← Back to variant description
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: 11-10000943-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=10000943&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 10000943,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000256190.13",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Ser278Pro",
"transcript": "NM_030962.4",
"protein_id": "NP_112224.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 1849,
"cds_start": 832,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 7450,
"mane_select": "ENST00000256190.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Ser278Pro",
"transcript": "ENST00000256190.13",
"protein_id": "ENSP00000256190.8",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 1849,
"cds_start": 832,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 7450,
"mane_select": "NM_030962.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Ser278Pro",
"transcript": "ENST00000533770.6",
"protein_id": "ENSP00000509247.1",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 1152,
"cds_start": 832,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 4914,
"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": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "n.982T>C",
"hgvs_p": null,
"transcript": "ENST00000526353.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 7399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Ser278Pro",
"transcript": "NM_001386339.1",
"protein_id": "NP_001373268.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 1881,
"cds_start": 832,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 7546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Ser278Pro",
"transcript": "ENST00000689128.1",
"protein_id": "ENSP00000509587.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 1881,
"cds_start": 832,
"cds_end": null,
"cds_length": 5646,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 7279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Ser278Pro",
"transcript": "ENST00000675281.2",
"protein_id": "ENSP00000502491.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 1874,
"cds_start": 832,
"cds_end": null,
"cds_length": 5625,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 7347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Ser278Pro",
"transcript": "ENST00000676387.2",
"protein_id": "ENSP00000502779.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 1868,
"cds_start": 832,
"cds_end": null,
"cds_length": 5607,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 7167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.868T>C",
"hgvs_p": "p.Ser290Pro",
"transcript": "NM_001424318.1",
"protein_id": "NP_001411247.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 1861,
"cds_start": 868,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 7880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.868T>C",
"hgvs_p": "p.Ser290Pro",
"transcript": "NM_001425070.1",
"protein_id": "NP_001411999.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 1861,
"cds_start": 868,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 7680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Ser278Pro",
"transcript": "ENST00000689940.1",
"protein_id": "ENSP00000508452.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 1847,
"cds_start": 832,
"cds_end": null,
"cds_length": 5544,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 7452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.694T>C",
"hgvs_p": "p.Ser232Pro",
"transcript": "ENST00000689258.1",
"protein_id": "ENSP00000510475.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 1828,
"cds_start": 694,
"cds_end": null,
"cds_length": 5487,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 6667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.868T>C",
"hgvs_p": "p.Ser290Pro",
"transcript": "NM_001425069.1",
"protein_id": "NP_001411998.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 1814,
"cds_start": 868,
"cds_end": null,
"cds_length": 5445,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 7539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Ser278Pro",
"transcript": "NM_001386342.1",
"protein_id": "NP_001373271.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 1806,
"cds_start": 832,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 7321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Ser278Pro",
"transcript": "ENST00000692716.1",
"protein_id": "ENSP00000509545.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 1806,
"cds_start": 832,
"cds_end": null,
"cds_length": 5421,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 9215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.553T>C",
"hgvs_p": "p.Ser185Pro",
"transcript": "ENST00000688344.1",
"protein_id": "ENSP00000509987.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 1718,
"cds_start": 553,
"cds_end": null,
"cds_length": 5157,
"cdna_start": 553,
"cdna_end": null,
"cdna_length": 6763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Ser278Pro",
"transcript": "XM_047427657.1",
"protein_id": "XP_047283613.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 1554,
"cds_start": 832,
"cds_end": null,
"cds_length": 4665,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 4925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Ser278Pro",
"transcript": "XM_011520395.4",
"protein_id": "XP_011518697.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 1267,
"cds_start": 832,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Ser278Pro",
"transcript": "XM_011520396.4",
"protein_id": "XP_011518698.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 1159,
"cds_start": 832,
"cds_end": null,
"cds_length": 3480,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 5964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Ser278Pro",
"transcript": "XM_047427658.1",
"protein_id": "XP_047283614.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 1116,
"cds_start": 832,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Ser278Pro",
"transcript": "XM_017018377.3",
"protein_id": "XP_016873866.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 1105,
"cds_start": 832,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 3534,
"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": 8,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "n.832T>C",
"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": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "n.832T>C",
"hgvs_p": null,
"transcript": "ENST00000687210.1",
"protein_id": "ENSP00000509480.1",
"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": 2448,
"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": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "n.982T>C",
"hgvs_p": null,
"transcript": "ENST00000688417.1",
"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": 3171,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "n.832T>C",
"hgvs_p": null,
"transcript": "ENST00000693022.1",
"protein_id": "ENSP00000508914.1",
"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": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"dbsnp": "rs746749228",
"frequency_reference_population": 0.0000024996718,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000207181,
"gnomad_genomes_af": 0.0000065703,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9634783864021301,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.666,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8615,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.915,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000256190.13",
"gene_symbol": "SBF2",
"hgnc_id": 2135,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Ser278Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}