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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: 1-248850752-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=248850752&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 248850752,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001136036.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1183G>A",
"hgvs_p": "p.Ala395Thr",
"transcript": "NM_017865.4",
"protein_id": "NP_060335.2",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 519,
"cds_start": 1183,
"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": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1183G>A",
"hgvs_p": "p.Ala395Thr",
"transcript": "ENST00000306601.9",
"protein_id": "ENSP00000305483.5",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 519,
"cds_start": 1183,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1048G>A",
"hgvs_p": "p.Ala350Thr",
"transcript": "ENST00000366471.7",
"protein_id": "ENSP00000355427.3",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 474,
"cds_start": 1048,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "n.*1428G>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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "n.1448G>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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "n.*1428G>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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Ala400Thr",
"transcript": "NM_001136036.3",
"protein_id": "NP_001129508.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 524,
"cds_start": 1198,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Ala400Thr",
"transcript": "ENST00000451251.5",
"protein_id": "ENSP00000391200.1",
"transcript_support_level": 2,
"aa_start": 400,
"aa_end": null,
"aa_length": 524,
"cds_start": 1198,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1183G>A",
"hgvs_p": "p.Ala395Thr",
"transcript": "ENST00000869877.1",
"protein_id": "ENSP00000539936.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 519,
"cds_start": 1183,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1183G>A",
"hgvs_p": "p.Ala395Thr",
"transcript": "ENST00000869881.1",
"protein_id": "ENSP00000539940.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 519,
"cds_start": 1183,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1183G>A",
"hgvs_p": "p.Ala395Thr",
"transcript": "ENST00000914628.1",
"protein_id": "ENSP00000584687.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 519,
"cds_start": 1183,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1183G>A",
"hgvs_p": "p.Ala395Thr",
"transcript": "ENST00000964809.1",
"protein_id": "ENSP00000634868.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 519,
"cds_start": 1183,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Ala394Thr",
"transcript": "NM_001350072.2",
"protein_id": "NP_001337001.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 518,
"cds_start": 1180,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Ala394Thr",
"transcript": "ENST00000869878.1",
"protein_id": "ENSP00000539937.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 518,
"cds_start": 1180,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1180G>A",
"hgvs_p": "p.Ala394Thr",
"transcript": "ENST00000964808.1",
"protein_id": "ENSP00000634867.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 518,
"cds_start": 1180,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Ala383Thr",
"transcript": "ENST00000964812.1",
"protein_id": "ENSP00000634871.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 507,
"cds_start": 1147,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Ala382Thr",
"transcript": "ENST00000869880.1",
"protein_id": "ENSP00000539939.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 506,
"cds_start": 1144,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1090G>A",
"hgvs_p": "p.Ala364Thr",
"transcript": "ENST00000964810.1",
"protein_id": "ENSP00000634869.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 488,
"cds_start": 1090,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Ala363Thr",
"transcript": "ENST00000964811.1",
"protein_id": "ENSP00000634870.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 487,
"cds_start": 1087,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1048G>A",
"hgvs_p": "p.Ala350Thr",
"transcript": "NM_001193328.2",
"protein_id": "NP_001180257.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 474,
"cds_start": 1048,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1048G>A",
"hgvs_p": "p.Ala350Thr",
"transcript": "ENST00000869876.1",
"protein_id": "ENSP00000539935.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 474,
"cds_start": 1048,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"hgvs_c": "c.1045G>A",
"hgvs_p": "p.Ala349Thr",
"transcript": "ENST00000869879.1",
"protein_id": "ENSP00000539938.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 473,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
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"feature": "ENST00000474351.5"
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 5,
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"gene_symbol": "ZNF692",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
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"exon_count": 12,
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"gene_symbol": "ZNF692",
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"transcript": "ENST00000412341.6",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000412341.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"exon_count": 8,
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"gene_symbol": "ZNF692",
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
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"3_prime_UTR_variant"
],
"exon_rank": 4,
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"exon_count": 5,
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"gene_symbol": "ZNF692",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000482023.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 9,
"intron_rank": 8,
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"gene_symbol": "ZNF692",
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"hgvs_c": "n.1310-236G>A",
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"transcript": "ENST00000470787.6",
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"transcript_support_level": 2,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470787.6"
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],
"gene_symbol": "ZNF692",
"gene_hgnc_id": 26049,
"dbsnp": "rs751034714",
"frequency_reference_population": 0.000010532995,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000109449,
"gnomad_genomes_af": 0.00000657445,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.46101319789886475,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.211,
"revel_prediction": "Benign",
"alphamissense_score": 0.5087,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.475,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001136036.3",
"gene_symbol": "ZNF692",
"hgnc_id": 26049,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Ala400Thr"
}
],
"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
}