP00000432421.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000475762.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "n.394A>T",
"hgvs_p": null,
"transcript": "ENST00000487921.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000487921.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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"hgvs_c": "n.450+1581A>T",
"hgvs_p": null,
"transcript": "ENST00000697687.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000697687.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "n.*1107+1581A>T",
"hgvs_p": null,
"transcript": "ENST00000697689.1",
"protein_id": "ENSP00000513398.1",
"transcript_support_level": null,
"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": "ENST00000697689.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"hgvs_c": "n.446+1581A>T",
"hgvs_p": null,
"transcript": "NR_103872.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_103872.2"
}
],
"gene_symbol": "RAD51C",
"gene_hgnc_id": 9820,
"dbsnp": "rs1555594725",
"frequency_reference_population": 0.0000034202767,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342028,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9720577001571655,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.892,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9194,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.34,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.373,
"phylop100way_prediction": "Uncertain_significance",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM1",
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_058216.3",
"gene_symbol": "RAD51C",
"hgnc_id": 9820,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.482A>T",
"hgvs_p": "p.Glu161Val"
}
],
"clinvar_disease": " 3, familial, susceptibility to,Breast-ovarian cancer,Fanconi anemia complementation group O,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not provided|Fanconi anemia complementation group O|Hereditary cancer-predisposing syndrome|Fanconi anemia complementation group O;Breast-ovarian cancer, familial, susceptibility to, 3",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}