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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: 12-9149576-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=9149576&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 9149576,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002864.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.4411G>A",
"hgvs_p": "p.Ala1471Thr",
"transcript": "NM_002864.3",
"protein_id": "NP_002855.2",
"transcript_support_level": null,
"aa_start": 1471,
"aa_end": null,
"aa_length": 1482,
"cds_start": 4411,
"cds_end": null,
"cds_length": 4449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261336.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002864.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.4411G>A",
"hgvs_p": "p.Ala1471Thr",
"transcript": "ENST00000261336.7",
"protein_id": "ENSP00000261336.2",
"transcript_support_level": 1,
"aa_start": 1471,
"aa_end": null,
"aa_length": 1482,
"cds_start": 4411,
"cds_end": null,
"cds_length": 4449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002864.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261336.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "n.*3880G>A",
"hgvs_p": null,
"transcript": "ENST00000535230.5",
"protein_id": "ENSP00000440811.1",
"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": "ENST00000535230.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "n.*3880G>A",
"hgvs_p": null,
"transcript": "ENST00000535230.5",
"protein_id": "ENSP00000440811.1",
"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": "ENST00000535230.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.4441G>A",
"hgvs_p": "p.Ala1481Thr",
"transcript": "ENST00000882540.1",
"protein_id": "ENSP00000552599.1",
"transcript_support_level": null,
"aa_start": 1481,
"aa_end": null,
"aa_length": 1492,
"cds_start": 4441,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882540.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.4408G>A",
"hgvs_p": "p.Ala1470Thr",
"transcript": "ENST00000882539.1",
"protein_id": "ENSP00000552598.1",
"transcript_support_level": null,
"aa_start": 1470,
"aa_end": null,
"aa_length": 1481,
"cds_start": 4408,
"cds_end": null,
"cds_length": 4446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882539.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.4327G>A",
"hgvs_p": "p.Ala1443Thr",
"transcript": "ENST00000882538.1",
"protein_id": "ENSP00000552597.1",
"transcript_support_level": null,
"aa_start": 1443,
"aa_end": null,
"aa_length": 1454,
"cds_start": 4327,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882538.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.4192G>A",
"hgvs_p": "p.Ala1398Thr",
"transcript": "ENST00000882536.1",
"protein_id": "ENSP00000552595.1",
"transcript_support_level": null,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1409,
"cds_start": 4192,
"cds_end": null,
"cds_length": 4230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882536.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.4162G>A",
"hgvs_p": "p.Ala1388Thr",
"transcript": "ENST00000882537.1",
"protein_id": "ENSP00000552596.1",
"transcript_support_level": null,
"aa_start": 1388,
"aa_end": null,
"aa_length": 1399,
"cds_start": 4162,
"cds_end": null,
"cds_length": 4200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882537.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.4411G>A",
"hgvs_p": "p.Ala1471Thr",
"transcript": "XM_017019764.2",
"protein_id": "XP_016875253.1",
"transcript_support_level": null,
"aa_start": 1471,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4411,
"cds_end": null,
"cds_length": 4467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019764.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.3769G>A",
"hgvs_p": "p.Ala1257Thr",
"transcript": "XM_024449111.1",
"protein_id": "XP_024304879.1",
"transcript_support_level": null,
"aa_start": 1257,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3769,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449111.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.4384+1068G>A",
"hgvs_p": null,
"transcript": "XM_017019763.2",
"protein_id": "XP_016875252.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": null,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019763.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.4135+1068G>A",
"hgvs_p": null,
"transcript": "XM_047429274.1",
"protein_id": "XP_047285230.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1417,
"cds_start": null,
"cds_end": null,
"cds_length": 4254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429274.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.2347+1068G>A",
"hgvs_p": null,
"transcript": "XM_047429275.1",
"protein_id": "XP_047285231.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 821,
"cds_start": null,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429275.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"hgvs_c": "c.2344+1068G>A",
"hgvs_p": null,
"transcript": "XM_047429276.1",
"protein_id": "XP_047285232.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 820,
"cds_start": null,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429276.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KLRG1",
"gene_hgnc_id": 6380,
"hgvs_c": "c.*34-65700C>T",
"hgvs_p": null,
"transcript": "XM_017018685.2",
"protein_id": "XP_016874174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": null,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018685.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "KLRG1",
"gene_hgnc_id": 6380,
"hgvs_c": "c.*34-44479C>T",
"hgvs_p": null,
"transcript": "XM_047428074.1",
"protein_id": "XP_047284030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": null,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428074.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINC00987",
"gene_hgnc_id": 48911,
"hgvs_c": "n.98+4503C>T",
"hgvs_p": null,
"transcript": "ENST00000838855.1",
"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": "ENST00000838855.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINC00987",
"gene_hgnc_id": 48911,
"hgvs_c": "n.143+4503C>T",
"hgvs_p": null,
"transcript": "ENST00000838856.1",
"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": "ENST00000838856.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00987",
"gene_hgnc_id": 48911,
"hgvs_c": "n.142+2072C>T",
"hgvs_p": null,
"transcript": "ENST00000838857.1",
"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": "ENST00000838857.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00987",
"gene_hgnc_id": 48911,
"hgvs_c": "n.142+2072C>T",
"hgvs_p": null,
"transcript": "ENST00000838858.1",
"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": "ENST00000838858.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LINC00987",
"gene_hgnc_id": 48911,
"hgvs_c": "n.100+4503C>T",
"hgvs_p": null,
"transcript": "ENST00000838859.1",
"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": "ENST00000838859.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "LINC00987",
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"biotype": "pseudogene",
"feature": "ENST00000838879.1"
},
{
"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": 3,
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"gene_symbol": "LINC00987",
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},
{
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"protein_coding": false,
"strand": true,
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],
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"exon_count": 2,
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"gene_symbol": "LINC00987",
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"biotype": "pseudogene",
"feature": "ENST00000838881.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
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"gene_symbol": "LINC00987",
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"hgvs_c": "n.268+2072C>T",
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"transcript": "ENST00000838882.1",
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"biotype": "pseudogene",
"feature": "ENST00000838882.1"
},
{
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"strand": true,
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"intron_variant"
],
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"exon_count": 2,
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"gene_symbol": "ENSG00000309149",
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"biotype": "pseudogene",
"feature": "ENST00000839051.1"
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],
"gene_symbol": "PZP",
"gene_hgnc_id": 9750,
"dbsnp": "rs769865530",
"frequency_reference_population": 0.00001861645,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000198652,
"gnomad_genomes_af": 0.00000659465,
"gnomad_exomes_ac": 29,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16706061363220215,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.048,
"revel_prediction": "Benign",
"alphamissense_score": 0.1133,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.05,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002864.3",
"gene_symbol": "PZP",
"hgnc_id": 9750,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4411G>A",
"hgvs_p": "p.Ala1471Thr"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000838855.1",
"gene_symbol": "LINC00987",
"hgnc_id": 48911,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.98+4503C>T",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000839051.1",
"gene_symbol": "ENSG00000309149",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.336-3923C>T",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XM_017018685.2",
"gene_symbol": "KLRG1",
"hgnc_id": 6380,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*34-65700C>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
}