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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: 7-44114826-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44114826&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 44114826,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006230.4",
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "NM_006230.4",
"protein_id": "NP_006221.3",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000610533.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006230.4"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "ENST00000610533.6",
"protein_id": "ENSP00000480186.2",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006230.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610533.6"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "ENST00000452185.5",
"protein_id": "ENSP00000395231.1",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452185.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Ala466Thr",
"transcript": "ENST00000881309.1",
"protein_id": "ENSP00000551368.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 478,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881309.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Ala466Thr",
"transcript": "ENST00000964235.1",
"protein_id": "ENSP00000634294.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 478,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964235.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "NM_001127218.3",
"protein_id": "NP_001120690.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127218.3"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "NM_001256879.2",
"protein_id": "NP_001243808.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256879.2"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "ENST00000406581.6",
"protein_id": "ENSP00000386105.2",
"transcript_support_level": 2,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406581.6"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "ENST00000418438.2",
"protein_id": "ENSP00000406702.2",
"transcript_support_level": 4,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418438.2"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "ENST00000698945.1",
"protein_id": "ENSP00000514051.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698945.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "ENST00000698946.1",
"protein_id": "ENSP00000514052.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698946.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "ENST00000698947.1",
"protein_id": "ENSP00000514053.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698947.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "ENST00000881299.1",
"protein_id": "ENSP00000551358.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881299.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "ENST00000881300.1",
"protein_id": "ENSP00000551359.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881300.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "ENST00000881304.1",
"protein_id": "ENSP00000551363.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881304.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "ENST00000881305.1",
"protein_id": "ENSP00000551364.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881305.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "ENST00000881316.1",
"protein_id": "ENSP00000551375.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881316.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "ENST00000881321.1",
"protein_id": "ENSP00000551380.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881321.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "ENST00000881322.1",
"protein_id": "ENSP00000551381.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881322.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "ENST00000881323.1",
"protein_id": "ENSP00000551382.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881323.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "ENST00000931682.1",
"protein_id": "ENSP00000601741.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931682.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr",
"transcript": "ENST00000931684.1",
"protein_id": "ENSP00000601743.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
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],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "POLD2",
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"hgvs_c": "n.*1797G>A",
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"transcript": "ENST00000698977.1",
"protein_id": "ENSP00000514064.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698977.1"
},
{
"aa_ref": null,
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"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": "POLD2",
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"hgvs_c": "n.*317G>A",
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"transcript": "ENST00000698978.1",
"protein_id": "ENSP00000514065.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698978.1"
},
{
"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": "POLD2",
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"hgvs_c": "n.*317G>A",
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"transcript": "ENST00000698979.1",
"protein_id": "ENSP00000514066.1",
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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,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698979.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "n.*898G>A",
"hgvs_p": null,
"transcript": "ENST00000698982.1",
"protein_id": "ENSP00000514067.1",
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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,
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"cdna_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698982.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
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"hgvs_c": "n.*670G>A",
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"transcript": "ENST00000698989.1",
"protein_id": "ENSP00000514069.1",
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"aa_end": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000698989.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "n.*16G>A",
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"transcript": "ENST00000698992.1",
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"cds_start": null,
"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": "ENST00000698992.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"hgvs_c": "n.*17G>A",
"hgvs_p": null,
"transcript": "ENST00000698993.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000698993.1"
}
],
"gene_symbol": "POLD2",
"gene_hgnc_id": 9176,
"dbsnp": "rs369784008",
"frequency_reference_population": 0.0000061968617,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000547396,
"gnomad_genomes_af": 0.0000131359,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16788506507873535,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.08,
"revel_prediction": "Benign",
"alphamissense_score": 0.0727,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.587,
"phylop100way_prediction": "Uncertain_significance",
"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_006230.4",
"gene_symbol": "POLD2",
"hgnc_id": 9176,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Ala457Thr"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}