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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: 5-157285409-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=157285409&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 157285409,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001291722.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "NM_001037333.3",
"protein_id": "NP_001032410.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1253,
"cds_start": 48,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 144,
"cdna_end": null,
"cdna_length": 6452,
"mane_select": "ENST00000620254.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037333.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "ENST00000620254.5",
"protein_id": "ENSP00000479968.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 1253,
"cds_start": 48,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 144,
"cdna_end": null,
"cdna_length": 6452,
"mane_select": "NM_001037333.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620254.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "ENST00000616178.4",
"protein_id": "ENSP00000479719.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 1278,
"cds_start": 48,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 4210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616178.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "ENST00000618329.4",
"protein_id": "ENSP00000484819.1",
"transcript_support_level": 1,
"aa_start": 16,
"aa_end": null,
"aa_length": 1253,
"cds_start": 48,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 4256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618329.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "ENST00000698888.1",
"protein_id": "ENSP00000514007.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1300,
"cds_start": 48,
"cds_end": null,
"cds_length": 3903,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698888.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "NM_001291722.2",
"protein_id": "NP_001278651.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1278,
"cds_start": 48,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 144,
"cdna_end": null,
"cdna_length": 6527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291722.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "ENST00000883380.1",
"protein_id": "ENSP00000553439.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1277,
"cds_start": 48,
"cds_end": null,
"cds_length": 3834,
"cdna_start": 144,
"cdna_end": null,
"cdna_length": 4154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883380.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "ENST00000954621.1",
"protein_id": "ENSP00000624680.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1275,
"cds_start": 48,
"cds_end": null,
"cds_length": 3828,
"cdna_start": 144,
"cdna_end": null,
"cdna_length": 4148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954621.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "ENST00000954624.1",
"protein_id": "ENSP00000624683.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1271,
"cds_start": 48,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 4443,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954624.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "ENST00000883376.1",
"protein_id": "ENSP00000553435.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1266,
"cds_start": 48,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 168,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883376.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "NM_014376.4",
"protein_id": "NP_055191.2",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1253,
"cds_start": 48,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 331,
"cdna_end": null,
"cdna_length": 6639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014376.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "ENST00000883373.1",
"protein_id": "ENSP00000553432.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1253,
"cds_start": 48,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 4786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883373.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "ENST00000883377.1",
"protein_id": "ENSP00000553436.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1253,
"cds_start": 48,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883377.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "ENST00000883381.1",
"protein_id": "ENSP00000553440.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1253,
"cds_start": 48,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 4454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883381.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "ENST00000883384.1",
"protein_id": "ENSP00000553443.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1253,
"cds_start": 48,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 4543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883384.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "ENST00000883388.1",
"protein_id": "ENSP00000553447.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1253,
"cds_start": 48,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 4202,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883388.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "ENST00000883389.1",
"protein_id": "ENSP00000553448.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1253,
"cds_start": 48,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 4615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883389.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "ENST00000883390.1",
"protein_id": "ENSP00000553449.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1253,
"cds_start": 48,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 4278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883390.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "ENST00000954623.1",
"protein_id": "ENSP00000624682.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1253,
"cds_start": 48,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954623.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "ENST00000954625.1",
"protein_id": "ENSP00000624684.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1253,
"cds_start": 48,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954625.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "ENST00000883375.1",
"protein_id": "ENSP00000553434.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1252,
"cds_start": 48,
"cds_end": null,
"cds_length": 3759,
"cdna_start": 172,
"cdna_end": null,
"cdna_length": 4107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883375.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu",
"transcript": "ENST00000883383.1",
"protein_id": "ENSP00000553442.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 1252,
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"hgvs_p": null,
"transcript": "ENST00000522637.5",
"protein_id": "ENSP00000428079.1",
"transcript_support_level": 4,
"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": 580,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000522637.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "n.48G>C",
"hgvs_p": null,
"transcript": "ENST00000621516.1",
"protein_id": "ENSP00000479211.1",
"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,
"cdna_length": 915,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000621516.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"hgvs_c": "n.131G>C",
"hgvs_p": null,
"transcript": "ENST00000622696.4",
"protein_id": null,
"transcript_support_level": 2,
"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": 1294,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000622696.4"
}
],
"gene_symbol": "CYFIP2",
"gene_hgnc_id": 13760,
"dbsnp": "rs755029730",
"frequency_reference_population": 0.000030367331,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000308018,
"gnomad_genomes_af": 0.0000262881,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3499999940395355,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.731,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001291722.2",
"gene_symbol": "CYFIP2",
"hgnc_id": 13760,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.48G>C",
"hgvs_p": "p.Leu16Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}