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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: 22-35745947-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=35745947&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 35745947,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001394114.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1034C>A",
"hgvs_p": "p.Pro345Gln",
"transcript": "ENST00000359369.8",
"protein_id": "ENSP00000352328.4",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 370,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359369.8"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1034C>A",
"hgvs_p": "p.Pro345Gln",
"transcript": "ENST00000414461.6",
"protein_id": "ENSP00000407855.2",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 370,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414461.6"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1025C>A",
"hgvs_p": "p.Pro342Gln",
"transcript": "ENST00000405409.6",
"protein_id": "ENSP00000384944.2",
"transcript_support_level": 1,
"aa_start": 342,
"aa_end": null,
"aa_length": 367,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 6932,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405409.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1275C>A",
"hgvs_p": "p.Ala425Ala",
"transcript": "NM_001349999.2",
"protein_id": "NP_001336928.2",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 447,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 7212,
"mane_select": "ENST00000695854.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349999.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1275C>A",
"hgvs_p": "p.Ala425Ala",
"transcript": "ENST00000695854.1",
"protein_id": "ENSP00000512219.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 447,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 7212,
"mane_select": "NM_001349999.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695854.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1287C>A",
"hgvs_p": "p.Ala429Ala",
"transcript": "ENST00000438146.7",
"protein_id": "ENSP00000413035.2",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 451,
"cds_start": 1287,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 7224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438146.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1074C>A",
"hgvs_p": "p.Ala358Ala",
"transcript": "ENST00000449924.6",
"protein_id": "ENSP00000391670.2",
"transcript_support_level": 1,
"aa_start": 358,
"aa_end": null,
"aa_length": 380,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 1935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449924.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1062C>A",
"hgvs_p": "p.Ala354Ala",
"transcript": "ENST00000416721.6",
"protein_id": "ENSP00000405651.2",
"transcript_support_level": 1,
"aa_start": 354,
"aa_end": null,
"aa_length": 376,
"cds_start": 1062,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416721.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1008C>A",
"hgvs_p": "p.Ala336Ala",
"transcript": "ENST00000262829.11",
"protein_id": "ENSP00000262829.7",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 358,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 1197,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262829.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "n.*568C>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1521,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695805.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "n.*4258C>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4860,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695807.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "n.*568C>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1521,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695805.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "n.*4258C>A",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4860,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695807.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1235C>A",
"hgvs_p": "p.Pro412Gln",
"transcript": "NM_001394114.1",
"protein_id": "NP_001381043.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 437,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 7172,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394114.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1232C>A",
"hgvs_p": "p.Pro411Gln",
"transcript": "NM_001394115.1",
"protein_id": "NP_001381044.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 436,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 7169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394115.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1172C>A",
"hgvs_p": "p.Pro391Gln",
"transcript": "NM_001349991.2",
"protein_id": "NP_001336920.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 416,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 6736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349991.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1160C>A",
"hgvs_p": "p.Pro387Gln",
"transcript": "NM_001349982.2",
"protein_id": "NP_001336911.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 412,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 6724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349982.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1142C>A",
"hgvs_p": "p.Pro381Gln",
"transcript": "ENST00000695804.1",
"protein_id": "ENSP00000512184.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 406,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 1490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695804.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1139C>A",
"hgvs_p": "p.Pro380Gln",
"transcript": "NM_001394111.1",
"protein_id": "NP_001381040.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 405,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 7076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394111.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1106C>A",
"hgvs_p": "p.Pro369Gln",
"transcript": "NM_001349998.2",
"protein_id": "NP_001336927.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 394,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 6890,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349998.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1100C>A",
"hgvs_p": "p.Pro367Gln",
"transcript": "NM_001349992.2",
"protein_id": "NP_001336921.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 392,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1126,
"cdna_end": null,
"cdna_length": 6664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349992.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1094C>A",
"hgvs_p": "p.Pro365Gln",
"transcript": "NM_001349983.2",
"protein_id": "NP_001336912.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 390,
"cds_start": 1094,
"cds_end": null,
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
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"non_coding_transcript_exon_variant"
],
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"exon_count": 15,
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"gene_symbol": "RBFOX2",
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"transcript": "ENST00000695806.1",
"protein_id": "ENSP00000512186.1",
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"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1540,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695806.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
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"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
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"hgvs_c": "n.*615C>A",
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"transcript": "ENST00000695806.1",
"protein_id": "ENSP00000512186.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1540,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695806.1"
}
],
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"dbsnp": "rs367628350",
"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": 0.6467249393463135,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.117,
"revel_prediction": "Benign",
"alphamissense_score": 0.0887,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.302,
"phylop100way_prediction": "Uncertain_significance",
"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": "NM_001394114.1",
"gene_symbol": "RBFOX2",
"hgnc_id": 9906,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1235C>A",
"hgvs_p": "p.Pro412Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}