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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: 17-35101205-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35101205&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 35101205,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000345365.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300Gln",
"transcript": "NM_002878.4",
"protein_id": "NP_002869.3",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 328,
"cds_start": 899,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 9966,
"mane_select": "ENST00000345365.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300Gln",
"transcript": "ENST00000345365.11",
"protein_id": "ENSP00000338790.6",
"transcript_support_level": 1,
"aa_start": 300,
"aa_end": null,
"aa_length": 328,
"cds_start": 899,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 9966,
"mane_select": "NM_002878.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.764G>A",
"hgvs_p": "p.Arg255Gln",
"transcript": "ENST00000586186.3",
"protein_id": "ENSP00000468273.3",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 283,
"cds_start": 764,
"cds_end": null,
"cds_length": 852,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 3336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267618",
"gene_hgnc_id": null,
"hgvs_c": "c.422G>A",
"hgvs_p": "p.Arg141Gln",
"transcript": "ENST00000593039.5",
"protein_id": "ENSP00000466834.1",
"transcript_support_level": 2,
"aa_start": 141,
"aa_end": null,
"aa_length": 272,
"cds_start": 422,
"cds_end": null,
"cds_length": 819,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.563G>A",
"hgvs_p": "p.Arg188Gln",
"transcript": "ENST00000335858.11",
"protein_id": "ENSP00000338408.6",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 216,
"cds_start": 563,
"cds_end": null,
"cds_length": 651,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 1353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*630G>A",
"hgvs_p": null,
"transcript": "ENST00000586044.5",
"protein_id": "ENSP00000465584.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*493G>A",
"hgvs_p": null,
"transcript": "ENST00000586210.5",
"protein_id": "ENSP00000465612.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*630G>A",
"hgvs_p": null,
"transcript": "ENST00000586044.5",
"protein_id": "ENSP00000465584.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*493G>A",
"hgvs_p": null,
"transcript": "ENST00000586210.5",
"protein_id": "ENSP00000465612.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Arg320Gln",
"transcript": "NM_001142571.2",
"protein_id": "NP_001136043.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 348,
"cds_start": 959,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 9924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Arg320Gln",
"transcript": "ENST00000590016.6",
"protein_id": "ENSP00000466399.1",
"transcript_support_level": 2,
"aa_start": 320,
"aa_end": null,
"aa_length": 348,
"cds_start": 959,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 1206,
"cdna_end": null,
"cdna_length": 10026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300Gln",
"transcript": "ENST00000394589.8",
"protein_id": "ENSP00000378090.4",
"transcript_support_level": 5,
"aa_start": 300,
"aa_end": null,
"aa_length": 328,
"cds_start": 899,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.563G>A",
"hgvs_p": "p.Arg188Gln",
"transcript": "NM_133629.3",
"protein_id": "NP_598332.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 216,
"cds_start": 563,
"cds_end": null,
"cds_length": 651,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 9528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Arg181Gln",
"transcript": "ENST00000587405.6",
"protein_id": "ENSP00000466478.2",
"transcript_support_level": 5,
"aa_start": 181,
"aa_end": null,
"aa_length": 209,
"cds_start": 542,
"cds_end": null,
"cds_length": 630,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Arg181Gln",
"transcript": "ENST00000592577.6",
"protein_id": "ENSP00000466839.2",
"transcript_support_level": 5,
"aa_start": 181,
"aa_end": null,
"aa_length": 209,
"cds_start": 542,
"cds_end": null,
"cds_length": 630,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267618",
"gene_hgnc_id": null,
"hgvs_c": "c.542G>A",
"hgvs_p": "p.Arg181Gln",
"transcript": "ENST00000592181.1",
"protein_id": "ENSP00000464799.1",
"transcript_support_level": 5,
"aa_start": 181,
"aa_end": null,
"aa_length": 203,
"cds_start": 542,
"cds_end": null,
"cds_length": 612,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "ENST00000460118.6",
"protein_id": "ENSP00000464356.2",
"transcript_support_level": 5,
"aa_start": 123,
"aa_end": null,
"aa_length": 151,
"cds_start": 368,
"cds_end": null,
"cds_length": 456,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 1064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267618",
"gene_hgnc_id": null,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "ENST00000591723.5",
"protein_id": "ENSP00000467986.1",
"transcript_support_level": 5,
"aa_start": 123,
"aa_end": null,
"aa_length": 127,
"cds_start": 368,
"cds_end": null,
"cds_length": 384,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*639G>A",
"hgvs_p": null,
"transcript": "ENST00000587977.5",
"protein_id": "ENSP00000466587.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*382G>A",
"hgvs_p": null,
"transcript": "ENST00000588372.5",
"protein_id": "ENSP00000468764.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*495G>A",
"hgvs_p": null,
"transcript": "ENST00000588594.5",
"protein_id": "ENSP00000465366.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.925G>A",
"hgvs_p": null,
"transcript": "NR_037711.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.790G>A",
"hgvs_p": null,
"transcript": "NR_037712.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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{
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},
{
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{
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"gene_symbol": "RAD51D",
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],
"gene_symbol": "RAD51D",
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6499230861663818,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.319,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5828,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.735,
"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": "ENST00000345365.11",
"gene_symbol": "RAD51D",
"hgnc_id": 9823,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.899G>A",
"hgvs_p": "p.Arg300Gln"
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000593039.5",
"gene_symbol": "ENSG00000267618",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.422G>A",
"hgvs_p": "p.Arg141Gln"
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_037714.1",
"gene_symbol": "RAD51L3-RFFL",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.651G>A",
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}
],
"clinvar_disease": " 4, familial, susceptibility to,Breast-ovarian cancer,Hereditary breast ovarian cancer syndrome,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:9",
"phenotype_combined": "Breast-ovarian cancer, familial, susceptibility to, 4|not provided|Hereditary breast ovarian cancer syndrome|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}