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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: 22-35746517-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=35746517&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 35746517,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001394114.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"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.941C>T",
"hgvs_p": "p.Pro314Leu",
"transcript": "ENST00000359369.8",
"protein_id": "ENSP00000352328.4",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 370,
"cds_start": 941,
"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": "L",
"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.941C>T",
"hgvs_p": "p.Pro314Leu",
"transcript": "ENST00000414461.6",
"protein_id": "ENSP00000407855.2",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 370,
"cds_start": 941,
"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": "L",
"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.932C>T",
"hgvs_p": "p.Pro311Leu",
"transcript": "ENST00000405409.6",
"protein_id": "ENSP00000384944.2",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 367,
"cds_start": 932,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1182C>T",
"hgvs_p": "p.Thr394Thr",
"transcript": "NM_001349999.2",
"protein_id": "NP_001336928.2",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 447,
"cds_start": 1182,
"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": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1182C>T",
"hgvs_p": "p.Thr394Thr",
"transcript": "ENST00000695854.1",
"protein_id": "ENSP00000512219.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 447,
"cds_start": 1182,
"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": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1194C>T",
"hgvs_p": "p.Thr398Thr",
"transcript": "ENST00000438146.7",
"protein_id": "ENSP00000413035.2",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 451,
"cds_start": 1194,
"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": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.981C>T",
"hgvs_p": "p.Thr327Thr",
"transcript": "ENST00000449924.6",
"protein_id": "ENSP00000391670.2",
"transcript_support_level": 1,
"aa_start": 327,
"aa_end": null,
"aa_length": 380,
"cds_start": 981,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.969C>T",
"hgvs_p": "p.Thr323Thr",
"transcript": "ENST00000416721.6",
"protein_id": "ENSP00000405651.2",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 376,
"cds_start": 969,
"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": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.915C>T",
"hgvs_p": "p.Thr305Thr",
"transcript": "ENST00000262829.11",
"protein_id": "ENSP00000262829.7",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 358,
"cds_start": 915,
"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.*475C>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.*4165C>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.*475C>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.*4165C>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": "P",
"aa_alt": "L",
"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.1142C>T",
"hgvs_p": "p.Pro381Leu",
"transcript": "NM_001394114.1",
"protein_id": "NP_001381043.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 437,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394114.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.1139C>T",
"hgvs_p": "p.Pro380Leu",
"transcript": "NM_001394115.1",
"protein_id": "NP_001381044.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 436,
"cds_start": 1139,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394115.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.1079C>T",
"hgvs_p": "p.Pro360Leu",
"transcript": "NM_001349991.2",
"protein_id": "NP_001336920.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 416,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349991.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.1067C>T",
"hgvs_p": "p.Pro356Leu",
"transcript": "NM_001349982.2",
"protein_id": "NP_001336911.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 412,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349982.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.1049C>T",
"hgvs_p": "p.Pro350Leu",
"transcript": "ENST00000695804.1",
"protein_id": "ENSP00000512184.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 406,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695804.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.1046C>T",
"hgvs_p": "p.Pro349Leu",
"transcript": "NM_001394111.1",
"protein_id": "NP_001381040.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 405,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394111.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.1013C>T",
"hgvs_p": "p.Pro338Leu",
"transcript": "NM_001349998.2",
"protein_id": "NP_001336927.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 394,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349998.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.1007C>T",
"hgvs_p": "p.Pro336Leu",
"transcript": "NM_001349992.2",
"protein_id": "NP_001336921.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 392,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349992.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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.1001C>T",
"hgvs_p": "p.Pro334Leu",
"transcript": "NM_001349983.2",
"protein_id": "NP_001336912.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 390,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "RBFOX2",
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"hgvs_c": "n.2116C>T",
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"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.*522C>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.*522C>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": "rs949919887",
"frequency_reference_population": 0.00001645971,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000164597,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11935746669769287,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.178,
"revel_prediction": "Benign",
"alphamissense_score": 0.091,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.952,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001394114.1",
"gene_symbol": "RBFOX2",
"hgnc_id": 9906,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1142C>T",
"hgvs_p": "p.Pro381Leu"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}