← 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: 22-21963982-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=21963982&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 21963982,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003935.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.His382Arg",
"transcript": "NM_001282112.2",
"protein_id": "NP_001269041.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 862,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357179.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282112.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.His382Arg",
"transcript": "ENST00000357179.10",
"protein_id": "ENSP00000349705.5",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 862,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001282112.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357179.10"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.His382Arg",
"transcript": "ENST00000398793.6",
"protein_id": "ENSP00000381773.2",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 862,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398793.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1F-AS1",
"gene_hgnc_id": 40888,
"hgvs_c": "n.24202T>C",
"hgvs_p": null,
"transcript": "ENST00000458178.2",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000458178.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.His395Arg",
"transcript": "ENST00000937943.1",
"protein_id": "ENSP00000608002.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 875,
"cds_start": 1184,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937943.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.His382Arg",
"transcript": "ENST00000937946.1",
"protein_id": "ENSP00000608005.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 872,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937946.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.His382Arg",
"transcript": "NM_001282113.2",
"protein_id": "NP_001269042.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 862,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282113.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.His382Arg",
"transcript": "NM_001349845.2",
"protein_id": "NP_001336774.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 862,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349845.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.His382Arg",
"transcript": "NM_001349847.2",
"protein_id": "NP_001336776.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 862,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349847.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.His382Arg",
"transcript": "NM_003935.5",
"protein_id": "NP_003926.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 862,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003935.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.His382Arg",
"transcript": "ENST00000868095.1",
"protein_id": "ENSP00000538154.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 862,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868095.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.His382Arg",
"transcript": "ENST00000937945.1",
"protein_id": "ENSP00000608004.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 862,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937945.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.His382Arg",
"transcript": "ENST00000968013.1",
"protein_id": "ENSP00000638072.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 862,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968013.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.His382Arg",
"transcript": "ENST00000968014.1",
"protein_id": "ENSP00000638073.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 862,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968014.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.His382Arg",
"transcript": "ENST00000968016.1",
"protein_id": "ENSP00000638075.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 862,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968016.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.His382Arg",
"transcript": "ENST00000937947.1",
"protein_id": "ENSP00000608006.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 846,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937947.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.His382Arg",
"transcript": "ENST00000968015.1",
"protein_id": "ENSP00000638074.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 846,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968015.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.His344Arg",
"transcript": "ENST00000937944.1",
"protein_id": "ENSP00000608003.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 824,
"cds_start": 1031,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937944.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.His382Arg",
"transcript": "ENST00000868096.1",
"protein_id": "ENSP00000538155.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 812,
"cds_start": 1145,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868096.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.791A>G",
"hgvs_p": "p.His264Arg",
"transcript": "ENST00000868094.1",
"protein_id": "ENSP00000538153.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 744,
"cds_start": 791,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868094.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.737A>G",
"hgvs_p": "p.His246Arg",
"transcript": "NM_001349848.2",
"protein_id": "NP_001336777.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 726,
"cds_start": 737,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349848.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.737A>G",
"hgvs_p": "p.His246Arg",
"transcript": "NM_001349850.2",
"protein_id": "NP_001336779.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 726,
"cds_start": 737,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349850.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.737A>G",
"hgvs_p": "p.His246Arg",
"transcript": "NM_001349851.2",
"protein_id": "NP_001336780.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 594,
"cds_start": 737,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349851.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.737A>G",
"hgvs_p": "p.His246Arg",
"transcript": "NM_001349852.2",
"protein_id": "NP_001336781.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 594,
"cds_start": 737,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349852.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "c.527A>G",
"hgvs_p": "p.His176Arg",
"transcript": "ENST00000457270.5",
"protein_id": "ENSP00000408282.1",
"transcript_support_level": 5,
"aa_start": 176,
"aa_end": null,
"aa_length": 524,
"cds_start": 527,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457270.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "n.341A>G",
"hgvs_p": null,
"transcript": "ENST00000436282.1",
"protein_id": "ENSP00000416451.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000436282.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "n.*837A>G",
"hgvs_p": null,
"transcript": "ENST00000444502.5",
"protein_id": "ENSP00000392480.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000444502.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "n.*837A>G",
"hgvs_p": null,
"transcript": "ENST00000457179.5",
"protein_id": "ENSP00000397221.1",
"transcript_support_level": 5,
"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": "ENST00000457179.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "n.1383A>G",
"hgvs_p": null,
"transcript": "NR_146277.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_146277.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "n.*837A>G",
"hgvs_p": null,
"transcript": "ENST00000444502.5",
"protein_id": "ENSP00000392480.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000444502.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"hgvs_c": "n.*837A>G",
"hgvs_p": null,
"transcript": "ENST00000457179.5",
"protein_id": "ENSP00000397221.1",
"transcript_support_level": 5,
"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": "ENST00000457179.5"
}
],
"gene_symbol": "TOP3B",
"gene_hgnc_id": 11993,
"dbsnp": "rs75602167",
"frequency_reference_population": 0.016551958,
"hom_count_reference_population": 351,
"allele_count_reference_population": 26695,
"gnomad_exomes_af": 0.0169244,
"gnomad_genomes_af": 0.0129804,
"gnomad_exomes_ac": 24718,
"gnomad_genomes_ac": 1977,
"gnomad_exomes_homalt": 325,
"gnomad_genomes_homalt": 26,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005235821008682251,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.071,
"revel_prediction": "Benign",
"alphamissense_score": 0.0909,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.321,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003935.5",
"gene_symbol": "TOP3B",
"hgnc_id": 11993,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1145A>G",
"hgvs_p": "p.His382Arg"
},
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000458178.2",
"gene_symbol": "PPM1F-AS1",
"hgnc_id": 40888,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.24202T>C",
"hgvs_p": null
}
],
"clinvar_disease": "TOP3B-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "TOP3B-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}