← 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: 17-35103301-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35103301&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 35103301,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000345365.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Ala231Ser",
"transcript": "NM_002878.4",
"protein_id": "NP_002869.3",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 328,
"cds_start": 691,
"cds_end": null,
"cds_length": 987,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 9966,
"mane_select": "ENST00000345365.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Ala231Ser",
"transcript": "ENST00000345365.11",
"protein_id": "ENSP00000338790.6",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 328,
"cds_start": 691,
"cds_end": null,
"cds_length": 987,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 9966,
"mane_select": "NM_002878.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.556G>T",
"hgvs_p": "p.Ala186Ser",
"transcript": "ENST00000586186.3",
"protein_id": "ENSP00000468273.3",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 283,
"cds_start": 556,
"cds_end": null,
"cds_length": 852,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 3336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267618",
"gene_hgnc_id": null,
"hgvs_c": "c.214G>T",
"hgvs_p": "p.Ala72Ser",
"transcript": "ENST00000593039.5",
"protein_id": "ENSP00000466834.1",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 272,
"cds_start": 214,
"cds_end": null,
"cds_length": 819,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"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": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Ala119Ser",
"transcript": "ENST00000335858.11",
"protein_id": "ENSP00000338408.6",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 216,
"cds_start": 355,
"cds_end": null,
"cds_length": 651,
"cdna_start": 487,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*422G>T",
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*285G>T",
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*422G>T",
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*285G>T",
"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": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.751G>T",
"hgvs_p": "p.Ala251Ser",
"transcript": "NM_001142571.2",
"protein_id": "NP_001136043.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 348,
"cds_start": 751,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 9924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.751G>T",
"hgvs_p": "p.Ala251Ser",
"transcript": "ENST00000590016.6",
"protein_id": "ENSP00000466399.1",
"transcript_support_level": 2,
"aa_start": 251,
"aa_end": null,
"aa_length": 348,
"cds_start": 751,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 10026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Ala231Ser",
"transcript": "ENST00000394589.8",
"protein_id": "ENSP00000378090.4",
"transcript_support_level": 5,
"aa_start": 231,
"aa_end": null,
"aa_length": 328,
"cds_start": 691,
"cds_end": null,
"cds_length": 987,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"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": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Ala119Ser",
"transcript": "NM_133629.3",
"protein_id": "NP_598332.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 216,
"cds_start": 355,
"cds_end": null,
"cds_length": 651,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 9528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.334G>T",
"hgvs_p": "p.Ala112Ser",
"transcript": "ENST00000587405.6",
"protein_id": "ENSP00000466478.2",
"transcript_support_level": 5,
"aa_start": 112,
"aa_end": null,
"aa_length": 209,
"cds_start": 334,
"cds_end": null,
"cds_length": 630,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.334G>T",
"hgvs_p": "p.Ala112Ser",
"transcript": "ENST00000592577.6",
"protein_id": "ENSP00000466839.2",
"transcript_support_level": 5,
"aa_start": 112,
"aa_end": null,
"aa_length": 209,
"cds_start": 334,
"cds_end": null,
"cds_length": 630,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267618",
"gene_hgnc_id": null,
"hgvs_c": "c.334G>T",
"hgvs_p": "p.Ala112Ser",
"transcript": "ENST00000592181.1",
"protein_id": "ENSP00000464799.1",
"transcript_support_level": 5,
"aa_start": 112,
"aa_end": null,
"aa_length": 203,
"cds_start": 334,
"cds_end": null,
"cds_length": 612,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.160G>T",
"hgvs_p": "p.Ala54Ser",
"transcript": "ENST00000460118.6",
"protein_id": "ENSP00000464356.2",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
"aa_length": 151,
"cds_start": 160,
"cds_end": null,
"cds_length": 456,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 1064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"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.160G>T",
"hgvs_p": "p.Ala54Ser",
"transcript": "ENST00000591723.5",
"protein_id": "ENSP00000467986.1",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
"aa_length": 127,
"cds_start": 160,
"cds_end": null,
"cds_length": 384,
"cdna_start": 452,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*431G>T",
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*174G>T",
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*287G>T",
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.717G>T",
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.582G>T",
"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,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9610,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51L3-RFFL",
"gene_hgnc_id": null,
"hgvs_c": "n.443G>T",
"hgvs_p": null,
"transcript": "NR_037714.1",
"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": 3904,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*431G>T",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*174G>T",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*287G>T",
"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": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*215G>T",
"hgvs_p": null,
"transcript": "ENST00000590631.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"dbsnp": "rs772135704",
"frequency_reference_population": 0.000029158246,
"hom_count_reference_population": 0,
"allele_count_reference_population": 47,
"gnomad_exomes_af": 0.0000315128,
"gnomad_genomes_af": 0.0000065716,
"gnomad_exomes_ac": 46,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4514547288417816,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
"alphamissense_score": 0.116,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.112,
"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.691G>T",
"hgvs_p": "p.Ala231Ser"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000593039.5",
"gene_symbol": "ENSG00000267618",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.214G>T",
"hgvs_p": "p.Ala72Ser"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"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.443G>T",
"hgvs_p": null
}
],
"clinvar_disease": " 4, familial, susceptibility to,Breast-ovarian cancer,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:1",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Breast-ovarian cancer, familial, susceptibility to, 4|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}