← 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: 2-218655682-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218655682&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218655682,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000411696.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.280+468G>C",
"hgvs_p": null,
"transcript": "NM_001379659.1",
"protein_id": "NP_001366588.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1887,
"cds_start": -4,
"cds_end": null,
"cds_length": 5664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11290,
"mane_select": "ENST00000411696.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.280+468G>C",
"hgvs_p": null,
"transcript": "ENST00000411696.7",
"protein_id": "ENSP00000398798.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1887,
"cds_start": -4,
"cds_end": null,
"cds_length": 5664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11290,
"mane_select": "NM_001379659.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.280+468G>C",
"hgvs_p": null,
"transcript": "ENST00000449707.5",
"protein_id": "ENSP00000408643.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1687,
"cds_start": -4,
"cds_end": null,
"cds_length": 5064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "n.280+468G>C",
"hgvs_p": null,
"transcript": "ENST00000450765.5",
"protein_id": "ENSP00000397456.1",
"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": 6028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.*400G>C",
"hgvs_p": null,
"transcript": "NM_001367339.1",
"protein_id": "NP_001354268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": -4,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.*400G>C",
"hgvs_p": null,
"transcript": "NM_001367340.1",
"protein_id": "NP_001354269.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": -4,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.*400G>C",
"hgvs_p": null,
"transcript": "NM_001367341.1",
"protein_id": "NP_001354270.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": -4,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.*400G>C",
"hgvs_p": null,
"transcript": "NM_001367342.1",
"protein_id": "NP_001354271.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": -4,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.280+468G>C",
"hgvs_p": null,
"transcript": "NM_001366290.3",
"protein_id": "NP_001353219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1887,
"cds_start": -4,
"cds_end": null,
"cds_length": 5664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.280+468G>C",
"hgvs_p": null,
"transcript": "NM_001379660.1",
"protein_id": "NP_001366589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1887,
"cds_start": -4,
"cds_end": null,
"cds_length": 5664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.280+468G>C",
"hgvs_p": null,
"transcript": "NM_001379661.1",
"protein_id": "NP_001366590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1887,
"cds_start": -4,
"cds_end": null,
"cds_length": 5664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.280+468G>C",
"hgvs_p": null,
"transcript": "NM_001105537.4",
"protein_id": "NP_001099007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1687,
"cds_start": -4,
"cds_end": null,
"cds_length": 5064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.280+468G>C",
"hgvs_p": null,
"transcript": "NM_001366291.2",
"protein_id": "NP_001353220.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1687,
"cds_start": -4,
"cds_end": null,
"cds_length": 5064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.280+468G>C",
"hgvs_p": null,
"transcript": "NM_001379662.1",
"protein_id": "NP_001366591.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1687,
"cds_start": -4,
"cds_end": null,
"cds_length": 5064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.-332+468G>C",
"hgvs_p": null,
"transcript": "NM_001366287.2",
"protein_id": "NP_001353216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1524,
"cds_start": -4,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.-332+468G>C",
"hgvs_p": null,
"transcript": "NM_001366288.2",
"protein_id": "NP_001353217.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1524,
"cds_start": -4,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.-332+468G>C",
"hgvs_p": null,
"transcript": "NM_001366289.2",
"protein_id": "NP_001353218.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1524,
"cds_start": -4,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.280+468G>C",
"hgvs_p": null,
"transcript": "ENST00000440934.2",
"protein_id": "ENSP00000415156.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1064,
"cds_start": -4,
"cds_end": null,
"cds_length": 3196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "n.280+468G>C",
"hgvs_p": null,
"transcript": "ENST00000433921.5",
"protein_id": "ENSP00000405477.1",
"transcript_support_level": 2,
"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": 5800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.280+468G>C",
"hgvs_p": null,
"transcript": "XM_011511786.3",
"protein_id": "XP_011510088.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1887,
"cds_start": -4,
"cds_end": null,
"cds_length": 5664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.280+468G>C",
"hgvs_p": null,
"transcript": "XM_011511788.3",
"protein_id": "XP_011510090.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1887,
"cds_start": -4,
"cds_end": null,
"cds_length": 5664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.280+468G>C",
"hgvs_p": null,
"transcript": "XM_047445777.1",
"protein_id": "XP_047301733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1887,
"cds_start": -4,
"cds_end": null,
"cds_length": 5664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.280+468G>C",
"hgvs_p": null,
"transcript": "XM_047445778.1",
"protein_id": "XP_047301734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1687,
"cds_start": -4,
"cds_end": null,
"cds_length": 5064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.280+468G>C",
"hgvs_p": null,
"transcript": "XM_047445779.1",
"protein_id": "XP_047301735.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1687,
"cds_start": -4,
"cds_end": null,
"cds_length": 5064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.280+468G>C",
"hgvs_p": null,
"transcript": "XM_047445780.1",
"protein_id": "XP_047301736.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1687,
"cds_start": -4,
"cds_end": null,
"cds_length": 5064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.280+468G>C",
"hgvs_p": null,
"transcript": "XM_047445781.1",
"protein_id": "XP_047301737.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1687,
"cds_start": -4,
"cds_end": null,
"cds_length": 5064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.280+468G>C",
"hgvs_p": null,
"transcript": "XM_047445782.1",
"protein_id": "XP_047301738.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1687,
"cds_start": -4,
"cds_end": null,
"cds_length": 5064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.-209+468G>C",
"hgvs_p": null,
"transcript": "XM_047445783.1",
"protein_id": "XP_047301739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1648,
"cds_start": -4,
"cds_end": null,
"cds_length": 4947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"hgvs_c": "c.-289+468G>C",
"hgvs_p": null,
"transcript": "XM_047445784.1",
"protein_id": "XP_047301740.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1524,
"cds_start": -4,
"cds_end": null,
"cds_length": 4575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF142",
"gene_hgnc_id": 12927,
"dbsnp": "rs3931102",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7900000214576721,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.161,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000411696.7",
"gene_symbol": "ZNF142",
"hgnc_id": 12927,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.280+468G>C",
"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
}