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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: 14-35085673-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=35085673&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 35085673,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017917.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"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": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.1279T>A",
"hgvs_p": "p.Leu427Met",
"transcript": "NM_017917.4",
"protein_id": "NP_060387.2",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 453,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261475.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017917.4"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"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": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.1279T>A",
"hgvs_p": "p.Leu427Met",
"transcript": "ENST00000261475.10",
"protein_id": "ENSP00000261475.5",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 453,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017917.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261475.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "n.*945T>A",
"hgvs_p": null,
"transcript": "ENST00000553273.5",
"protein_id": "ENSP00000451075.1",
"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": "ENST00000553273.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "n.*1082T>A",
"hgvs_p": null,
"transcript": "ENST00000557217.5",
"protein_id": "ENSP00000452436.1",
"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": "ENST00000557217.5"
},
{
"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": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "n.*945T>A",
"hgvs_p": null,
"transcript": "ENST00000553273.5",
"protein_id": "ENSP00000451075.1",
"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": "ENST00000553273.5"
},
{
"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": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "n.*1082T>A",
"hgvs_p": null,
"transcript": "ENST00000557217.5",
"protein_id": "ENSP00000452436.1",
"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": "ENST00000557217.5"
},
{
"aa_ref": "L",
"aa_alt": "M",
"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": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.1300T>A",
"hgvs_p": "p.Leu434Met",
"transcript": "ENST00000892731.1",
"protein_id": "ENSP00000562790.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 460,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892731.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.1249T>A",
"hgvs_p": "p.Leu417Met",
"transcript": "ENST00000928308.1",
"protein_id": "ENSP00000598367.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 443,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928308.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"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": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.997T>A",
"hgvs_p": "p.Leu333Met",
"transcript": "ENST00000928307.1",
"protein_id": "ENSP00000598366.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 359,
"cds_start": 997,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928307.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"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": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.997T>A",
"hgvs_p": "p.Leu333Met",
"transcript": "ENST00000955603.1",
"protein_id": "ENSP00000625662.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 359,
"cds_start": 997,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955603.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"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": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.949T>A",
"hgvs_p": "p.Leu317Met",
"transcript": "NM_001305155.2",
"protein_id": "NP_001292084.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 343,
"cds_start": 949,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305155.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"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": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.949T>A",
"hgvs_p": "p.Leu317Met",
"transcript": "NM_001305156.2",
"protein_id": "NP_001292085.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 343,
"cds_start": 949,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305156.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.865T>A",
"hgvs_p": "p.Leu289Met",
"transcript": "ENST00000928309.1",
"protein_id": "ENSP00000598368.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 315,
"cds_start": 865,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928309.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.490T>A",
"hgvs_p": "p.Leu164Met",
"transcript": "ENST00000928310.1",
"protein_id": "ENSP00000598369.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 190,
"cds_start": 490,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928310.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.304T>A",
"hgvs_p": "p.Leu102Met",
"transcript": "ENST00000555219.1",
"protein_id": "ENSP00000452173.1",
"transcript_support_level": 3,
"aa_start": 102,
"aa_end": null,
"aa_length": 128,
"cds_start": 304,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555219.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.1279T>A",
"hgvs_p": "p.Leu427Met",
"transcript": "XM_005267782.5",
"protein_id": "XP_005267839.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 453,
"cds_start": 1279,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267782.5"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.1186T>A",
"hgvs_p": "p.Leu396Met",
"transcript": "XM_024449638.2",
"protein_id": "XP_024305406.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 422,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449638.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"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": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "c.1123T>A",
"hgvs_p": "p.Leu375Met",
"transcript": "XM_024449639.2",
"protein_id": "XP_024305407.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 401,
"cds_start": 1123,
"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_024449639.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "n.*1082T>A",
"hgvs_p": null,
"transcript": "ENST00000554222.5",
"protein_id": "ENSP00000451416.1",
"transcript_support_level": 2,
"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": "ENST00000554222.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "n.*172T>A",
"hgvs_p": null,
"transcript": "ENST00000557074.1",
"protein_id": "ENSP00000450649.1",
"transcript_support_level": 3,
"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": "ENST00000557074.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "n.1233T>A",
"hgvs_p": null,
"transcript": "NR_130972.2",
"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_130972.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"hgvs_c": "n.*1082T>A",
"hgvs_p": null,
"transcript": "ENST00000554222.5",
"protein_id": "ENSP00000451416.1",
"transcript_support_level": 2,
"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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"feature": "ENST00000554222.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 3,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "PPP2R3C",
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"transcript": "ENST00000557074.1",
"protein_id": "ENSP00000450649.1",
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"feature": "ENST00000557074.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "FAM177A1",
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"transcript": "ENST00000555260.1",
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"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555260.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 12,
"intron_rank": 7,
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"gene_symbol": "FAM177A1",
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"transcript": "ENST00000699514.1",
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"aa_end": null,
"aa_length": null,
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"cdna_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699514.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 12,
"intron_rank": 6,
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"gene_symbol": "FAM177A1",
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"hgvs_c": "n.*331+4114A>T",
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"transcript": "ENST00000699515.1",
"protein_id": "ENSP00000514410.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699515.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "LOC101927178",
"gene_hgnc_id": null,
"hgvs_c": "n.479+4114A>T",
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"transcript": "NR_110415.1",
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"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_110415.1"
}
],
"gene_symbol": "PPP2R3C",
"gene_hgnc_id": 17485,
"dbsnp": "rs1384540937",
"frequency_reference_population": 6.8435685e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84357e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3420732021331787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.353,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.308,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.819,
"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": 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_017917.4",
"gene_symbol": "PPP2R3C",
"hgnc_id": 17485,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1279T>A",
"hgvs_p": "p.Leu427Met"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000555260.1",
"gene_symbol": "FAM177A1",
"hgnc_id": 19829,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*331+4114A>T",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NR_110415.1",
"gene_symbol": "LOC101927178",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.479+4114A>T",
"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
}