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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: 1-248850460-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=248850460&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 248850460,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001136036.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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.1310G>A",
"hgvs_p": "p.Arg437His",
"transcript": "NM_017865.4",
"protein_id": "NP_060335.2",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 519,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306601.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017865.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1310G>A",
"hgvs_p": "p.Arg437His",
"transcript": "ENST00000306601.9",
"protein_id": "ENSP00000305483.5",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 519,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017865.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306601.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1175G>A",
"hgvs_p": "p.Arg392His",
"transcript": "ENST00000366471.7",
"protein_id": "ENSP00000355427.3",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 474,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.*1555G>A",
"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": null,
"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.1575G>A",
"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": null,
"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.*1555G>A",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000463519.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1325G>A",
"hgvs_p": "p.Arg442His",
"transcript": "NM_001136036.3",
"protein_id": "NP_001129508.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 524,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136036.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1325G>A",
"hgvs_p": "p.Arg442His",
"transcript": "ENST00000451251.5",
"protein_id": "ENSP00000391200.1",
"transcript_support_level": 2,
"aa_start": 442,
"aa_end": null,
"aa_length": 524,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451251.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1310G>A",
"hgvs_p": "p.Arg437His",
"transcript": "ENST00000869877.1",
"protein_id": "ENSP00000539936.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 519,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869877.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1310G>A",
"hgvs_p": "p.Arg437His",
"transcript": "ENST00000869881.1",
"protein_id": "ENSP00000539940.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 519,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869881.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1310G>A",
"hgvs_p": "p.Arg437His",
"transcript": "ENST00000914628.1",
"protein_id": "ENSP00000584687.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 519,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914628.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1310G>A",
"hgvs_p": "p.Arg437His",
"transcript": "ENST00000964809.1",
"protein_id": "ENSP00000634868.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 519,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964809.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1307G>A",
"hgvs_p": "p.Arg436His",
"transcript": "NM_001350072.2",
"protein_id": "NP_001337001.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 518,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350072.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1307G>A",
"hgvs_p": "p.Arg436His",
"transcript": "ENST00000869878.1",
"protein_id": "ENSP00000539937.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 518,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869878.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1307G>A",
"hgvs_p": "p.Arg436His",
"transcript": "ENST00000964808.1",
"protein_id": "ENSP00000634867.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 518,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964808.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1274G>A",
"hgvs_p": "p.Arg425His",
"transcript": "ENST00000964812.1",
"protein_id": "ENSP00000634871.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 507,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964812.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1271G>A",
"hgvs_p": "p.Arg424His",
"transcript": "ENST00000869880.1",
"protein_id": "ENSP00000539939.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 506,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869880.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1217G>A",
"hgvs_p": "p.Arg406His",
"transcript": "ENST00000964810.1",
"protein_id": "ENSP00000634869.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 488,
"cds_start": 1217,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964810.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1214G>A",
"hgvs_p": "p.Arg405His",
"transcript": "ENST00000964811.1",
"protein_id": "ENSP00000634870.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 487,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964811.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1175G>A",
"hgvs_p": "p.Arg392His",
"transcript": "NM_001193328.2",
"protein_id": "NP_001180257.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 474,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193328.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1175G>A",
"hgvs_p": "p.Arg392His",
"transcript": "ENST00000869876.1",
"protein_id": "ENSP00000539935.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 474,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869876.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.1172G>A",
"hgvs_p": "p.Arg391His",
"transcript": "ENST00000869879.1",
"protein_id": "ENSP00000539938.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 473,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"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.*609G>A",
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"transcript": "ENST00000477070.6",
"protein_id": "ENSP00000436814.1",
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"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": "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.*198G>A",
"hgvs_p": null,
"transcript": "ENST00000482023.5",
"protein_id": "ENSP00000433522.1",
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"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": "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.*1020G>A",
"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": null,
"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.*609G>A",
"hgvs_p": null,
"transcript": "ENST00000477070.6",
"protein_id": "ENSP00000436814.1",
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"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": "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.*198G>A",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000482023.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.*363G>A",
"hgvs_p": null,
"transcript": "XM_047424583.1",
"protein_id": "XP_047280539.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 194,
"cds_start": null,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424583.1"
}
],
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"dbsnp": "rs749077817",
"frequency_reference_population": 0.000027893311,
"hom_count_reference_population": 0,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.0000301155,
"gnomad_genomes_af": 0.00000656832,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2811787724494934,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.217,
"revel_prediction": "Benign",
"alphamissense_score": 0.565,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.322,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001136036.3",
"gene_symbol": "ZNF692",
"hgnc_id": 26049,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1325G>A",
"hgvs_p": "p.Arg442His"
}
],
"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
}