← Back to variant description
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: 17-78102100-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78102100&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78102100,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000696270.1",
"consequences": [
{
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.5240-374A>G",
"hgvs_p": null,
"transcript": "NM_001142640.2",
"protein_id": "NP_001136112.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1936,
"cds_start": -4,
"cds_end": null,
"cds_length": 5811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10391,
"mane_select": "ENST00000696270.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.5240-374A>G",
"hgvs_p": null,
"transcript": "ENST00000696270.1",
"protein_id": "ENSP00000512514.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1936,
"cds_start": -4,
"cds_end": null,
"cds_length": 5811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10391,
"mane_select": "NM_001142640.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.5264-374A>G",
"hgvs_p": null,
"transcript": "ENST00000636222.1",
"protein_id": "ENSP00000489933.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1944,
"cds_start": -4,
"cds_end": null,
"cds_length": 5835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.5147-374A>G",
"hgvs_p": null,
"transcript": "NM_001395509.1",
"protein_id": "NP_001382438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1905,
"cds_start": -4,
"cds_end": null,
"cds_length": 5718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.5123-374A>G",
"hgvs_p": null,
"transcript": "NM_001395510.1",
"protein_id": "NP_001382439.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1897,
"cds_start": -4,
"cds_end": null,
"cds_length": 5694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.5123-374A>G",
"hgvs_p": null,
"transcript": "ENST00000696541.1",
"protein_id": "ENSP00000512702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1897,
"cds_start": -4,
"cds_end": null,
"cds_length": 5694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.4652-374A>G",
"hgvs_p": null,
"transcript": "ENST00000588061.6",
"protein_id": "ENSP00000468647.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1740,
"cds_start": -4,
"cds_end": null,
"cds_length": 5223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.4634-374A>G",
"hgvs_p": null,
"transcript": "NM_001395511.1",
"protein_id": "NP_001382440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1734,
"cds_start": -4,
"cds_end": null,
"cds_length": 5205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.4610-374A>G",
"hgvs_p": null,
"transcript": "NM_001395508.1",
"protein_id": "NP_001382437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1726,
"cds_start": -4,
"cds_end": null,
"cds_length": 5181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.4502-374A>G",
"hgvs_p": null,
"transcript": "NM_018996.3",
"protein_id": "NP_061869.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1690,
"cds_start": -4,
"cds_end": null,
"cds_length": 5073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.4493-374A>G",
"hgvs_p": null,
"transcript": "NM_001395512.1",
"protein_id": "NP_001382441.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1687,
"cds_start": -4,
"cds_end": null,
"cds_length": 5064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "n.197-374A>G",
"hgvs_p": null,
"transcript": "ENST00000592566.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.5309-374A>G",
"hgvs_p": null,
"transcript": "XM_047436485.1",
"protein_id": "XP_047292441.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1959,
"cds_start": -4,
"cds_end": null,
"cds_length": 5880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.5300-374A>G",
"hgvs_p": null,
"transcript": "XM_047436486.1",
"protein_id": "XP_047292442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1956,
"cds_start": -4,
"cds_end": null,
"cds_length": 5871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.5249-374A>G",
"hgvs_p": null,
"transcript": "XM_006721996.5",
"protein_id": "XP_006722059.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1939,
"cds_start": -4,
"cds_end": null,
"cds_length": 5820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.5159-374A>G",
"hgvs_p": null,
"transcript": "XM_047436487.1",
"protein_id": "XP_047292443.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1909,
"cds_start": -4,
"cds_end": null,
"cds_length": 5730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.5150-374A>G",
"hgvs_p": null,
"transcript": "XM_047436488.1",
"protein_id": "XP_047292444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1906,
"cds_start": -4,
"cds_end": null,
"cds_length": 5721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.5099-374A>G",
"hgvs_p": null,
"transcript": "XM_006721997.5",
"protein_id": "XP_006722060.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1889,
"cds_start": -4,
"cds_end": null,
"cds_length": 5670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.5090-374A>G",
"hgvs_p": null,
"transcript": "XM_047436489.1",
"protein_id": "XP_047292445.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1886,
"cds_start": -4,
"cds_end": null,
"cds_length": 5661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.4982-374A>G",
"hgvs_p": null,
"transcript": "XM_047436490.1",
"protein_id": "XP_047292446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1850,
"cds_start": -4,
"cds_end": null,
"cds_length": 5553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.4973-374A>G",
"hgvs_p": null,
"transcript": "XM_047436491.1",
"protein_id": "XP_047292447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1847,
"cds_start": -4,
"cds_end": null,
"cds_length": 5544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.4952-374A>G",
"hgvs_p": null,
"transcript": "XM_047436492.1",
"protein_id": "XP_047292448.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1840,
"cds_start": -4,
"cds_end": null,
"cds_length": 5523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.4943-374A>G",
"hgvs_p": null,
"transcript": "XM_047436493.1",
"protein_id": "XP_047292449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1837,
"cds_start": -4,
"cds_end": null,
"cds_length": 5514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.4835-374A>G",
"hgvs_p": null,
"transcript": "XM_047436494.1",
"protein_id": "XP_047292450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1801,
"cds_start": -4,
"cds_end": null,
"cds_length": 5406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.4826-374A>G",
"hgvs_p": null,
"transcript": "XM_047436495.1",
"protein_id": "XP_047292451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1798,
"cds_start": -4,
"cds_end": null,
"cds_length": 5397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"hgvs_c": "c.4679-374A>G",
"hgvs_p": null,
"transcript": "XM_047436496.1",
"protein_id": "XP_047292452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1749,
"cds_start": -4,
"cds_end": null,
"cds_length": 5250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TNRC6C",
"gene_hgnc_id": 29318,
"dbsnp": "rs16970829",
"frequency_reference_population": 0.115056634,
"hom_count_reference_population": 1236,
"allele_count_reference_population": 17513,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.115057,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 17513,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1236,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.124,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000696270.1",
"gene_symbol": "TNRC6C",
"hgnc_id": 29318,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5240-374A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}