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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: 11-9832230-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=9832230&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 9832230,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000256190.13",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3646C>G",
"hgvs_p": "p.Gln1216Glu",
"transcript": "NM_030962.4",
"protein_id": "NP_112224.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1849,
"cds_start": 3646,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 3796,
"cdna_end": null,
"cdna_length": 7450,
"mane_select": "ENST00000256190.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3646C>G",
"hgvs_p": "p.Gln1216Glu",
"transcript": "ENST00000256190.13",
"protein_id": "ENSP00000256190.8",
"transcript_support_level": 1,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1849,
"cds_start": 3646,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 3796,
"cdna_end": null,
"cdna_length": 7450,
"mane_select": "NM_030962.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3646C>G",
"hgvs_p": "p.Gln1216Glu",
"transcript": "NM_001386339.1",
"protein_id": "NP_001373268.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1881,
"cds_start": 3646,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 3796,
"cdna_end": null,
"cdna_length": 7546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3646C>G",
"hgvs_p": "p.Gln1216Glu",
"transcript": "ENST00000689128.1",
"protein_id": "ENSP00000509587.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1881,
"cds_start": 3646,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 3705,
"cdna_end": null,
"cdna_length": 7279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3646C>G",
"hgvs_p": "p.Gln1216Glu",
"transcript": "ENST00000675281.2",
"protein_id": "ENSP00000502491.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1874,
"cds_start": 3646,
"cds_end": null,
"cds_length": 5625,
"cdna_start": 3796,
"cdna_end": null,
"cdna_length": 7347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3532C>G",
"hgvs_p": "p.Gln1178Glu",
"transcript": "ENST00000676387.2",
"protein_id": "ENSP00000502779.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1868,
"cds_start": 3532,
"cds_end": null,
"cds_length": 5607,
"cdna_start": 3670,
"cdna_end": null,
"cdna_length": 7167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3682C>G",
"hgvs_p": "p.Gln1228Glu",
"transcript": "NM_001424318.1",
"protein_id": "NP_001411247.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1861,
"cds_start": 3682,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 4226,
"cdna_end": null,
"cdna_length": 7880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3682C>G",
"hgvs_p": "p.Gln1228Glu",
"transcript": "NM_001425070.1",
"protein_id": "NP_001411999.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1861,
"cds_start": 3682,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 4026,
"cdna_end": null,
"cdna_length": 7680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3640C>G",
"hgvs_p": "p.Gln1214Glu",
"transcript": "ENST00000689940.1",
"protein_id": "ENSP00000508452.1",
"transcript_support_level": null,
"aa_start": 1214,
"aa_end": null,
"aa_length": 1847,
"cds_start": 3640,
"cds_end": null,
"cds_length": 5544,
"cdna_start": 3798,
"cdna_end": null,
"cdna_length": 7452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3508C>G",
"hgvs_p": "p.Gln1170Glu",
"transcript": "ENST00000689258.1",
"protein_id": "ENSP00000510475.1",
"transcript_support_level": null,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1828,
"cds_start": 3508,
"cds_end": null,
"cds_length": 5487,
"cdna_start": 3649,
"cdna_end": null,
"cdna_length": 6667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3682C>G",
"hgvs_p": "p.Gln1228Glu",
"transcript": "NM_001425069.1",
"protein_id": "NP_001411998.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1814,
"cds_start": 3682,
"cds_end": null,
"cds_length": 5445,
"cdna_start": 4026,
"cdna_end": null,
"cdna_length": 7539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3517C>G",
"hgvs_p": "p.Gln1173Glu",
"transcript": "NM_001386342.1",
"protein_id": "NP_001373271.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1806,
"cds_start": 3517,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 3667,
"cdna_end": null,
"cdna_length": 7321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3517C>G",
"hgvs_p": "p.Gln1173Glu",
"transcript": "ENST00000692716.1",
"protein_id": "ENSP00000509545.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1806,
"cds_start": 3517,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 3669,
"cdna_end": null,
"cdna_length": 9215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3253C>G",
"hgvs_p": "p.Gln1085Glu",
"transcript": "ENST00000688344.1",
"protein_id": "ENSP00000509987.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1718,
"cds_start": 3253,
"cds_end": null,
"cds_length": 5157,
"cdna_start": 3253,
"cdna_end": null,
"cdna_length": 6763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.2350C>G",
"hgvs_p": "p.Gln784Glu",
"transcript": "ENST00000689597.1",
"protein_id": "ENSP00000510781.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1312,
"cds_start": 2350,
"cds_end": null,
"cds_length": 3939,
"cdna_start": 2350,
"cdna_end": null,
"cdna_length": 4133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.2350C>G",
"hgvs_p": "p.Gln784Glu",
"transcript": "ENST00000530741.2",
"protein_id": "ENSP00000432643.2",
"transcript_support_level": 5,
"aa_start": 784,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2350,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 2350,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3646C>G",
"hgvs_p": "p.Gln1216Glu",
"transcript": "XM_047427657.1",
"protein_id": "XP_047283613.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1554,
"cds_start": 3646,
"cds_end": null,
"cds_length": 4665,
"cdna_start": 3796,
"cdna_end": null,
"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3646C>G",
"hgvs_p": "p.Gln1216Glu",
"transcript": "XM_011520395.4",
"protein_id": "XP_011518697.1",
"transcript_support_level": null,
"aa_start": 1216,
"aa_end": null,
"aa_length": 1267,
"cds_start": 3646,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 3796,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "n.3646C>G",
"hgvs_p": null,
"transcript": "ENST00000676324.2",
"protein_id": "ENSP00000502578.1",
"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": 7085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "n.817C>G",
"hgvs_p": null,
"transcript": "ENST00000689356.1",
"protein_id": null,
"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": 4194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "n.*518C>G",
"hgvs_p": null,
"transcript": "ENST00000689674.1",
"protein_id": "ENSP00000510723.1",
"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": 2546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "n.*423C>G",
"hgvs_p": null,
"transcript": "ENST00000690003.1",
"protein_id": "ENSP00000508748.1",
"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": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "n.*291C>G",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
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"exon_count": 15,
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},
{
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"strand": false,
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"3_prime_UTR_variant"
],
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"exon_count": 15,
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"gene_symbol": "SBF2",
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"hgvs_c": "n.*423C>G",
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"transcript": "ENST00000690003.1",
"protein_id": "ENSP00000508748.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 16,
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"gene_symbol": "SBF2",
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"transcript": "ENST00000693181.1",
"protein_id": "ENSP00000510179.1",
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"cds_end": null,
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"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"dbsnp": "rs12574508",
"frequency_reference_population": 0.104279116,
"hom_count_reference_population": 9267,
"allele_count_reference_population": 168192,
"gnomad_exomes_af": 0.106641,
"gnomad_genomes_af": 0.0816213,
"gnomad_exomes_ac": 155765,
"gnomad_genomes_ac": 12427,
"gnomad_exomes_homalt": 8670,
"gnomad_genomes_homalt": 597,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0014258623123168945,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.266,
"revel_prediction": "Benign",
"alphamissense_score": 0.1151,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.664,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000256190.13",
"gene_symbol": "SBF2",
"hgnc_id": 2135,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3646C>G",
"hgvs_p": "p.Gln1216Glu"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease type 4,Charcot-Marie-Tooth disease type 4B2,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4B2|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}