← 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: 8-28348785-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=28348785&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 28348785,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018660.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "NM_018660.3",
"protein_id": "NP_061130.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 4797,
"mane_select": "ENST00000344423.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018660.3"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000344423.10",
"protein_id": "ENSP00000340494.5",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 4797,
"mane_select": "NM_018660.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344423.10"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000523095.5",
"protein_id": "ENSP00000428452.1",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 1790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523095.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000523202.5",
"protein_id": "ENSP00000429640.1",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 2068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523202.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000887379.1",
"protein_id": "ENSP00000557438.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 2045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887379.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000887380.1",
"protein_id": "ENSP00000557439.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887380.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000887381.1",
"protein_id": "ENSP00000557440.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 2300,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887381.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000887382.1",
"protein_id": "ENSP00000557441.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1589,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887382.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000887383.1",
"protein_id": "ENSP00000557442.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 2176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887383.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000887384.1",
"protein_id": "ENSP00000557443.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1683,
"cdna_end": null,
"cdna_length": 2180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887384.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000887385.1",
"protein_id": "ENSP00000557444.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 2157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887385.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000887386.1",
"protein_id": "ENSP00000557445.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887386.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000887387.1",
"protein_id": "ENSP00000557446.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1828,
"cdna_end": null,
"cdna_length": 2354,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887387.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000887388.1",
"protein_id": "ENSP00000557447.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 2027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887388.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000887389.1",
"protein_id": "ENSP00000557448.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1878,
"cdna_end": null,
"cdna_length": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887389.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000887390.1",
"protein_id": "ENSP00000557449.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 2311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887390.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000887391.1",
"protein_id": "ENSP00000557450.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 2121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887391.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000887392.1",
"protein_id": "ENSP00000557451.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1593,
"cdna_end": null,
"cdna_length": 1859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887392.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000887393.1",
"protein_id": "ENSP00000557452.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1931,
"cdna_end": null,
"cdna_length": 2197,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887393.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000887394.1",
"protein_id": "ENSP00000557453.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1746,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887394.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000887395.1",
"protein_id": "ENSP00000557454.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887395.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000887396.1",
"protein_id": "ENSP00000557455.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887396.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000887397.1",
"protein_id": "ENSP00000557456.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 1995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887397.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000887398.1",
"protein_id": "ENSP00000557457.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 3519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887398.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000914548.1",
"protein_id": "ENSP00000584607.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914548.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000942495.1",
"protein_id": "ENSP00000612554.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1644,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942495.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000942496.1",
"protein_id": "ENSP00000612555.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 2771,
"cdna_end": null,
"cdna_length": 3269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942496.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000942497.1",
"protein_id": "ENSP00000612556.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942497.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000942498.1",
"protein_id": "ENSP00000612557.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942498.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000942499.1",
"protein_id": "ENSP00000612558.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1961,
"cdna_end": null,
"cdna_length": 2486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942499.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met",
"transcript": "ENST00000942500.1",
"protein_id": "ENSP00000612559.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 513,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942500.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"hgvs_c": "c.*25C>G",
"hgvs_p": null,
"transcript": "ENST00000520535.1",
"protein_id": "ENSP00000427719.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 30,
"cds_start": null,
"cds_end": null,
"cds_length": 93,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520535.1"
},
{
"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": "FBXO16",
"gene_hgnc_id": 13618,
"hgvs_c": "n.*1327C>G",
"hgvs_p": null,
"transcript": "ENST00000521548.5",
"protein_id": "ENSP00000428902.1",
"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": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000521548.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO16",
"gene_hgnc_id": 13618,
"hgvs_c": "n.*1327C>G",
"hgvs_p": null,
"transcript": "ENST00000521548.5",
"protein_id": "ENSP00000428902.1",
"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": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000521548.5"
}
],
"gene_symbol": "ZNF395",
"gene_hgnc_id": 18737,
"dbsnp": "rs370570508",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 6.8408e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0830036997795105,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.197,
"revel_prediction": "Benign",
"alphamissense_score": 0.392,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.727,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018660.3",
"gene_symbol": "ZNF395",
"hgnc_id": 18737,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1476C>G",
"hgvs_p": "p.Ile492Met"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000521548.5",
"gene_symbol": "FBXO16",
"hgnc_id": 13618,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*1327C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}