← Back to variant description
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: 20-63869374-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63869374&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 63869374,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_199360.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "NM_003288.4",
"protein_id": "NP_003279.2",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 206,
"cds_start": 98,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000346249.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003288.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "ENST00000346249.9",
"protein_id": "ENSP00000343547.4",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 206,
"cds_start": 98,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003288.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346249.9"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "ENST00000352482.8",
"protein_id": "ENSP00000344647.4",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 220,
"cds_start": 98,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352482.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "ENST00000348257.9",
"protein_id": "ENSP00000343554.5",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 186,
"cds_start": 98,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348257.9"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "ENST00000941625.1",
"protein_id": "ENSP00000611684.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 294,
"cds_start": 98,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941625.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "NM_199360.3",
"protein_id": "NP_955392.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 229,
"cds_start": 98,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199360.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "ENST00000217121.9",
"protein_id": "ENSP00000217121.5",
"transcript_support_level": 2,
"aa_start": 33,
"aa_end": null,
"aa_length": 229,
"cds_start": 98,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000217121.9"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "NM_001243895.2",
"protein_id": "NP_001230824.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 222,
"cds_start": 98,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243895.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "ENST00000615907.4",
"protein_id": "ENSP00000482024.1",
"transcript_support_level": 4,
"aa_start": 33,
"aa_end": null,
"aa_length": 222,
"cds_start": 98,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615907.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "ENST00000879324.1",
"protein_id": "ENSP00000549383.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 222,
"cds_start": 98,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879324.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "ENST00000938339.1",
"protein_id": "ENSP00000608398.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 221,
"cds_start": 98,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938339.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "NM_199362.3",
"protein_id": "NP_955394.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 220,
"cds_start": 98,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199362.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "ENST00000879322.1",
"protein_id": "ENSP00000549381.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 211,
"cds_start": 98,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879322.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "ENST00000941624.1",
"protein_id": "ENSP00000611683.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 210,
"cds_start": 98,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941624.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "NM_199361.3",
"protein_id": "NP_955393.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 209,
"cds_start": 98,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199361.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "ENST00000351424.8",
"protein_id": "ENSP00000340006.4",
"transcript_support_level": 2,
"aa_start": 33,
"aa_end": null,
"aa_length": 209,
"cds_start": 98,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351424.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "ENST00000938341.1",
"protein_id": "ENSP00000608400.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 204,
"cds_start": 98,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938341.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "ENST00000938343.1",
"protein_id": "ENSP00000608402.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 201,
"cds_start": 98,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938343.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "NM_199363.3",
"protein_id": "NP_955395.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 200,
"cds_start": 98,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199363.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "ENST00000358548.4",
"protein_id": "ENSP00000351350.4",
"transcript_support_level": 2,
"aa_start": 33,
"aa_end": null,
"aa_length": 200,
"cds_start": 98,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358548.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "ENST00000938344.1",
"protein_id": "ENSP00000608403.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 198,
"cds_start": 98,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938344.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "NM_199359.3",
"protein_id": "NP_955391.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 186,
"cds_start": 98,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199359.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "ENST00000938340.1",
"protein_id": "ENSP00000608399.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 184,
"cds_start": 98,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938340.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.29C>G",
"hgvs_p": "p.Ala10Gly",
"transcript": "ENST00000941623.1",
"protein_id": "ENSP00000611682.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 183,
"cds_start": 29,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941623.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "ENST00000879321.1",
"protein_id": "ENSP00000549380.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 172,
"cds_start": 98,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879321.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "ENST00000938342.1",
"protein_id": "ENSP00000608401.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 172,
"cds_start": 98,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938342.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.29C>G",
"hgvs_p": "p.Ala10Gly",
"transcript": "NM_001243892.2",
"protein_id": "NP_001230821.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 163,
"cds_start": 29,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243892.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.29C>G",
"hgvs_p": "p.Ala10Gly",
"transcript": "ENST00000369927.8",
"protein_id": "ENSP00000358943.2",
"transcript_support_level": 4,
"aa_start": 10,
"aa_end": null,
"aa_length": 163,
"cds_start": 29,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369927.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "NM_001243894.2",
"protein_id": "NP_001230823.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 152,
"cds_start": 98,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243894.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "ENST00000611972.4",
"protein_id": "ENSP00000482370.1",
"transcript_support_level": 3,
"aa_start": 33,
"aa_end": null,
"aa_length": 152,
"cds_start": 98,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611972.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly",
"transcript": "ENST00000938345.1",
"protein_id": "ENSP00000608404.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 126,
"cds_start": 98,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938345.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.90+8C>G",
"hgvs_p": null,
"transcript": "NM_001243891.2",
"protein_id": "NP_001230820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243891.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.90+8C>G",
"hgvs_p": null,
"transcript": "ENST00000879320.1",
"protein_id": "ENSP00000549379.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879320.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "c.90+8C>G",
"hgvs_p": null,
"transcript": "ENST00000879323.1",
"protein_id": "ENSP00000549382.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": null,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879323.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290226",
"gene_hgnc_id": null,
"hgvs_c": "n.135C>G",
"hgvs_p": null,
"transcript": "ENST00000703636.1",
"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": "ENST00000703636.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"hgvs_c": "n.194C>G",
"hgvs_p": null,
"transcript": "NR_045090.2",
"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_045090.2"
}
],
"gene_symbol": "TPD52L2",
"gene_hgnc_id": 12007,
"dbsnp": "rs750941637",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03622385859489441,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.108,
"revel_prediction": "Benign",
"alphamissense_score": 0.0726,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.657,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_199360.3",
"gene_symbol": "TPD52L2",
"hgnc_id": 12007,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.98C>G",
"hgvs_p": "p.Ala33Gly"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000703636.1",
"gene_symbol": "ENSG00000290226",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.135C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}