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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: 1-209781402-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=209781402&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 209781402,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_025228.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.1507C>A",
"hgvs_p": "p.Arg503Ser",
"transcript": "NM_025228.4",
"protein_id": "NP_079504.2",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 551,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367025.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025228.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.1507C>A",
"hgvs_p": "p.Arg503Ser",
"transcript": "ENST00000367025.8",
"protein_id": "ENSP00000355992.3",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 551,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025228.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367025.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.1447C>A",
"hgvs_p": "p.Arg483Ser",
"transcript": "ENST00000367026.7",
"protein_id": "ENSP00000355993.3",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 531,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367026.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf74",
"gene_hgnc_id": 26319,
"hgvs_c": "c.*1423G>T",
"hgvs_p": null,
"transcript": "NM_152485.4",
"protein_id": "NP_689698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": null,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000294811.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152485.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1orf74",
"gene_hgnc_id": 26319,
"hgvs_c": "c.*1423G>T",
"hgvs_p": null,
"transcript": "ENST00000294811.2",
"protein_id": "ENSP00000294811.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 269,
"cds_start": null,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152485.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294811.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"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": "ENSG00000289700",
"gene_hgnc_id": null,
"hgvs_c": "c.*2247G>T",
"hgvs_p": null,
"transcript": "ENST00000696133.1",
"protein_id": "ENSP00000512426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 486,
"cds_start": null,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696133.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.1507C>A",
"hgvs_p": "p.Arg503Ser",
"transcript": "NM_001320143.2",
"protein_id": "NP_001307072.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 551,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320143.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.1507C>A",
"hgvs_p": "p.Arg503Ser",
"transcript": "ENST00000367024.5",
"protein_id": "ENSP00000355991.1",
"transcript_support_level": 2,
"aa_start": 503,
"aa_end": null,
"aa_length": 551,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367024.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.1507C>A",
"hgvs_p": "p.Arg503Ser",
"transcript": "ENST00000884882.1",
"protein_id": "ENSP00000554941.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 551,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884882.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.1447C>A",
"hgvs_p": "p.Arg483Ser",
"transcript": "NM_001320144.2",
"protein_id": "NP_001307073.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 531,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320144.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.1447C>A",
"hgvs_p": "p.Arg483Ser",
"transcript": "ENST00000884881.1",
"protein_id": "ENSP00000554940.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 531,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884881.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.1444C>A",
"hgvs_p": "p.Arg482Ser",
"transcript": "ENST00000884880.1",
"protein_id": "ENSP00000554939.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 530,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884880.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.1387C>A",
"hgvs_p": "p.Arg463Ser",
"transcript": "ENST00000884884.1",
"protein_id": "ENSP00000554943.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 511,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884884.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.1384C>A",
"hgvs_p": "p.Arg462Ser",
"transcript": "ENST00000884883.1",
"protein_id": "ENSP00000554942.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 510,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884883.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.1324C>A",
"hgvs_p": "p.Arg442Ser",
"transcript": "ENST00000957589.1",
"protein_id": "ENSP00000627648.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 490,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957589.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.715C>A",
"hgvs_p": "p.Arg239Ser",
"transcript": "XM_005273279.6",
"protein_id": "XP_005273336.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 287,
"cds_start": 715,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273279.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.*20C>A",
"hgvs_p": null,
"transcript": "XM_047430964.1",
"protein_id": "XP_047286920.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 449,
"cds_start": null,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430964.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.*1949C>A",
"hgvs_p": null,
"transcript": "XM_011510018.4",
"protein_id": "XP_011508320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": null,
"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": "XM_011510018.4"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.398-654C>A",
"hgvs_p": null,
"transcript": "ENST00000477431.1",
"protein_id": "ENSP00000417417.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477431.1"
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "c.1313-654C>A",
"hgvs_p": null,
"transcript": "XM_047430963.1",
"protein_id": "XP_047286919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": null,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430963.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "n.2293C>A",
"hgvs_p": null,
"transcript": "ENST00000460314.1",
"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": "ENST00000460314.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAF3IP3",
"gene_hgnc_id": 30766,
"hgvs_c": "n.564C>A",
"hgvs_p": null,
"transcript": "ENST00000467830.1",
"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": "pseudogene",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "TRAF3IP3",
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"transcript": "ENST00000471368.1",
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"biotype": "nonsense_mediated_decay",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "TRAF3IP3",
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"dbsnp": "rs753377939",
"frequency_reference_population": 6.84354e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84354e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06102097034454346,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.239,
"revel_prediction": "Benign",
"alphamissense_score": 0.2596,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.095,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_025228.4",
"gene_symbol": "TRAF3IP3",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1507C>A",
"hgvs_p": "p.Arg503Ser"
},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_152485.4",
"gene_symbol": "C1orf74",
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"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1423G>T",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000696133.1",
"gene_symbol": "ENSG00000289700",
"hgnc_id": null,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*2247G>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}