← 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: 1-32600256-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=32600256&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 32600256,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001040441.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"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": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr",
"transcript": "NM_001040441.3",
"protein_id": "NP_001035531.2",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 441,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 7077,
"mane_select": "ENST00000373510.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040441.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"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": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr",
"transcript": "ENST00000373510.9",
"protein_id": "ENSP00000362609.3",
"transcript_support_level": 1,
"aa_start": 388,
"aa_end": null,
"aa_length": 441,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 7077,
"mane_select": "NM_001040441.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373510.9"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB8OS",
"gene_hgnc_id": 24094,
"hgvs_c": "c.192A>G",
"hgvs_p": "p.Thr64Thr",
"transcript": "ENST00000341885.6",
"protein_id": "ENSP00000343760.6",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 64,
"cds_start": 192,
"cds_end": null,
"cds_length": 195,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341885.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.994-12T>C",
"hgvs_p": null,
"transcript": "ENST00000316459.4",
"protein_id": "ENSP00000317561.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": null,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316459.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000254553",
"gene_hgnc_id": null,
"hgvs_c": "n.*1282T>C",
"hgvs_p": null,
"transcript": "ENST00000480336.1",
"protein_id": "ENSP00000455300.1",
"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": 3447,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000480336.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000254553",
"gene_hgnc_id": null,
"hgvs_c": "n.*1282T>C",
"hgvs_p": null,
"transcript": "ENST00000480336.1",
"protein_id": "ENSP00000455300.1",
"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": 3447,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000480336.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr",
"transcript": "ENST00000854540.1",
"protein_id": "ENSP00000524599.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 441,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854540.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr",
"transcript": "ENST00000854541.1",
"protein_id": "ENSP00000524600.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 441,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 2338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854541.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr",
"transcript": "ENST00000854542.1",
"protein_id": "ENSP00000524601.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 441,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 2121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854542.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr",
"transcript": "ENST00000854543.1",
"protein_id": "ENSP00000524602.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 441,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854543.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr",
"transcript": "ENST00000926868.1",
"protein_id": "ENSP00000596927.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 441,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 3355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926868.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr",
"transcript": "ENST00000926869.1",
"protein_id": "ENSP00000596928.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 441,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 2279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926869.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr",
"transcript": "ENST00000952738.1",
"protein_id": "ENSP00000622797.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 441,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1601,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952738.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr",
"transcript": "ENST00000952739.1",
"protein_id": "ENSP00000622798.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 441,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952739.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr",
"transcript": "ENST00000952740.1",
"protein_id": "ENSP00000622799.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 441,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 2279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952740.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr",
"transcript": "ENST00000952741.1",
"protein_id": "ENSP00000622800.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 441,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1796,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952741.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr",
"transcript": "ENST00000952742.1",
"protein_id": "ENSP00000622801.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 441,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952742.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr",
"transcript": "ENST00000952743.1",
"protein_id": "ENSP00000622802.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 441,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952743.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr",
"transcript": "ENST00000952744.1",
"protein_id": "ENSP00000622803.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 441,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952744.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr",
"transcript": "ENST00000952745.1",
"protein_id": "ENSP00000622804.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 441,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 2310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952745.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr",
"transcript": "ENST00000952746.1",
"protein_id": "ENSP00000622805.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 441,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 2270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952746.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr",
"transcript": "ENST00000952747.1",
"protein_id": "ENSP00000622806.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 441,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952747.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr",
"transcript": "ENST00000952748.1",
"protein_id": "ENSP00000622807.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 441,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952748.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr",
"transcript": "ENST00000952749.1",
"protein_id": "ENSP00000622808.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 441,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952749.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "c.994-12T>C",
"hgvs_p": null,
"transcript": "NM_001291496.2",
"protein_id": "NP_001278425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": null,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291496.2"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "ZBTB8A",
"gene_hgnc_id": 24172,
"hgvs_c": "n.399-12T>C",
"hgvs_p": null,
"transcript": "NR_111980.2",
"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": 6072,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_111980.2"
}
],
"gene_symbol": "ZBTB8A",
"gene_hgnc_id": 24172,
"dbsnp": "rs1644565400",
"frequency_reference_population": 0.0000013681257,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136813,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0425562858581543,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.0846,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.433,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001040441.3",
"gene_symbol": "ZBTB8A",
"hgnc_id": 24172,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1163T>C",
"hgvs_p": "p.Met388Thr"
},
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000341885.6",
"gene_symbol": "ZBTB8OS",
"hgnc_id": 24094,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.192A>G",
"hgvs_p": "p.Thr64Thr"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000480336.1",
"gene_symbol": "ENSG00000254553",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1282T>C",
"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
}