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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: 19-20948855-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=20948855&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 20948855,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001256171.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.341T>C",
"hgvs_p": "p.Leu114Ser",
"transcript": "NM_003429.5",
"protein_id": "NP_003420.2",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 595,
"cds_start": 341,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000328178.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003429.5"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.341T>C",
"hgvs_p": "p.Leu114Ser",
"transcript": "ENST00000328178.13",
"protein_id": "ENSP00000329793.7",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 595,
"cds_start": 341,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003429.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328178.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "n.319T>C",
"hgvs_p": null,
"transcript": "ENST00000596534.5",
"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": "ENST00000596534.5"
},
{
"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": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "n.810T>C",
"hgvs_p": null,
"transcript": "ENST00000601023.2",
"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": "ENST00000601023.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Leu159Ser",
"transcript": "ENST00000871848.1",
"protein_id": "ENSP00000541907.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 640,
"cds_start": 476,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871848.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Leu144Ser",
"transcript": "NM_001256171.2",
"protein_id": "NP_001243100.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 625,
"cds_start": 431,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256171.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.386T>C",
"hgvs_p": "p.Leu129Ser",
"transcript": "ENST00000916283.1",
"protein_id": "ENSP00000586342.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 610,
"cds_start": 386,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916283.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.242T>C",
"hgvs_p": "p.Leu81Ser",
"transcript": "ENST00000345030.6",
"protein_id": "ENSP00000342340.5",
"transcript_support_level": 5,
"aa_start": 81,
"aa_end": null,
"aa_length": 562,
"cds_start": 242,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345030.6"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.149T>C",
"hgvs_p": "p.Leu50Ser",
"transcript": "NM_001256173.2",
"protein_id": "NP_001243102.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 531,
"cds_start": 149,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256173.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.128T>C",
"hgvs_p": "p.Leu43Ser",
"transcript": "ENST00000916284.1",
"protein_id": "ENSP00000586343.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 524,
"cds_start": 128,
"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": "ENST00000916284.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.149T>C",
"hgvs_p": "p.Leu50Ser",
"transcript": "ENST00000599885.1",
"protein_id": "ENSP00000470667.1",
"transcript_support_level": 4,
"aa_start": 50,
"aa_end": null,
"aa_length": 128,
"cds_start": 149,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599885.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.320T>C",
"hgvs_p": "p.Leu107Ser",
"transcript": "ENST00000601924.5",
"protein_id": "ENSP00000471286.1",
"transcript_support_level": 4,
"aa_start": 107,
"aa_end": null,
"aa_length": 118,
"cds_start": 320,
"cds_end": null,
"cds_length": 358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601924.5"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.476T>C",
"hgvs_p": "p.Leu159Ser",
"transcript": "XM_011528263.3",
"protein_id": "XP_011526565.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 640,
"cds_start": 476,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528263.3"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.380T>C",
"hgvs_p": "p.Leu127Ser",
"transcript": "XM_047439353.1",
"protein_id": "XP_047295309.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 608,
"cds_start": 380,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439353.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.185T>C",
"hgvs_p": "p.Leu62Ser",
"transcript": "XM_047439354.1",
"protein_id": "XP_047295310.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 543,
"cds_start": 185,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439354.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.164T>C",
"hgvs_p": "p.Leu55Ser",
"transcript": "XM_011528264.1",
"protein_id": "XP_011526566.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 536,
"cds_start": 164,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528264.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.110T>C",
"hgvs_p": "p.Leu37Ser",
"transcript": "XM_047439355.1",
"protein_id": "XP_047295311.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 518,
"cds_start": 110,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439355.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.110T>C",
"hgvs_p": "p.Leu37Ser",
"transcript": "XM_047439356.1",
"protein_id": "XP_047295312.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 518,
"cds_start": 110,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439356.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.110T>C",
"hgvs_p": "p.Leu37Ser",
"transcript": "XM_047439357.1",
"protein_id": "XP_047295313.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 518,
"cds_start": 110,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439357.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.110T>C",
"hgvs_p": "p.Leu37Ser",
"transcript": "XM_047439358.1",
"protein_id": "XP_047295314.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 518,
"cds_start": 110,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439358.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.110T>C",
"hgvs_p": "p.Leu37Ser",
"transcript": "XM_047439359.1",
"protein_id": "XP_047295315.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 518,
"cds_start": 110,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439359.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.*135T>C",
"hgvs_p": null,
"transcript": "ENST00000597314.5",
"protein_id": "ENSP00000471467.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": null,
"cds_end": null,
"cds_length": 189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597314.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "n.264T>C",
"hgvs_p": null,
"transcript": "ENST00000595742.1",
"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": "pseudogene",
"feature": "ENST00000595742.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "n.260T>C",
"hgvs_p": null,
"transcript": "ENST00000598862.5",
"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": "pseudogene",
"feature": "ENST00000598862.5"
},
{
"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": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "n.188T>C",
"hgvs_p": null,
"transcript": "ENST00000599064.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000599064.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000298806",
"gene_hgnc_id": null,
"hgvs_c": "n.278+22523A>G",
"hgvs_p": null,
"transcript": "ENST00000758057.1",
"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": "ENST00000758057.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"hgvs_c": "c.*64T>C",
"hgvs_p": null,
"transcript": "ENST00000601284.5",
"protein_id": "ENSP00000470347.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": null,
"cds_end": null,
"cds_length": 367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601284.5"
}
],
"gene_symbol": "ZNF85",
"gene_hgnc_id": 13160,
"dbsnp": "rs144547908",
"frequency_reference_population": 0.000045259305,
"hom_count_reference_population": 0,
"allele_count_reference_population": 73,
"gnomad_exomes_af": 0.0000458624,
"gnomad_genomes_af": 0.0000394643,
"gnomad_exomes_ac": 67,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21766707301139832,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.1093,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.118,
"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_001256171.2",
"gene_symbol": "ZNF85",
"hgnc_id": 13160,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Leu144Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000758057.1",
"gene_symbol": "ENSG00000298806",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.278+22523A>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
}