← 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: 1-248850404-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=248850404&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 248850404,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001136036.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1366C>T",
"hgvs_p": "p.Arg456Cys",
"transcript": "NM_017865.4",
"protein_id": "NP_060335.2",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 519,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 1942,
"mane_select": "ENST00000306601.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017865.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1366C>T",
"hgvs_p": "p.Arg456Cys",
"transcript": "ENST00000306601.9",
"protein_id": "ENSP00000305483.5",
"transcript_support_level": 1,
"aa_start": 456,
"aa_end": null,
"aa_length": 519,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 1942,
"mane_select": "NM_017865.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306601.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Arg411Cys",
"transcript": "ENST00000366471.7",
"protein_id": "ENSP00000355427.3",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 474,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366471.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "n.*1611C>T",
"hgvs_p": null,
"transcript": "ENST00000463519.5",
"protein_id": "ENSP00000436308.1",
"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": 2704,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000463519.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "n.1631C>T",
"hgvs_p": null,
"transcript": "ENST00000533927.5",
"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": 2026,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000533927.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "n.*1611C>T",
"hgvs_p": null,
"transcript": "ENST00000463519.5",
"protein_id": "ENSP00000436308.1",
"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": 2704,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000463519.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1381C>T",
"hgvs_p": "p.Arg461Cys",
"transcript": "NM_001136036.3",
"protein_id": "NP_001129508.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 524,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 2348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136036.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1381C>T",
"hgvs_p": "p.Arg461Cys",
"transcript": "ENST00000451251.5",
"protein_id": "ENSP00000391200.1",
"transcript_support_level": 2,
"aa_start": 461,
"aa_end": null,
"aa_length": 524,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451251.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1366C>T",
"hgvs_p": "p.Arg456Cys",
"transcript": "ENST00000869877.1",
"protein_id": "ENSP00000539936.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 519,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 1876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869877.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1366C>T",
"hgvs_p": "p.Arg456Cys",
"transcript": "ENST00000869881.1",
"protein_id": "ENSP00000539940.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 519,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869881.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1366C>T",
"hgvs_p": "p.Arg456Cys",
"transcript": "ENST00000914628.1",
"protein_id": "ENSP00000584687.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 519,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 1976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914628.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1366C>T",
"hgvs_p": "p.Arg456Cys",
"transcript": "ENST00000964809.1",
"protein_id": "ENSP00000634868.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 519,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1535,
"cdna_end": null,
"cdna_length": 1934,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964809.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Arg455Cys",
"transcript": "NM_001350072.2",
"protein_id": "NP_001337001.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 518,
"cds_start": 1363,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 1939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350072.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Arg455Cys",
"transcript": "ENST00000869878.1",
"protein_id": "ENSP00000539937.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 518,
"cds_start": 1363,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 1967,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869878.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Arg455Cys",
"transcript": "ENST00000964808.1",
"protein_id": "ENSP00000634867.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 518,
"cds_start": 1363,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 2037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964808.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1330C>T",
"hgvs_p": "p.Arg444Cys",
"transcript": "ENST00000964812.1",
"protein_id": "ENSP00000634871.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 507,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964812.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1327C>T",
"hgvs_p": "p.Arg443Cys",
"transcript": "ENST00000869880.1",
"protein_id": "ENSP00000539939.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 506,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 1775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869880.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425Cys",
"transcript": "ENST00000964810.1",
"protein_id": "ENSP00000634869.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 488,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964810.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1270C>T",
"hgvs_p": "p.Arg424Cys",
"transcript": "ENST00000964811.1",
"protein_id": "ENSP00000634870.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 487,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964811.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Arg411Cys",
"transcript": "NM_001193328.2",
"protein_id": "NP_001180257.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 474,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193328.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Arg411Cys",
"transcript": "ENST00000869876.1",
"protein_id": "ENSP00000539935.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 474,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869876.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1228C>T",
"hgvs_p": "p.Arg410Cys",
"transcript": "ENST00000869879.1",
"protein_id": "ENSP00000539938.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 473,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1298,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869879.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Cys",
"transcript": "ENST00000914625.1",
"protein_id": "ENSP00000584684.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 442,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 1711,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914625.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1102C>T",
"hgvs_p": "p.Arg368Cys",
"transcript": "ENST00000914626.1",
"protein_id": "ENSP00000584685.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 431,
"cds_start": 1102,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1239,
"cdna_end": null,
"cdna_length": 1635,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914626.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Cys",
"transcript": "ENST00000914627.1",
"protein_id": "ENSP00000584686.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 402,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 1450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914627.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Cys",
"transcript": "NM_001350073.2",
"protein_id": "NP_001337002.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 315,
"cds_start": 754,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350073.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.625C>T",
"hgvs_p": "p.Arg209Cys",
"transcript": "ENST00000476503.5",
"protein_id": "ENSP00000431582.1",
"transcript_support_level": 3,
"aa_start": 209,
"aa_end": null,
"aa_length": 272,
"cds_start": 625,
"cds_end": null,
"cds_length": 819,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 1006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476503.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1366C>T",
"hgvs_p": "p.Arg456Cys",
"transcript": "XM_011544222.2",
"protein_id": "XP_011542524.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 519,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544222.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.Arg455Cys",
"transcript": "XM_017001698.2",
"protein_id": "XP_016857187.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 518,
"cds_start": 1363,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001698.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1288C>T",
"hgvs_p": "p.Arg430Cys",
"transcript": "XM_017001700.2",
"protein_id": "XP_016857189.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 493,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 1767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001700.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1288C>T",
"hgvs_p": "p.Arg430Cys",
"transcript": "XM_017001702.3",
"protein_id": "XP_016857191.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 493,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001702.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1285C>T",
"hgvs_p": "p.Arg429Cys",
"transcript": "XM_011544227.2",
"protein_id": "XP_011542529.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 492,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544227.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1285C>T",
"hgvs_p": "p.Arg429Cys",
"transcript": "XM_047424586.1",
"protein_id": "XP_047280542.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 492,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 2322,
"cdna_end": null,
"cdna_length": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424586.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Arg425Cys",
"transcript": "XM_047424581.1",
"protein_id": "XP_047280537.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 488,
"cds_start": 1273,
"cds_end": null,
"cds_length": 1467,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424581.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.Arg411Cys",
"transcript": "XM_047424596.1",
"protein_id": "XP_047280552.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 474,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424596.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Cys",
"transcript": "XM_011544220.3",
"protein_id": "XP_011542522.2",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 315,
"cds_start": 754,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1485,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544220.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Cys",
"transcript": "XM_024448274.2",
"protein_id": "XP_024304042.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 315,
"cds_start": 754,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 1802,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448274.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Cys",
"transcript": "XM_047424599.1",
"protein_id": "XP_047280555.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 315,
"cds_start": 754,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424599.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.754C>T",
"hgvs_p": "p.Arg252Cys",
"transcript": "XM_047424603.1",
"protein_id": "XP_047280559.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 315,
"cds_start": 754,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 1773,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424603.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.751C>T",
"hgvs_p": "p.Arg251Cys",
"transcript": "XM_011544221.3",
"protein_id": "XP_011542523.2",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 314,
"cds_start": 751,
"cds_end": null,
"cds_length": 945,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 1878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544221.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.676C>T",
"hgvs_p": "p.Arg226Cys",
"transcript": "XM_017001699.3",
"protein_id": "XP_016857188.2",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 289,
"cds_start": 676,
"cds_end": null,
"cds_length": 870,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001699.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "n.*1076C>T",
"hgvs_p": null,
"transcript": "ENST00000412341.6",
"protein_id": "ENSP00000393552.2",
"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": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000412341.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "n.800C>T",
"hgvs_p": null,
"transcript": "ENST00000462037.6",
"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": 827,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000462037.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "n.1422C>T",
"hgvs_p": null,
"transcript": "ENST00000470787.6",
"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": 1544,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470787.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "n.847C>T",
"hgvs_p": null,
"transcript": "ENST00000474351.5",
"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": 867,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000474351.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "n.*665C>T",
"hgvs_p": null,
"transcript": "ENST00000477070.6",
"protein_id": "ENSP00000436814.1",
"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": 1521,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000477070.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "n.*254C>T",
"hgvs_p": null,
"transcript": "ENST00000482023.5",
"protein_id": "ENSP00000433522.1",
"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": 851,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000482023.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "n.*1076C>T",
"hgvs_p": null,
"transcript": "ENST00000412341.6",
"protein_id": "ENSP00000393552.2",
"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": 1916,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000412341.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "n.*665C>T",
"hgvs_p": null,
"transcript": "ENST00000477070.6",
"protein_id": "ENSP00000436814.1",
"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": 1521,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000477070.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "n.*254C>T",
"hgvs_p": null,
"transcript": "ENST00000482023.5",
"protein_id": "ENSP00000433522.1",
"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": 851,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000482023.5"
}
],
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"dbsnp": "rs770556352",
"frequency_reference_population": 0.000011771645,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000109453,
"gnomad_genomes_af": 0.0000197062,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1456194818019867,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.113,
"revel_prediction": "Benign",
"alphamissense_score": 0.2122,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.63,
"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_001136036.3",
"gene_symbol": "ZNF692",
"hgnc_id": 26049,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1381C>T",
"hgvs_p": "p.Arg461Cys"
}
],
"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
}