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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: 12-133182008-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=133182008&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 133182008,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003415.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "NM_003415.3",
"protein_id": "NP_003406.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 947,
"cds_start": 11,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000536435.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003415.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "ENST00000536435.7",
"protein_id": "ENSP00000444412.3",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 947,
"cds_start": 11,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003415.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536435.7"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "ENST00000228289.9",
"protein_id": "ENSP00000228289.5",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 947,
"cds_start": 11,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228289.9"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256825",
"gene_hgnc_id": null,
"hgvs_c": "c.506G>C",
"hgvs_p": "p.Arg169Thr",
"transcript": "ENST00000540096.2",
"protein_id": "ENSP00000457704.2",
"transcript_support_level": 2,
"aa_start": 169,
"aa_end": null,
"aa_length": 358,
"cds_start": 506,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540096.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "ENST00000541009.6",
"protein_id": "ENSP00000439539.2",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 193,
"cds_start": 11,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541009.6"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "ENST00000541211.6",
"protein_id": "ENSP00000442446.2",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 167,
"cds_start": 11,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541211.6"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "ENST00000539248.6",
"protein_id": "ENSP00000467781.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 135,
"cds_start": 11,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539248.6"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "ENST00000592241.5",
"protein_id": "ENSP00000467922.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 126,
"cds_start": 11,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592241.5"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "ENST00000542711.6",
"protein_id": "ENSP00000437858.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 100,
"cds_start": 11,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542711.6"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "ENST00000536899.6",
"protein_id": "ENSP00000438941.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 68,
"cds_start": 11,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536899.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "n.11G>C",
"hgvs_p": null,
"transcript": "ENST00000588312.2",
"protein_id": "ENSP00000466622.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000588312.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "NM_001165881.3",
"protein_id": "NP_001159353.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 947,
"cds_start": 11,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165881.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "ENST00000937514.1",
"protein_id": "ENSP00000607573.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 932,
"cds_start": 11,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937514.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "ENST00000885506.1",
"protein_id": "ENSP00000555565.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 880,
"cds_start": 11,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885506.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "ENST00000885507.1",
"protein_id": "ENSP00000555566.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 880,
"cds_start": 11,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885507.1"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "NM_152943.3",
"protein_id": "NP_694422.2",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 193,
"cds_start": 11,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152943.3"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "ENST00000416488.5",
"protein_id": "ENSP00000409295.2",
"transcript_support_level": 4,
"aa_start": 4,
"aa_end": null,
"aa_length": 188,
"cds_start": 11,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416488.5"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "ENST00000542986.6",
"protein_id": "ENSP00000443721.2",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 178,
"cds_start": 11,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542986.6"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "NM_001165885.2",
"protein_id": "NP_001159357.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 167,
"cds_start": 11,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165885.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "NM_001165883.2",
"protein_id": "NP_001159355.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 135,
"cds_start": 11,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165883.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "NM_001165887.2",
"protein_id": "NP_001159359.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 126,
"cds_start": 11,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165887.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "ENST00000611984.4",
"protein_id": "ENSP00000479191.1",
"transcript_support_level": 5,
"aa_start": 4,
"aa_end": null,
"aa_length": 121,
"cds_start": 11,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611984.4"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "NM_001165886.2",
"protein_id": "NP_001159358.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 100,
"cds_start": 11,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165886.2"
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr",
"transcript": "NM_001165884.3",
"protein_id": "NP_001159356.2",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 68,
"cds_start": 11,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165884.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.-246G>C",
"hgvs_p": null,
"transcript": "NM_001165882.3",
"protein_id": "NP_001159354.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": null,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165882.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.-246G>C",
"hgvs_p": null,
"transcript": "ENST00000500625.7",
"protein_id": "ENSP00000466629.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": null,
"cds_end": null,
"cds_length": 284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000500625.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "c.-246G>C",
"hgvs_p": null,
"transcript": "ENST00000541975.2",
"protein_id": "ENSP00000446153.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 34,
"cds_start": null,
"cds_end": null,
"cds_length": 105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541975.2"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "n.255G>C",
"hgvs_p": null,
"transcript": "ENST00000537973.5",
"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": "retained_intron",
"feature": "ENST00000537973.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"hgvs_c": "n.11G>C",
"hgvs_p": null,
"transcript": "ENST00000546126.7",
"protein_id": "ENSP00000437410.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000546126.7"
}
],
"gene_symbol": "ZNF268",
"gene_hgnc_id": 13061,
"dbsnp": "rs572005987",
"frequency_reference_population": 0.0000849149,
"hom_count_reference_population": 1,
"allele_count_reference_population": 133,
"gnomad_exomes_af": 0.0000905222,
"gnomad_genomes_af": 0.0000328394,
"gnomad_exomes_ac": 128,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.017008036375045776,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.07,
"revel_prediction": "Benign",
"alphamissense_score": 0.2979,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.816,
"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": "NM_003415.3",
"gene_symbol": "ZNF268",
"hgnc_id": 13061,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.11G>C",
"hgvs_p": "p.Arg4Thr"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000540096.2",
"gene_symbol": "ENSG00000256825",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.506G>C",
"hgvs_p": "p.Arg169Thr"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}