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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: 12-19257457-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=19257457&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 19257457,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001256470.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "NM_001256470.2",
"protein_id": "NP_001243399.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1282,
"cds_start": 457,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000429027.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256470.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "ENST00000429027.7",
"protein_id": "ENSP00000404296.2",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 1282,
"cds_start": 457,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001256470.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429027.7"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "ENST00000538714.5",
"protein_id": "ENSP00000439673.1",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 1174,
"cds_start": 457,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538714.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "ENST00000299275.10",
"protein_id": "ENSP00000299275.6",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 1116,
"cds_start": 457,
"cds_end": null,
"cds_length": 3351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299275.10"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "NM_001385923.1",
"protein_id": "NP_001372852.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1276,
"cds_start": 457,
"cds_end": null,
"cds_length": 3831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385923.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "NM_001385924.1",
"protein_id": "NP_001372853.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1270,
"cds_start": 457,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385924.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "ENST00000954865.1",
"protein_id": "ENSP00000624924.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1270,
"cds_start": 457,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954865.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "NM_001385925.1",
"protein_id": "NP_001372854.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1264,
"cds_start": 457,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385925.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "NM_001385926.1",
"protein_id": "NP_001372855.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1262,
"cds_start": 457,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385926.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "NM_001385927.1",
"protein_id": "NP_001372856.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1242,
"cds_start": 457,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385927.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "NM_001385928.1",
"protein_id": "NP_001372857.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1226,
"cds_start": 457,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385928.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "NM_001385929.1",
"protein_id": "NP_001372858.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1219,
"cds_start": 457,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385929.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "NM_001385930.1",
"protein_id": "NP_001372859.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1213,
"cds_start": 457,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385930.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "NM_001385931.1",
"protein_id": "NP_001372860.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1207,
"cds_start": 457,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385931.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "ENST00000954868.1",
"protein_id": "ENSP00000624927.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1207,
"cds_start": 457,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954868.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "ENST00000954869.1",
"protein_id": "ENSP00000624928.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1197,
"cds_start": 457,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954869.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "NM_001385932.1",
"protein_id": "NP_001372861.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1179,
"cds_start": 457,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385932.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "ENST00000930146.1",
"protein_id": "ENSP00000600205.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1179,
"cds_start": 457,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930146.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "NM_001143821.3",
"protein_id": "NP_001137293.2",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1174,
"cds_start": 457,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143821.3"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.133C>T",
"hgvs_p": "p.His45Tyr",
"transcript": "NM_001385933.1",
"protein_id": "NP_001372862.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1174,
"cds_start": 133,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385933.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "NM_001385968.1",
"protein_id": "NP_001372897.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1174,
"cds_start": 457,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385968.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr",
"transcript": "ENST00000954870.1",
"protein_id": "ENSP00000624929.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1174,
"cds_start": 457,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "NR_169817.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
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"hgvs_c": "n.524C>T",
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"transcript": "NR_169818.1",
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "NR_169818.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
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"hgvs_c": "n.524C>T",
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"transcript": "NR_169819.1",
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169819.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
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"gene_symbol": "PLEKHA5",
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"hgvs_c": "n.524C>T",
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"transcript": "NR_169820.1",
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"aa_length": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_169820.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
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"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
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"hgvs_c": "n.524C>T",
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"transcript": "NR_169821.1",
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"biotype": "pseudogene",
"feature": "NR_169821.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
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"hgvs_c": "n.-17C>T",
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"transcript": "ENST00000510738.2",
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"transcript_support_level": 1,
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"aa_end": null,
"aa_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000510738.2"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "n.*14C>T",
"hgvs_p": null,
"transcript": "ENST00000538034.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000538034.5"
}
],
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"dbsnp": null,
"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": 0.6122643947601318,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.373,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8691,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.382,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001256470.2",
"gene_symbol": "PLEKHA5",
"hgnc_id": 30036,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.457C>T",
"hgvs_p": "p.His153Tyr"
}
],
"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
}