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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: 18-70005258-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=70005258&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 70005258,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_173630.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.6535G>C",
"hgvs_p": "p.Ala2179Pro",
"transcript": "NM_173630.4",
"protein_id": "NP_775901.3",
"transcript_support_level": null,
"aa_start": 2179,
"aa_end": null,
"aa_length": 2226,
"cds_start": 6535,
"cds_end": null,
"cds_length": 6681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000640769.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173630.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.6535G>C",
"hgvs_p": "p.Ala2179Pro",
"transcript": "ENST00000640769.2",
"protein_id": "ENSP00000491507.1",
"transcript_support_level": 2,
"aa_start": 2179,
"aa_end": null,
"aa_length": 2226,
"cds_start": 6535,
"cds_end": null,
"cds_length": 6681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173630.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640769.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.*4849G>C",
"hgvs_p": null,
"transcript": "ENST00000581161.5",
"protein_id": "ENSP00000462926.1",
"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": "ENST00000581161.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.*3775G>C",
"hgvs_p": null,
"transcript": "ENST00000583043.5",
"protein_id": "ENSP00000462733.1",
"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": "ENST00000583043.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.*4849G>C",
"hgvs_p": null,
"transcript": "ENST00000581161.5",
"protein_id": "ENSP00000462926.1",
"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": "ENST00000581161.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.*3775G>C",
"hgvs_p": null,
"transcript": "ENST00000583043.5",
"protein_id": "ENSP00000462733.1",
"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": "ENST00000583043.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.6556G>C",
"hgvs_p": "p.Ala2186Pro",
"transcript": "ENST00000917940.1",
"protein_id": "ENSP00000587999.1",
"transcript_support_level": null,
"aa_start": 2186,
"aa_end": null,
"aa_length": 2233,
"cds_start": 6556,
"cds_end": null,
"cds_length": 6702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917940.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.6538G>C",
"hgvs_p": "p.Ala2180Pro",
"transcript": "ENST00000917941.1",
"protein_id": "ENSP00000588000.1",
"transcript_support_level": null,
"aa_start": 2180,
"aa_end": null,
"aa_length": 2227,
"cds_start": 6538,
"cds_end": null,
"cds_length": 6684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917941.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.6535G>C",
"hgvs_p": "p.Ala2179Pro",
"transcript": "ENST00000255674.11",
"protein_id": "ENSP00000255674.7",
"transcript_support_level": 5,
"aa_start": 2179,
"aa_end": null,
"aa_length": 2200,
"cds_start": 6535,
"cds_end": null,
"cds_length": 6603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000255674.11"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.3934G>C",
"hgvs_p": "p.Ala1312Pro",
"transcript": "ENST00000677824.1",
"protein_id": "ENSP00000504646.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1359,
"cds_start": 3934,
"cds_end": null,
"cds_length": 4080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677824.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.3799G>C",
"hgvs_p": "p.Ala1267Pro",
"transcript": "NM_001318520.2",
"protein_id": "NP_001305449.1",
"transcript_support_level": null,
"aa_start": 1267,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3799,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318520.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"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": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.1042G>C",
"hgvs_p": "p.Ala348Pro",
"transcript": "ENST00000578780.2",
"protein_id": "ENSP00000462675.2",
"transcript_support_level": 5,
"aa_start": 348,
"aa_end": null,
"aa_length": 395,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578780.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.6538G>C",
"hgvs_p": "p.Ala2180Pro",
"transcript": "XM_006722434.4",
"protein_id": "XP_006722497.1",
"transcript_support_level": null,
"aa_start": 2180,
"aa_end": null,
"aa_length": 2227,
"cds_start": 6538,
"cds_end": null,
"cds_length": 6684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722434.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.6298G>C",
"hgvs_p": "p.Ala2100Pro",
"transcript": "XM_011525902.3",
"protein_id": "XP_011524204.1",
"transcript_support_level": null,
"aa_start": 2100,
"aa_end": null,
"aa_length": 2147,
"cds_start": 6298,
"cds_end": null,
"cds_length": 6444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525902.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.6295G>C",
"hgvs_p": "p.Ala2099Pro",
"transcript": "XM_017025693.2",
"protein_id": "XP_016881182.1",
"transcript_support_level": null,
"aa_start": 2099,
"aa_end": null,
"aa_length": 2146,
"cds_start": 6295,
"cds_end": null,
"cds_length": 6441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025693.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.6109G>C",
"hgvs_p": "p.Ala2037Pro",
"transcript": "XM_011525903.3",
"protein_id": "XP_011524205.1",
"transcript_support_level": null,
"aa_start": 2037,
"aa_end": null,
"aa_length": 2084,
"cds_start": 6109,
"cds_end": null,
"cds_length": 6255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525903.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.6106G>C",
"hgvs_p": "p.Ala2036Pro",
"transcript": "XM_047437468.1",
"protein_id": "XP_047293424.1",
"transcript_support_level": null,
"aa_start": 2036,
"aa_end": null,
"aa_length": 2083,
"cds_start": 6106,
"cds_end": null,
"cds_length": 6252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437468.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.5896G>C",
"hgvs_p": "p.Ala1966Pro",
"transcript": "XM_017025694.2",
"protein_id": "XP_016881183.1",
"transcript_support_level": null,
"aa_start": 1966,
"aa_end": null,
"aa_length": 2013,
"cds_start": 5896,
"cds_end": null,
"cds_length": 6042,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025694.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.5473G>C",
"hgvs_p": "p.Ala1825Pro",
"transcript": "XM_017025695.2",
"protein_id": "XP_016881184.1",
"transcript_support_level": null,
"aa_start": 1825,
"aa_end": null,
"aa_length": 1872,
"cds_start": 5473,
"cds_end": null,
"cds_length": 5619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025695.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.5038G>C",
"hgvs_p": "p.Ala1680Pro",
"transcript": "XM_011525906.3",
"protein_id": "XP_011524208.1",
"transcript_support_level": null,
"aa_start": 1680,
"aa_end": null,
"aa_length": 1727,
"cds_start": 5038,
"cds_end": null,
"cds_length": 5184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525906.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "c.3334G>C",
"hgvs_p": "p.Ala1112Pro",
"transcript": "XM_047437471.1",
"protein_id": "XP_047293427.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3334,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437471.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"hgvs_c": "n.*1659G>C",
"hgvs_p": null,
"transcript": "ENST00000579986.6",
"protein_id": "ENSP00000491518.1",
"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,
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{
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{
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{
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"feature": "ENST00000639487.1"
},
{
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"protein_coding": false,
"strand": false,
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],
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{
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{
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"consequences": [
"3_prime_UTR_variant"
],
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{
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"gene_symbol": "RTTN",
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"feature": "ENST00000639487.1"
},
{
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"3_prime_UTR_variant"
],
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"gene_symbol": "RTTN",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679113.1"
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],
"gene_symbol": "RTTN",
"gene_hgnc_id": 18654,
"dbsnp": "rs587780444",
"frequency_reference_population": 0.000027397973,
"hom_count_reference_population": 1,
"allele_count_reference_population": 40,
"gnomad_exomes_af": 0.000027398,
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"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0939355194568634,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.228,
"revel_prediction": "Benign",
"alphamissense_score": 0.3563,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.662,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS1_Supporting",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_173630.4",
"gene_symbol": "RTTN",
"hgnc_id": 18654,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6535G>C",
"hgvs_p": "p.Ala2179Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}