← 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: 19-51965039-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51965039&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51965039,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000243644.9",
"consequences": [
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1414T>C",
"hgvs_p": "p.Ser472Pro",
"transcript": "NM_021632.4",
"protein_id": "NP_067645.3",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 532,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 2355,
"mane_select": "ENST00000243644.9",
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1414T>C",
"hgvs_p": "p.Ser472Pro",
"transcript": "ENST00000243644.9",
"protein_id": "ENSP00000243644.3",
"transcript_support_level": 1,
"aa_start": 472,
"aa_end": null,
"aa_length": 532,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 2355,
"mane_select": "NM_021632.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.125-11352A>G",
"hgvs_p": null,
"transcript": "ENST00000595010.5",
"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": 755,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1540T>C",
"hgvs_p": "p.Ser514Pro",
"transcript": "XM_017027094.2",
"protein_id": "XP_016882583.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 574,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1782,
"cdna_end": null,
"cdna_length": 2481,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1540T>C",
"hgvs_p": "p.Ser514Pro",
"transcript": "XM_017027096.2",
"protein_id": "XP_016882585.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 574,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 2516,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1540T>C",
"hgvs_p": "p.Ser514Pro",
"transcript": "XM_047439182.1",
"protein_id": "XP_047295138.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 574,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 2729,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1540T>C",
"hgvs_p": "p.Ser514Pro",
"transcript": "XM_047439183.1",
"protein_id": "XP_047295139.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 574,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 2772,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1414T>C",
"hgvs_p": "p.Ser472Pro",
"transcript": "XM_017027098.2",
"protein_id": "XP_016882587.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 532,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1904,
"cdna_end": null,
"cdna_length": 2603,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1414T>C",
"hgvs_p": "p.Ser472Pro",
"transcript": "XM_017027099.2",
"protein_id": "XP_016882588.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 532,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1947,
"cdna_end": null,
"cdna_length": 2646,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1414T>C",
"hgvs_p": "p.Ser472Pro",
"transcript": "XM_017027100.1",
"protein_id": "XP_016882589.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 532,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1801,
"cdna_end": null,
"cdna_length": 2500,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1414T>C",
"hgvs_p": "p.Ser472Pro",
"transcript": "XM_047439184.1",
"protein_id": "XP_047295140.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 532,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2244,
"cdna_end": null,
"cdna_length": 2943,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.1414T>C",
"hgvs_p": "p.Ser472Pro",
"transcript": "XM_047439185.1",
"protein_id": "XP_047295141.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 532,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 2804,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.736T>C",
"hgvs_p": "p.Ser246Pro",
"transcript": "XM_047439186.1",
"protein_id": "XP_047295142.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 306,
"cds_start": 736,
"cds_end": null,
"cds_length": 921,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 1946,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.736T>C",
"hgvs_p": "p.Ser246Pro",
"transcript": "XM_047439187.1",
"protein_id": "XP_047295143.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 306,
"cds_start": 736,
"cds_end": null,
"cds_length": 921,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 1948,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"hgvs_c": "c.736T>C",
"hgvs_p": "p.Ser246Pro",
"transcript": "XM_047439188.1",
"protein_id": "XP_047295144.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 306,
"cds_start": 736,
"cds_end": null,
"cds_length": 921,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.103-11352A>G",
"hgvs_p": null,
"transcript": "ENST00000600253.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.92-11352A>G",
"hgvs_p": null,
"transcript": "ENST00000658402.1",
"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": 4562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.90-11352A>G",
"hgvs_p": null,
"transcript": "ENST00000661211.1",
"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": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.109-10934A>G",
"hgvs_p": null,
"transcript": "ENST00000692818.2",
"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": 480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.114+15804A>G",
"hgvs_p": null,
"transcript": "ENST00000797553.1",
"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": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.54-6057A>G",
"hgvs_p": null,
"transcript": "ENST00000797554.1",
"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": 748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.140-11352A>G",
"hgvs_p": null,
"transcript": "ENST00000797555.1",
"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": 763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.49-11352A>G",
"hgvs_p": null,
"transcript": "ENST00000797556.1",
"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": 322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.114-6057A>G",
"hgvs_p": null,
"transcript": "ENST00000797557.1",
"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": 767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.96-10723A>G",
"hgvs_p": null,
"transcript": "ENST00000797558.1",
"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": 678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.55-6057A>G",
"hgvs_p": null,
"transcript": "ENST00000797559.1",
"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": 497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.78-3814A>G",
"hgvs_p": null,
"transcript": "ENST00000797560.1",
"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": 411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF350-AS1",
"gene_hgnc_id": 48598,
"hgvs_c": "n.103-11352A>G",
"hgvs_p": null,
"transcript": "NR_103847.1",
"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": 726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF350",
"gene_hgnc_id": 16656,
"dbsnp": "rs4986771",
"frequency_reference_population": 0.03509948,
"hom_count_reference_population": 1191,
"allele_count_reference_population": 56654,
"gnomad_exomes_af": 0.0359752,
"gnomad_genomes_af": 0.0266899,
"gnomad_exomes_ac": 52591,
"gnomad_genomes_ac": 4063,
"gnomad_exomes_homalt": 1122,
"gnomad_genomes_homalt": 69,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002176344394683838,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.0836,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.334,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000243644.9",
"gene_symbol": "ZNF350",
"hgnc_id": 16656,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1414T>C",
"hgvs_p": "p.Ser472Pro"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000595010.5",
"gene_symbol": "ZNF350-AS1",
"hgnc_id": 48598,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.125-11352A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}