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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: 3-1383034-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=1383034&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 1383034,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000446702.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.2259G>C",
"hgvs_p": "p.Val753Val",
"transcript": "NM_001289080.2",
"protein_id": "NP_001276009.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2259,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2438,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": "ENST00000446702.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.2259G>C",
"hgvs_p": "p.Val753Val",
"transcript": "ENST00000446702.7",
"protein_id": "ENSP00000407822.2",
"transcript_support_level": 1,
"aa_start": 753,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2259,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2438,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": "NM_001289080.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.2259G>C",
"hgvs_p": "p.Val753Val",
"transcript": "ENST00000350110.2",
"protein_id": "ENSP00000341882.2",
"transcript_support_level": 1,
"aa_start": 753,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2259,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2810,
"cdna_end": null,
"cdna_length": 3814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.2259G>C",
"hgvs_p": "p.Val753Val",
"transcript": "NM_001349350.2",
"protein_id": "NP_001336279.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2259,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2786,
"cdna_end": null,
"cdna_length": 4413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.2259G>C",
"hgvs_p": "p.Val753Val",
"transcript": "NM_001349351.2",
"protein_id": "NP_001336280.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2259,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2795,
"cdna_end": null,
"cdna_length": 4422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.2259G>C",
"hgvs_p": "p.Val753Val",
"transcript": "NM_001349352.2",
"protein_id": "NP_001336281.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2259,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2545,
"cdna_end": null,
"cdna_length": 4172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.2259G>C",
"hgvs_p": "p.Val753Val",
"transcript": "NM_001349353.2",
"protein_id": "NP_001336282.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2259,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2549,
"cdna_end": null,
"cdna_length": 4176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.2259G>C",
"hgvs_p": "p.Val753Val",
"transcript": "NM_001349354.2",
"protein_id": "NP_001336283.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2259,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2558,
"cdna_end": null,
"cdna_length": 4185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.2259G>C",
"hgvs_p": "p.Val753Val",
"transcript": "NM_001349355.2",
"protein_id": "NP_001336284.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2259,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2607,
"cdna_end": null,
"cdna_length": 4234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.2259G>C",
"hgvs_p": "p.Val753Val",
"transcript": "NM_014461.4",
"protein_id": "NP_055276.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2259,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 2447,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.2151G>C",
"hgvs_p": "p.Val717Val",
"transcript": "NM_001349356.2",
"protein_id": "NP_001336285.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 992,
"cds_start": 2151,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 2330,
"cdna_end": null,
"cdna_length": 3957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.2043G>C",
"hgvs_p": "p.Val681Val",
"transcript": "NM_001289081.2",
"protein_id": "NP_001276010.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 956,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 2301,
"cdna_end": null,
"cdna_length": 3928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.1947G>C",
"hgvs_p": "p.Val649Val",
"transcript": "NM_001349357.2",
"protein_id": "NP_001336286.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 924,
"cds_start": 1947,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.1704G>C",
"hgvs_p": "p.Val568Val",
"transcript": "NM_001349358.2",
"protein_id": "NP_001336287.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 1704,
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"cdna_start": 2289,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.1137G>C",
"hgvs_p": "p.Val379Val",
"transcript": "NM_001349359.2",
"protein_id": "NP_001336288.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 654,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 2116,
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"cdna_length": 3743,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.1137G>C",
"hgvs_p": "p.Val379Val",
"transcript": "NM_001349360.2",
"protein_id": "NP_001336289.1",
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"aa_start": 379,
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"cdna_start": 2131,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.1137G>C",
"hgvs_p": "p.Val379Val",
"transcript": "NM_001349361.2",
"protein_id": "NP_001336290.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 654,
"cds_start": 1137,
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"cdna_start": 2553,
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"cdna_length": 4180,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.1137G>C",
"hgvs_p": "p.Val379Val",
"transcript": "NM_001349362.2",
"protein_id": "NP_001336291.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 654,
"cds_start": 1137,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 2344,
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"cdna_length": 3971,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.2259G>C",
"hgvs_p": "p.Val753Val",
"transcript": "XM_011533590.3",
"protein_id": "XP_011531892.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
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"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.2259G>C",
"hgvs_p": "p.Val753Val",
"transcript": "XM_017006172.3",
"protein_id": "XP_016861661.1",
"transcript_support_level": null,
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"aa_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.2259G>C",
"hgvs_p": "p.Val753Val",
"transcript": "XM_047447972.1",
"protein_id": "XP_047303928.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2259,
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"cdna_start": 2951,
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"cdna_length": 4578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.2043G>C",
"hgvs_p": "p.Val681Val",
"transcript": "XM_011533591.4",
"protein_id": "XP_011531893.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 956,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 2777,
"cdna_end": null,
"cdna_length": 4404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNTN6",
"gene_hgnc_id": 2176,
"hgvs_c": "c.2043G>C",
"hgvs_p": "p.Val681Val",
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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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"exon_count": 22,
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"gene_symbol": "CNTN6",
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"transcript": "ENST00000397479.6",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "CNTN6",
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"hgvs_c": "n.*2397G>C",
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"transcript": "ENST00000397479.6",
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}
],
"gene_symbol": "CNTN6",
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"dbsnp": "rs2291101",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.269,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000446702.7",
"gene_symbol": "CNTN6",
"hgnc_id": 2176,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.2259G>C",
"hgvs_p": "p.Val753Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}