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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: 22-35756109-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=35756109&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 35756109,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000438146.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1133T>C",
"hgvs_p": "p.Leu378Pro",
"transcript": "NM_001349999.2",
"protein_id": "NP_001336928.2",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 447,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 7212,
"mane_select": "ENST00000695854.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1133T>C",
"hgvs_p": "p.Leu378Pro",
"transcript": "ENST00000695854.1",
"protein_id": "ENSP00000512219.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 447,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 7212,
"mane_select": "NM_001349999.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Leu382Pro",
"transcript": "ENST00000438146.7",
"protein_id": "ENSP00000413035.2",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 451,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 7224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.932T>C",
"hgvs_p": "p.Leu311Pro",
"transcript": "ENST00000449924.6",
"protein_id": "ENSP00000391670.2",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 380,
"cds_start": 932,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1121,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.920T>C",
"hgvs_p": "p.Leu307Pro",
"transcript": "ENST00000416721.6",
"protein_id": "ENSP00000405651.2",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 376,
"cds_start": 920,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.860T>C",
"hgvs_p": "p.Leu287Pro",
"transcript": "ENST00000359369.8",
"protein_id": "ENSP00000352328.4",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 370,
"cds_start": 860,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.866T>C",
"hgvs_p": "p.Leu289Pro",
"transcript": "ENST00000262829.11",
"protein_id": "ENSP00000262829.7",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 358,
"cds_start": 866,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "n.*385T>C",
"hgvs_p": null,
"transcript": "ENST00000695807.1",
"protein_id": "ENSP00000512187.1",
"transcript_support_level": null,
"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": 4860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "n.*385T>C",
"hgvs_p": null,
"transcript": "ENST00000695807.1",
"protein_id": "ENSP00000512187.1",
"transcript_support_level": null,
"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": 4860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.896+3779T>C",
"hgvs_p": null,
"transcript": "ENST00000414461.6",
"protein_id": "ENSP00000407855.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 370,
"cds_start": -4,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.887+3779T>C",
"hgvs_p": null,
"transcript": "ENST00000405409.6",
"protein_id": "ENSP00000384944.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 367,
"cds_start": -4,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "n.*430+3779T>C",
"hgvs_p": null,
"transcript": "ENST00000695805.1",
"protein_id": "ENSP00000512185.1",
"transcript_support_level": null,
"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": 1521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Leu382Pro",
"transcript": "NM_001082578.4",
"protein_id": "NP_001076047.2",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 451,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 7224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1142T>C",
"hgvs_p": "p.Leu381Pro",
"transcript": "NM_001082579.3",
"protein_id": "NP_001076048.2",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 450,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 7221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1130T>C",
"hgvs_p": "p.Leu377Pro",
"transcript": "NM_001394112.1",
"protein_id": "NP_001381041.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 446,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 7209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1130T>C",
"hgvs_p": "p.Leu377Pro",
"transcript": "NM_001394113.1",
"protein_id": "NP_001381042.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 446,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 7209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1127T>C",
"hgvs_p": "p.Leu376Pro",
"transcript": "NM_001394108.1",
"protein_id": "NP_001381037.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 445,
"cds_start": 1127,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 7206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1043T>C",
"hgvs_p": "p.Leu348Pro",
"transcript": "ENST00000695803.1",
"protein_id": "ENSP00000512183.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 417,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 6909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.998T>C",
"hgvs_p": "p.Leu333Pro",
"transcript": "NM_001349991.2",
"protein_id": "NP_001336920.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 416,
"cds_start": 998,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 6736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1037T>C",
"hgvs_p": "p.Leu346Pro",
"transcript": "NM_001394109.1",
"protein_id": "NP_001381038.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 415,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 7116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1037T>C",
"hgvs_p": "p.Leu346Pro",
"transcript": "NM_001394110.1",
"protein_id": "NP_001381039.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 415,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 7116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.986T>C",
"hgvs_p": "p.Leu329Pro",
"transcript": "NM_001349982.2",
"protein_id": "NP_001336911.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 412,
"cds_start": 986,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 6724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.923T>C",
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},
{
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"canonical": false,
"protein_coding": true,
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"consequences": [
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],
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"feature": null
},
{
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"canonical": false,
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"strand": false,
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],
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"gene_symbol": "RBFOX2",
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"transcript": "XM_017028698.2",
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},
{
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"protein_coding": true,
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"consequences": [
"intron_variant"
],
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"gene_symbol": "RBFOX2",
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"transcript": "XM_047441259.1",
"protein_id": "XP_047297215.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "RBFOX2",
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"transcript": "XM_047441260.1",
"protein_id": "XP_047297216.1",
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"aa_end": null,
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"feature": null
}
],
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.551712691783905,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.467,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.035,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000438146.7",
"gene_symbol": "RBFOX2",
"hgnc_id": 9906,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1145T>C",
"hgvs_p": "p.Leu382Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}