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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: 18-54269605-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=54269605&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 54269605,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_007195.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Asp20Gly",
"transcript": "NM_007195.3",
"protein_id": "NP_009126.2",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 740,
"cds_start": 59,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000579534.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007195.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Asp20Gly",
"transcript": "ENST00000579534.6",
"protein_id": "ENSP00000462664.1",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 740,
"cds_start": 59,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007195.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579534.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.-496A>G",
"hgvs_p": null,
"transcript": "ENST00000579434.5",
"protein_id": "ENSP00000462681.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": null,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579434.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Asp20Gly",
"transcript": "NM_001351610.1",
"protein_id": "NP_001338539.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 698,
"cds_start": 59,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351610.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Asp20Gly",
"transcript": "ENST00000930897.1",
"protein_id": "ENSP00000600956.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 689,
"cds_start": 59,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930897.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Asp20Gly",
"transcript": "NM_001351613.1",
"protein_id": "NP_001338542.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 661,
"cds_start": 59,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351613.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Asp20Gly",
"transcript": "ENST00000406285.7",
"protein_id": "ENSP00000385196.3",
"transcript_support_level": 2,
"aa_start": 20,
"aa_end": null,
"aa_length": 661,
"cds_start": 59,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406285.7"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Asp20Gly",
"transcript": "ENST00000854650.1",
"protein_id": "ENSP00000524709.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 643,
"cds_start": 59,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854650.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Asp20Gly",
"transcript": "NM_001351616.1",
"protein_id": "NP_001338545.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 619,
"cds_start": 59,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351616.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Asp20Gly",
"transcript": "ENST00000941394.1",
"protein_id": "ENSP00000611453.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 619,
"cds_start": 59,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941394.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Asp20Gly",
"transcript": "ENST00000854649.1",
"protein_id": "ENSP00000524708.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 570,
"cds_start": 59,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854649.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Asp20Gly",
"transcript": "NM_001351621.1",
"protein_id": "NP_001338550.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 430,
"cds_start": 59,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351621.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.53A>G",
"hgvs_p": "p.Asp18Gly",
"transcript": "ENST00000577612.5",
"protein_id": "ENSP00000464025.1",
"transcript_support_level": 3,
"aa_start": 18,
"aa_end": null,
"aa_length": 193,
"cds_start": 53,
"cds_end": null,
"cds_length": 583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577612.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Asp20Gly",
"transcript": "XM_011525797.2",
"protein_id": "XP_011524099.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 430,
"cds_start": 59,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525797.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Asp20Gly",
"transcript": "XM_005258192.5",
"protein_id": "XP_005258249.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 401,
"cds_start": 59,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258192.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.-17A>G",
"hgvs_p": null,
"transcript": "NM_001351632.2",
"protein_id": "NP_001338561.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": null,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351632.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.-184A>G",
"hgvs_p": null,
"transcript": "NM_001351611.2",
"protein_id": "NP_001338540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 672,
"cds_start": null,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351611.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.-517A>G",
"hgvs_p": null,
"transcript": "NM_001351612.2",
"protein_id": "NP_001338541.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 672,
"cds_start": null,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351612.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.-163A>G",
"hgvs_p": null,
"transcript": "NM_001351614.2",
"protein_id": "NP_001338543.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": null,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351614.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.-496A>G",
"hgvs_p": null,
"transcript": "NM_001351615.2",
"protein_id": "NP_001338544.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": null,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351615.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.-357A>G",
"hgvs_p": null,
"transcript": "NM_001351617.2",
"protein_id": "NP_001338546.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 559,
"cds_start": null,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351617.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.-483A>G",
"hgvs_p": null,
"transcript": "NM_001351618.2",
"protein_id": "NP_001338547.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 559,
"cds_start": null,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351618.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
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},
{
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"canonical": false,
"protein_coding": true,
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},
{
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 5,
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"gene_symbol": "POLI",
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"biotype": "retained_intron",
"feature": "ENST00000577971.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"biotype": "pseudogene",
"feature": "ENST00000621167.1"
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{
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"strand": true,
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"gene_symbol": "POLI",
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"transcript": "NR_147257.1",
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"feature": "NR_147257.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
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"gene_symbol": "ENSG00000277324",
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"transcript": "ENST00000756323.1",
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"biotype": "pseudogene",
"feature": "ENST00000756323.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
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"gene_symbol": "LOC124904307",
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"hgvs_c": "n.80+221T>C",
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"transcript": "XR_007066379.1",
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"biotype": "pseudogene",
"feature": "XR_007066379.1"
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],
"gene_symbol": "POLI",
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"dbsnp": "rs748735279",
"frequency_reference_population": 0.000019974354,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000192619,
"gnomad_genomes_af": 0.0000262961,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06531497836112976,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.094,
"revel_prediction": "Benign",
"alphamissense_score": 0.0869,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.847,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_007195.3",
"gene_symbol": "POLI",
"hgnc_id": 9182,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.Asp20Gly"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000621167.1",
"gene_symbol": "ENSG00000277324",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.424T>C",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007066379.1",
"gene_symbol": "LOC124904307",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.80+221T>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
}