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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: 11-9816887-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=9816887&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 9816887,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001386339.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3931A>G",
"hgvs_p": "p.Lys1311Glu",
"transcript": "NM_030962.4",
"protein_id": "NP_112224.1",
"transcript_support_level": null,
"aa_start": 1311,
"aa_end": null,
"aa_length": 1849,
"cds_start": 3931,
"cds_end": null,
"cds_length": 5550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000256190.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030962.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3931A>G",
"hgvs_p": "p.Lys1311Glu",
"transcript": "ENST00000256190.13",
"protein_id": "ENSP00000256190.8",
"transcript_support_level": 1,
"aa_start": 1311,
"aa_end": null,
"aa_length": 1849,
"cds_start": 3931,
"cds_end": null,
"cds_length": 5550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030962.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256190.13"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.4027A>G",
"hgvs_p": "p.Lys1343Glu",
"transcript": "NM_001386339.1",
"protein_id": "NP_001373268.1",
"transcript_support_level": null,
"aa_start": 1343,
"aa_end": null,
"aa_length": 1881,
"cds_start": 4027,
"cds_end": null,
"cds_length": 5646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386339.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.4027A>G",
"hgvs_p": "p.Lys1343Glu",
"transcript": "ENST00000689128.1",
"protein_id": "ENSP00000509587.1",
"transcript_support_level": null,
"aa_start": 1343,
"aa_end": null,
"aa_length": 1881,
"cds_start": 4027,
"cds_end": null,
"cds_length": 5646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689128.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.4006A>G",
"hgvs_p": "p.Lys1336Glu",
"transcript": "ENST00000675281.2",
"protein_id": "ENSP00000502491.1",
"transcript_support_level": null,
"aa_start": 1336,
"aa_end": null,
"aa_length": 1874,
"cds_start": 4006,
"cds_end": null,
"cds_length": 5625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675281.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3988A>G",
"hgvs_p": "p.Lys1330Glu",
"transcript": "ENST00000676387.2",
"protein_id": "ENSP00000502779.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1868,
"cds_start": 3988,
"cds_end": null,
"cds_length": 5607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676387.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3967A>G",
"hgvs_p": "p.Lys1323Glu",
"transcript": "NM_001424318.1",
"protein_id": "NP_001411247.1",
"transcript_support_level": null,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1861,
"cds_start": 3967,
"cds_end": null,
"cds_length": 5586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424318.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3967A>G",
"hgvs_p": "p.Lys1323Glu",
"transcript": "NM_001425070.1",
"protein_id": "NP_001411999.1",
"transcript_support_level": null,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1861,
"cds_start": 3967,
"cds_end": null,
"cds_length": 5586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425070.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3925A>G",
"hgvs_p": "p.Lys1309Glu",
"transcript": "ENST00000689940.1",
"protein_id": "ENSP00000508452.1",
"transcript_support_level": null,
"aa_start": 1309,
"aa_end": null,
"aa_length": 1847,
"cds_start": 3925,
"cds_end": null,
"cds_length": 5544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689940.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3868A>G",
"hgvs_p": "p.Lys1290Glu",
"transcript": "ENST00000689258.1",
"protein_id": "ENSP00000510475.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 1828,
"cds_start": 3868,
"cds_end": null,
"cds_length": 5487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689258.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3826A>G",
"hgvs_p": "p.Lys1276Glu",
"transcript": "NM_001425069.1",
"protein_id": "NP_001411998.1",
"transcript_support_level": null,
"aa_start": 1276,
"aa_end": null,
"aa_length": 1814,
"cds_start": 3826,
"cds_end": null,
"cds_length": 5445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425069.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3802A>G",
"hgvs_p": "p.Lys1268Glu",
"transcript": "NM_001386342.1",
"protein_id": "NP_001373271.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1806,
"cds_start": 3802,
"cds_end": null,
"cds_length": 5421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386342.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3802A>G",
"hgvs_p": "p.Lys1268Glu",
"transcript": "ENST00000692716.1",
"protein_id": "ENSP00000509545.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1806,
"cds_start": 3802,
"cds_end": null,
"cds_length": 5421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692716.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3931A>G",
"hgvs_p": "p.Lys1311Glu",
"transcript": "ENST00000856971.1",
"protein_id": "ENSP00000527030.1",
"transcript_support_level": null,
"aa_start": 1311,
"aa_end": null,
"aa_length": 1755,
"cds_start": 3931,
"cds_end": null,
"cds_length": 5268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856971.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.3538A>G",
"hgvs_p": "p.Lys1180Glu",
"transcript": "ENST00000688344.1",
"protein_id": "ENSP00000509987.1",
"transcript_support_level": null,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1718,
"cds_start": 3538,
"cds_end": null,
"cds_length": 5157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688344.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.2635A>G",
"hgvs_p": "p.Lys879Glu",
"transcript": "ENST00000689597.1",
"protein_id": "ENSP00000510781.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1312,
"cds_start": 2635,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689597.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.2494A>G",
"hgvs_p": "p.Lys832Glu",
"transcript": "ENST00000530741.2",
"protein_id": "ENSP00000432643.2",
"transcript_support_level": 5,
"aa_start": 832,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2494,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530741.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "c.4027A>G",
"hgvs_p": "p.Lys1343Glu",
"transcript": "XM_047427657.1",
"protein_id": "XP_047283613.1",
"transcript_support_level": null,
"aa_start": 1343,
"aa_end": null,
"aa_length": 1554,
"cds_start": 4027,
"cds_end": null,
"cds_length": 4665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427657.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "n.415A>G",
"hgvs_p": null,
"transcript": "ENST00000524961.6",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000524961.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "n.467A>G",
"hgvs_p": null,
"transcript": "ENST00000532095.2",
"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": "ENST00000532095.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "n.451A>G",
"hgvs_p": null,
"transcript": "ENST00000533584.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000533584.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"hgvs_c": "n.*239A>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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"protein_coding": false,
"strand": false,
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{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 16,
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"biotype": "retained_intron",
"feature": "ENST00000689356.1"
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 11,
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"gene_symbol": "SBF2",
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"transcript": "ENST00000690944.1",
"protein_id": "ENSP00000508602.1",
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"feature": "ENST00000690944.1"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"gene_symbol": "SBF2",
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{
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"protein_coding": false,
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"gene_symbol": "SBF2",
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"hgvs_c": "n.850A>G",
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"transcript": "ENST00000693541.1",
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"feature": "ENST00000693541.1"
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
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"exon_count": 42,
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"gene_symbol": "SBF2",
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"hgvs_c": "n.*239A>G",
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"transcript": "ENST00000676324.2",
"protein_id": "ENSP00000502578.1",
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000676324.2"
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],
"gene_symbol": "SBF2",
"gene_hgnc_id": 2135,
"dbsnp": "rs200167746",
"frequency_reference_population": 0.00001982615,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000205215,
"gnomad_genomes_af": 0.0000131453,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5803412795066833,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.525,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4141,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.167,
"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_001386339.1",
"gene_symbol": "SBF2",
"hgnc_id": 2135,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4027A>G",
"hgvs_p": "p.Lys1343Glu"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 4,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Charcot-Marie-Tooth disease type 4|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}