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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: 17-8232126-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8232126&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8232126,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_025099.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2162G>C",
"hgvs_p": "p.Gly721Ala",
"transcript": "NM_025099.6",
"protein_id": "NP_079375.3",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1217,
"cds_start": 2162,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000651323.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025099.6"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2162G>C",
"hgvs_p": "p.Gly721Ala",
"transcript": "ENST00000651323.1",
"protein_id": "ENSP00000498499.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1217,
"cds_start": 2162,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025099.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651323.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2162G>C",
"hgvs_p": "p.Gly721Ala",
"transcript": "ENST00000932859.1",
"protein_id": "ENSP00000602918.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1206,
"cds_start": 2162,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932859.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2162G>C",
"hgvs_p": "p.Gly721Ala",
"transcript": "ENST00000968384.1",
"protein_id": "ENSP00000638443.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1185,
"cds_start": 2162,
"cds_end": null,
"cds_length": 3558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968384.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2162G>C",
"hgvs_p": "p.Gly721Ala",
"transcript": "NM_001411067.1",
"protein_id": "NP_001397996.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1140,
"cds_start": 2162,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411067.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2162G>C",
"hgvs_p": "p.Gly721Ala",
"transcript": "ENST00000581729.2",
"protein_id": "ENSP00000462720.2",
"transcript_support_level": 3,
"aa_start": 721,
"aa_end": null,
"aa_length": 1140,
"cds_start": 2162,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581729.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2162G>C",
"hgvs_p": "p.Gly721Ala",
"transcript": "ENST00000580299.2",
"protein_id": "ENSP00000462607.2",
"transcript_support_level": 5,
"aa_start": 721,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2162,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580299.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2162G>C",
"hgvs_p": "p.Gly721Ala",
"transcript": "ENST00000932861.1",
"protein_id": "ENSP00000602920.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1121,
"cds_start": 2162,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932861.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2033G>C",
"hgvs_p": "p.Gly678Ala",
"transcript": "ENST00000932860.1",
"protein_id": "ENSP00000602919.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 1097,
"cds_start": 2033,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932860.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Gly422Ala",
"transcript": "ENST00000699849.1",
"protein_id": "ENSP00000514647.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 841,
"cds_start": 1265,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699849.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2057G>C",
"hgvs_p": "p.Gly686Ala",
"transcript": "XM_011524010.3",
"protein_id": "XP_011522312.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 1182,
"cds_start": 2057,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524010.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2033G>C",
"hgvs_p": "p.Gly678Ala",
"transcript": "XM_006721577.4",
"protein_id": "XP_006721640.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 1174,
"cds_start": 2033,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721577.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1928G>C",
"hgvs_p": "p.Gly643Ala",
"transcript": "XM_047436799.1",
"protein_id": "XP_047292755.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 1139,
"cds_start": 1928,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436799.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2162G>C",
"hgvs_p": "p.Gly721Ala",
"transcript": "XM_047436800.1",
"protein_id": "XP_047292756.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1138,
"cds_start": 2162,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436800.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2057G>C",
"hgvs_p": "p.Gly686Ala",
"transcript": "XM_047436801.1",
"protein_id": "XP_047292757.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2057,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436801.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2033G>C",
"hgvs_p": "p.Gly678Ala",
"transcript": "XM_047436802.1",
"protein_id": "XP_047292758.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 1097,
"cds_start": 2033,
"cds_end": null,
"cds_length": 3294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436802.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2162G>C",
"hgvs_p": "p.Gly721Ala",
"transcript": "XM_047436803.1",
"protein_id": "XP_047292759.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1082,
"cds_start": 2162,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436803.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2162G>C",
"hgvs_p": "p.Gly721Ala",
"transcript": "XM_047436804.1",
"protein_id": "XP_047292760.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 1066,
"cds_start": 2162,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436804.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2162G>C",
"hgvs_p": "p.Gly721Ala",
"transcript": "XM_047436805.1",
"protein_id": "XP_047292761.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 979,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436805.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.2057G>C",
"hgvs_p": "p.Gly686Ala",
"transcript": "XM_047436806.1",
"protein_id": "XP_047292762.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 944,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047436806.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Gly422Ala",
"transcript": "XM_011524011.3",
"protein_id": "XP_011522313.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 918,
"cds_start": 1265,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524011.3"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Gly422Ala",
"transcript": "XM_047436807.1",
"protein_id": "XP_047292763.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 918,
"cds_start": 1265,
"cds_end": null,
"cds_length": 2757,
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"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.*869G>C",
"hgvs_p": null,
"transcript": "ENST00000643543.1",
"protein_id": "ENSP00000494323.1",
"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,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643543.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.*838G>C",
"hgvs_p": null,
"transcript": "ENST00000699852.1",
"protein_id": "ENSP00000514648.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000699852.1"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"hgvs_c": "n.*775G>C",
"hgvs_p": null,
"transcript": "ENST00000699858.1",
"protein_id": "ENSP00000514651.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000699858.1"
}
],
"gene_symbol": "CTC1",
"gene_hgnc_id": 26169,
"dbsnp": "rs62620189",
"frequency_reference_population": 0.015821047,
"hom_count_reference_population": 254,
"allele_count_reference_population": 24205,
"gnomad_exomes_af": 0.0160741,
"gnomad_genomes_af": 0.0135307,
"gnomad_exomes_ac": 22145,
"gnomad_genomes_ac": 2060,
"gnomad_exomes_homalt": 237,
"gnomad_genomes_homalt": 17,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004512101411819458,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.24,
"revel_prediction": "Benign",
"alphamissense_score": 0.0742,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.933,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_025099.6",
"gene_symbol": "CTC1",
"hgnc_id": 26169,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2162G>C",
"hgvs_p": "p.Gly721Ala"
}
],
"clinvar_disease": "Cerebroretinal microangiopathy with calcifications and cysts 1,Dyskeratosis congenita,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:4",
"phenotype_combined": "Dyskeratosis congenita|not provided|Cerebroretinal microangiopathy with calcifications and cysts 1",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}