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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: 11-45934034-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=45934034&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 45934034,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001441167.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1980G>A",
"hgvs_p": "p.Thr660Thr",
"transcript": "NM_001352027.3",
"protein_id": "NP_001338956.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 681,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000676320.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352027.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1980G>A",
"hgvs_p": "p.Thr660Thr",
"transcript": "ENST00000676320.1",
"protein_id": "ENSP00000502222.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 681,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001352027.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676320.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1839G>A",
"hgvs_p": "p.Thr613Thr",
"transcript": "ENST00000323180.10",
"protein_id": "ENSP00000323152.6",
"transcript_support_level": 1,
"aa_start": 613,
"aa_end": null,
"aa_length": 634,
"cds_start": 1839,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323180.10"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.2001G>A",
"hgvs_p": "p.Thr667Thr",
"transcript": "NM_001441167.1",
"protein_id": "NP_001428096.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 688,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441167.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.2001G>A",
"hgvs_p": "p.Thr667Thr",
"transcript": "NM_001441168.1",
"protein_id": "NP_001428097.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 688,
"cds_start": 2001,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441168.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1998G>A",
"hgvs_p": "p.Thr666Thr",
"transcript": "NM_001441169.1",
"protein_id": "NP_001428098.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 687,
"cds_start": 1998,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441169.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1998G>A",
"hgvs_p": "p.Thr666Thr",
"transcript": "ENST00000863274.1",
"protein_id": "ENSP00000533333.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 687,
"cds_start": 1998,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863274.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1980G>A",
"hgvs_p": "p.Thr660Thr",
"transcript": "NM_001352025.3",
"protein_id": "NP_001338954.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 681,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352025.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1980G>A",
"hgvs_p": "p.Thr660Thr",
"transcript": "NM_001352026.3",
"protein_id": "NP_001338955.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 681,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352026.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1980G>A",
"hgvs_p": "p.Thr660Thr",
"transcript": "NM_001441170.1",
"protein_id": "NP_001428099.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 681,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441170.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1980G>A",
"hgvs_p": "p.Thr660Thr",
"transcript": "ENST00000863261.1",
"protein_id": "ENSP00000533320.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 681,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863261.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1980G>A",
"hgvs_p": "p.Thr660Thr",
"transcript": "ENST00000863264.1",
"protein_id": "ENSP00000533323.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 681,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863264.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1980G>A",
"hgvs_p": "p.Thr660Thr",
"transcript": "ENST00000863265.1",
"protein_id": "ENSP00000533324.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 681,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863265.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1980G>A",
"hgvs_p": "p.Thr660Thr",
"transcript": "ENST00000863267.1",
"protein_id": "ENSP00000533326.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 681,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863267.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1980G>A",
"hgvs_p": "p.Thr660Thr",
"transcript": "ENST00000863273.1",
"protein_id": "ENSP00000533332.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 681,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863273.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1980G>A",
"hgvs_p": "p.Thr660Thr",
"transcript": "ENST00000863276.1",
"protein_id": "ENSP00000533335.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 681,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863276.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1980G>A",
"hgvs_p": "p.Thr660Thr",
"transcript": "ENST00000863279.1",
"protein_id": "ENSP00000533338.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 681,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863279.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1980G>A",
"hgvs_p": "p.Thr660Thr",
"transcript": "ENST00000863283.1",
"protein_id": "ENSP00000533342.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 681,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863283.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1980G>A",
"hgvs_p": "p.Thr660Thr",
"transcript": "ENST00000939559.1",
"protein_id": "ENSP00000609618.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 681,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939559.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1980G>A",
"hgvs_p": "p.Thr660Thr",
"transcript": "ENST00000939560.1",
"protein_id": "ENSP00000609619.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 681,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939560.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1980G>A",
"hgvs_p": "p.Thr660Thr",
"transcript": "ENST00000939561.1",
"protein_id": "ENSP00000609620.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 681,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939561.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1977G>A",
"hgvs_p": "p.Thr659Thr",
"transcript": "NM_001101802.3",
"protein_id": "NP_001095272.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 680,
"cds_start": 1977,
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"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "n.3010G>A",
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"transcript": "ENST00000692878.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000692878.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
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"gene_symbol": "PHF21A",
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"hgvs_c": "n.*1829G>A",
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"transcript": "ENST00000693049.1",
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"aa_end": null,
"aa_length": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000693049.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "n.2609G>A",
"hgvs_p": null,
"transcript": "NR_147890.3",
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"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": "pseudogene",
"feature": "NR_147890.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "n.2719G>A",
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"transcript": "NR_165446.1",
"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": "pseudogene",
"feature": "NR_165446.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
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"hgvs_c": "n.*255G>A",
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"transcript": "ENST00000530587.6",
"protein_id": "ENSP00000435984.2",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000530587.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
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"exon_count": 20,
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"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "n.*1829G>A",
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"transcript": "ENST00000693049.1",
"protein_id": "ENSP00000510131.1",
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"cdna_end": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000693049.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "n.*99G>A",
"hgvs_p": null,
"transcript": "ENST00000686153.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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"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": "ENST00000686153.1"
}
],
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"dbsnp": "rs144966693",
"frequency_reference_population": 0.0005618925,
"hom_count_reference_population": 2,
"allele_count_reference_population": 906,
"gnomad_exomes_af": 0.000586885,
"gnomad_genomes_af": 0.000322038,
"gnomad_exomes_ac": 857,
"gnomad_genomes_ac": 49,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3799999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.293,
"phylop100way_prediction": "Benign",
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001441167.1",
"gene_symbol": "PHF21A",
"hgnc_id": 24156,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2001G>A",
"hgvs_p": "p.Thr667Thr"
}
],
"clinvar_disease": "PHF21A-related disorder,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|PHF21A-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}