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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: 22-35746518-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=35746518&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 35746518,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001082578.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Thr394Ile",
"transcript": "NM_001349999.2",
"protein_id": "NP_001336928.2",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 447,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000695854.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349999.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Thr394Ile",
"transcript": "ENST00000695854.1",
"protein_id": "ENSP00000512219.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 447,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001349999.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695854.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1193C>T",
"hgvs_p": "p.Thr398Ile",
"transcript": "ENST00000438146.7",
"protein_id": "ENSP00000413035.2",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 451,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438146.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.980C>T",
"hgvs_p": "p.Thr327Ile",
"transcript": "ENST00000449924.6",
"protein_id": "ENSP00000391670.2",
"transcript_support_level": 1,
"aa_start": 327,
"aa_end": null,
"aa_length": 380,
"cds_start": 980,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449924.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Thr323Ile",
"transcript": "ENST00000416721.6",
"protein_id": "ENSP00000405651.2",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 376,
"cds_start": 968,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416721.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.940C>T",
"hgvs_p": "p.Pro314Ser",
"transcript": "ENST00000359369.8",
"protein_id": "ENSP00000352328.4",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 370,
"cds_start": 940,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359369.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.940C>T",
"hgvs_p": "p.Pro314Ser",
"transcript": "ENST00000414461.6",
"protein_id": "ENSP00000407855.2",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 370,
"cds_start": 940,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414461.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Pro311Ser",
"transcript": "ENST00000405409.6",
"protein_id": "ENSP00000384944.2",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 367,
"cds_start": 931,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405409.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.914C>T",
"hgvs_p": "p.Thr305Ile",
"transcript": "ENST00000262829.11",
"protein_id": "ENSP00000262829.7",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 358,
"cds_start": 914,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "n.*474C>T",
"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": null,
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "n.*4164C>T",
"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": null,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "n.*474C>T",
"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": null,
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "n.*4164C>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695807.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1310C>T",
"hgvs_p": "p.Thr437Ile",
"transcript": "ENST00000921516.1",
"protein_id": "ENSP00000591575.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 490,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921516.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1301C>T",
"hgvs_p": "p.Thr434Ile",
"transcript": "ENST00000921518.1",
"protein_id": "ENSP00000591577.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 487,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921518.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1298C>T",
"hgvs_p": "p.Thr433Ile",
"transcript": "ENST00000921515.1",
"protein_id": "ENSP00000591574.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 486,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921515.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1199C>T",
"hgvs_p": "p.Thr400Ile",
"transcript": "ENST00000908673.1",
"protein_id": "ENSP00000578732.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 453,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908673.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1196C>T",
"hgvs_p": "p.Thr399Ile",
"transcript": "ENST00000908672.1",
"protein_id": "ENSP00000578731.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 452,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908672.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1193C>T",
"hgvs_p": "p.Thr398Ile",
"transcript": "NM_001082578.4",
"protein_id": "NP_001076047.2",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 451,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001082578.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Thr397Ile",
"transcript": "NM_001082579.3",
"protein_id": "NP_001076048.2",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 450,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001082579.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Thr397Ile",
"transcript": "ENST00000908669.1",
"protein_id": "ENSP00000578728.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 450,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908669.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.1178C>T",
"hgvs_p": "p.Thr393Ile",
"transcript": "NM_001394112.1",
"protein_id": "NP_001381041.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 446,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1341,
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"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "n.2115C>T",
"hgvs_p": null,
"transcript": "ENST00000463509.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000463509.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "n.*521C>T",
"hgvs_p": null,
"transcript": "ENST00000695806.1",
"protein_id": "ENSP00000512186.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695806.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "n.*521C>T",
"hgvs_p": null,
"transcript": "ENST00000695806.1",
"protein_id": "ENSP00000512186.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000695806.1"
}
],
"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": 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": 0.19955143332481384,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.321,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0686,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.55,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001082578.4",
"gene_symbol": "RBFOX2",
"hgnc_id": 9906,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1193C>T",
"hgvs_p": "p.Thr398Ile"
}
],
"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
}