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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: 11-65654447-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65654447&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65654447,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001404657.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1587A>G",
"hgvs_p": "p.Ser529Ser",
"transcript": "NM_021975.4",
"protein_id": "NP_068810.3",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 551,
"cds_start": 1587,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000406246.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021975.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1587A>G",
"hgvs_p": "p.Ser529Ser",
"transcript": "ENST00000406246.8",
"protein_id": "ENSP00000384273.3",
"transcript_support_level": 1,
"aa_start": 529,
"aa_end": null,
"aa_length": 551,
"cds_start": 1587,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021975.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406246.8"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1578A>G",
"hgvs_p": "p.Ser526Ser",
"transcript": "ENST00000308639.13",
"protein_id": "ENSP00000311508.9",
"transcript_support_level": 1,
"aa_start": 526,
"aa_end": null,
"aa_length": 548,
"cds_start": 1578,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308639.13"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1278A>G",
"hgvs_p": "p.Ser426Ser",
"transcript": "ENST00000612991.4",
"protein_id": "ENSP00000483705.1",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 448,
"cds_start": 1278,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612991.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.*1140A>G",
"hgvs_p": null,
"transcript": "ENST00000525693.5",
"protein_id": "ENSP00000432537.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": null,
"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": "ENST00000525693.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1620A>G",
"hgvs_p": "p.Ser540Ser",
"transcript": "NM_001404657.1",
"protein_id": "NP_001391586.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 562,
"cds_start": 1620,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001404657.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1578A>G",
"hgvs_p": "p.Ser526Ser",
"transcript": "NM_001145138.2",
"protein_id": "NP_001138610.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 548,
"cds_start": 1578,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145138.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1560A>G",
"hgvs_p": "p.Ser520Ser",
"transcript": "NM_001404658.1",
"protein_id": "NP_001391587.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 542,
"cds_start": 1560,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001404658.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1557A>G",
"hgvs_p": "p.Ser519Ser",
"transcript": "ENST00000931854.1",
"protein_id": "ENSP00000601913.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 541,
"cds_start": 1557,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931854.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1494A>G",
"hgvs_p": "p.Ser498Ser",
"transcript": "NM_001404662.1",
"protein_id": "NP_001391591.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 520,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001404662.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1494A>G",
"hgvs_p": "p.Ser498Ser",
"transcript": "NM_001404663.1",
"protein_id": "NP_001391592.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 520,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001404663.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1482A>G",
"hgvs_p": "p.Ser494Ser",
"transcript": "ENST00000959966.1",
"protein_id": "ENSP00000630025.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 516,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959966.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1476A>G",
"hgvs_p": "p.Ser492Ser",
"transcript": "ENST00000878957.1",
"protein_id": "ENSP00000549016.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 514,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878957.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1380A>G",
"hgvs_p": "p.Ser460Ser",
"transcript": "NM_001243984.2",
"protein_id": "NP_001230913.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 482,
"cds_start": 1380,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243984.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1374A>G",
"hgvs_p": "p.Ser458Ser",
"transcript": "NM_001404659.1",
"protein_id": "NP_001391588.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 480,
"cds_start": 1374,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001404659.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1374A>G",
"hgvs_p": "p.Ser458Ser",
"transcript": "ENST00000931853.1",
"protein_id": "ENSP00000601912.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 480,
"cds_start": 1374,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931853.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1278A>G",
"hgvs_p": "p.Ser426Ser",
"transcript": "NM_001243985.2",
"protein_id": "NP_001230914.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 448,
"cds_start": 1278,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243985.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1269A>G",
"hgvs_p": "p.Ser423Ser",
"transcript": "NM_001404660.1",
"protein_id": "NP_001391589.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 445,
"cds_start": 1269,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001404660.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1227A>G",
"hgvs_p": "p.Ser409Ser",
"transcript": "ENST00000959967.1",
"protein_id": "ENSP00000630026.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 431,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959967.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1206A>G",
"hgvs_p": "p.Ser402Ser",
"transcript": "NM_001404661.1",
"protein_id": "NP_001391590.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 424,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001404661.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1494A>G",
"hgvs_p": "p.Ser498Ser",
"transcript": "XM_047427392.1",
"protein_id": "XP_047283348.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 520,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427392.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "n.*382A>G",
"hgvs_p": null,
"transcript": "ENST00000526283.6",
"protein_id": "ENSP00000435290.1",
"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": "ENST00000526283.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "n.1771A>G",
"hgvs_p": null,
"transcript": "ENST00000531484.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000531484.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "n.*382A>G",
"hgvs_p": null,
"transcript": "ENST00000526283.6",
"protein_id": "ENSP00000435290.1",
"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": "ENST00000526283.6"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000306723",
"gene_hgnc_id": null,
"hgvs_c": "n.*151T>C",
"hgvs_p": null,
"transcript": "ENST00000820466.1",
"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": "pseudogene",
"feature": "ENST00000820466.1"
}
],
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"dbsnp": "rs748084685",
"frequency_reference_population": 0.0000049692835,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000411595,
"gnomad_genomes_af": 0.0000131453,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.005,
"phylop100way_prediction": "Benign",
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001404657.1",
"gene_symbol": "RELA",
"hgnc_id": 9955,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1620A>G",
"hgvs_p": "p.Ser540Ser"
},
{
"score": -10,
"benign_score": 12,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000820466.1",
"gene_symbol": "ENSG00000306723",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*151T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}