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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: 17-4990169-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4990169&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 4990169,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001167986.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "NM_001394789.1",
"protein_id": "NP_001381718.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 236,
"cds_start": 141,
"cds_end": null,
"cds_length": 711,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 1051,
"mane_select": "ENST00000695324.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394789.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "ENST00000695324.1",
"protein_id": "ENSP00000511805.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 236,
"cds_start": 141,
"cds_end": null,
"cds_length": 711,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 1051,
"mane_select": "NM_001394789.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695324.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "ENST00000574617.1",
"protein_id": "ENSP00000458316.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 236,
"cds_start": 141,
"cds_end": null,
"cds_length": 711,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 1260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574617.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "ENST00000576820.5",
"protein_id": "ENSP00000460673.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 236,
"cds_start": 141,
"cds_end": null,
"cds_length": 711,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576820.5"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "ENST00000355025.7",
"protein_id": "ENSP00000347129.3",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 221,
"cds_start": 141,
"cds_end": null,
"cds_length": 666,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 1383,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355025.7"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "ENST00000575780.5",
"protein_id": "ENSP00000461844.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 221,
"cds_start": 141,
"cds_end": null,
"cds_length": 666,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 1221,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575780.5"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "NM_001167986.2",
"protein_id": "NP_001161458.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 236,
"cds_start": 141,
"cds_end": null,
"cds_length": 711,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 1465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167986.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "NM_001167987.2",
"protein_id": "NP_001161459.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 236,
"cds_start": 141,
"cds_end": null,
"cds_length": 711,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 1178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167987.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "NM_001394788.1",
"protein_id": "NP_001381717.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 236,
"cds_start": 141,
"cds_end": null,
"cds_length": 711,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 1176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394788.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "ENST00000895019.1",
"protein_id": "ENSP00000565078.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 236,
"cds_start": 141,
"cds_end": null,
"cds_length": 711,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 1561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895019.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "ENST00000895021.1",
"protein_id": "ENSP00000565080.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 236,
"cds_start": 141,
"cds_end": null,
"cds_length": 711,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 1303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895021.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "ENST00000895023.1",
"protein_id": "ENSP00000565082.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 236,
"cds_start": 141,
"cds_end": null,
"cds_length": 711,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 1260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895023.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "ENST00000895024.1",
"protein_id": "ENSP00000565083.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 236,
"cds_start": 141,
"cds_end": null,
"cds_length": 711,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895024.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "ENST00000949043.1",
"protein_id": "ENSP00000619102.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 236,
"cds_start": 141,
"cds_end": null,
"cds_length": 711,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949043.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "ENST00000949045.1",
"protein_id": "ENSP00000619104.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 236,
"cds_start": 141,
"cds_end": null,
"cds_length": 711,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949045.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "ENST00000949046.1",
"protein_id": "ENSP00000619105.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 236,
"cds_start": 141,
"cds_end": null,
"cds_length": 711,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 1800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949046.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "NM_001167985.2",
"protein_id": "NP_001161457.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 221,
"cds_start": 141,
"cds_end": null,
"cds_length": 666,
"cdna_start": 333,
"cdna_end": null,
"cdna_length": 1133,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167985.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "NM_001394790.1",
"protein_id": "NP_001381719.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 221,
"cds_start": 141,
"cds_end": null,
"cds_length": 666,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 1131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394790.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "NM_001394791.1",
"protein_id": "NP_001381720.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 221,
"cds_start": 141,
"cds_end": null,
"cds_length": 666,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 1006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394791.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "NM_213726.3",
"protein_id": "NP_998891.2",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 221,
"cds_start": 141,
"cds_end": null,
"cds_length": 666,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 1295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213726.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "ENST00000895020.1",
"protein_id": "ENSP00000565079.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 221,
"cds_start": 141,
"cds_end": null,
"cds_length": 666,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 1390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895020.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INCA1",
"gene_hgnc_id": 32224,
"hgvs_c": "c.141C>G",
"hgvs_p": "p.Asn47Lys",
"transcript": "ENST00000895022.1",
"protein_id": "ENSP00000565081.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 221,
"cds_start": 141,
"cds_end": null,
"cds_length": 666,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 1516,
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{
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{
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{
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{
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{
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{
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{
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},
{
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],
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},
{
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],
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"gene_symbol": "CAMTA2-AS1",
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"transcript": "NR_187235.1",
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],
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"dbsnp": "rs146922811",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 242,
"gnomad_exomes_af": 0.000159383,
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"gnomad_genomes_ac": 9,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16827577352523804,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
"alphamissense_score": 0.403,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001167986.2",
"gene_symbol": "INCA1",
"hgnc_id": 32224,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.141C>G",
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},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000717674.1",
"gene_symbol": "CAMTA2-AS1",
"hgnc_id": 55342,
"effects": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1150G>C",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}