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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: 1-156906303-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156906303&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156906303,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001080471.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Gly112Asp",
"transcript": "NM_001080471.3",
"protein_id": "NP_001073940.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1037,
"cds_start": 335,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292357.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080471.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Gly112Asp",
"transcript": "ENST00000292357.8",
"protein_id": "ENSP00000292357.7",
"transcript_support_level": 5,
"aa_start": 112,
"aa_end": null,
"aa_length": 1037,
"cds_start": 335,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001080471.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292357.8"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Gly121Asp",
"transcript": "ENST00000971373.1",
"protein_id": "ENSP00000641432.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1046,
"cds_start": 362,
"cds_end": null,
"cds_length": 3141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971373.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Gly112Asp",
"transcript": "ENST00000338302.7",
"protein_id": "ENSP00000344465.3",
"transcript_support_level": 5,
"aa_start": 112,
"aa_end": null,
"aa_length": 1037,
"cds_start": 335,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338302.7"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Gly112Asp",
"transcript": "ENST00000858321.1",
"protein_id": "ENSP00000528380.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1037,
"cds_start": 335,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858321.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Gly112Asp",
"transcript": "ENST00000858323.1",
"protein_id": "ENSP00000528382.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1037,
"cds_start": 335,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858323.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Gly112Asp",
"transcript": "ENST00000858325.1",
"protein_id": "ENSP00000528384.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1037,
"cds_start": 335,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858325.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Gly112Asp",
"transcript": "ENST00000858326.1",
"protein_id": "ENSP00000528385.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1037,
"cds_start": 335,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858326.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Gly112Asp",
"transcript": "ENST00000858324.1",
"protein_id": "ENSP00000528383.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1036,
"cds_start": 335,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858324.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Gly77Asp",
"transcript": "ENST00000858322.1",
"protein_id": "ENSP00000528381.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 1002,
"cds_start": 230,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858322.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Gly48Asp",
"transcript": "NM_001353682.2",
"protein_id": "NP_001340611.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 973,
"cds_start": 143,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353682.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Gly48Asp",
"transcript": "NM_001353683.2",
"protein_id": "NP_001340612.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 973,
"cds_start": 143,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353683.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Gly112Asp",
"transcript": "ENST00000455314.5",
"protein_id": "ENSP00000389742.1",
"transcript_support_level": 2,
"aa_start": 112,
"aa_end": null,
"aa_length": 172,
"cds_start": 335,
"cds_end": null,
"cds_length": 520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455314.5"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Gly200Asp",
"transcript": "XM_017001234.3",
"protein_id": "XP_016856723.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1125,
"cds_start": 599,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001234.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Gly200Asp",
"transcript": "XM_017001235.3",
"protein_id": "XP_016856724.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1081,
"cds_start": 599,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001235.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Gly112Asp",
"transcript": "XM_005245141.4",
"protein_id": "XP_005245198.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1037,
"cds_start": 335,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005245141.4"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Gly112Asp",
"transcript": "XM_011509510.3",
"protein_id": "XP_011507812.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1037,
"cds_start": 335,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509510.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Gly112Asp",
"transcript": "XM_017001236.2",
"protein_id": "XP_016856725.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1037,
"cds_start": 335,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001236.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Gly112Asp",
"transcript": "XM_047419722.1",
"protein_id": "XP_047275678.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1037,
"cds_start": 335,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419722.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Gly77Asp",
"transcript": "XM_011509511.3",
"protein_id": "XP_011507813.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 1002,
"cds_start": 230,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509511.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Gly48Asp",
"transcript": "XM_017001239.2",
"protein_id": "XP_016856728.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 973,
"cds_start": 143,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001239.2"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.143G>A",
"hgvs_p": "p.Gly48Asp",
"transcript": "XM_047419737.1",
"protein_id": "XP_047275693.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 973,
"cds_start": 143,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419737.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 3,
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"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "PEAR1",
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"aa_start": 21,
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"aa_length": 909,
"cds_start": 61,
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"cds_length": 2730,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001240.1"
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
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"hgvs_c": "c.61G>A",
"hgvs_p": "p.Ala21Thr",
"transcript": "XM_017001241.1",
"protein_id": "XP_016856730.1",
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"aa_start": 21,
"aa_end": null,
"aa_length": 909,
"cds_start": 61,
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"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001241.1"
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
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"hgvs_c": "c.61G>A",
"hgvs_p": "p.Ala21Thr",
"transcript": "XM_017001242.2",
"protein_id": "XP_016856731.1",
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"aa_start": 21,
"aa_end": null,
"aa_length": 909,
"cds_start": 61,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001242.2"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
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"hgvs_c": "n.*156G>A",
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"transcript": "ENST00000444016.5",
"protein_id": "ENSP00000397870.1",
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"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": "ENST00000444016.5"
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{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "n.*156G>A",
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"transcript": "ENST00000444016.5",
"protein_id": "ENSP00000397870.1",
"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": "ENST00000444016.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "n.-14G>A",
"hgvs_p": null,
"transcript": "ENST00000469390.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000469390.5"
}
],
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"dbsnp": "rs1425531389",
"frequency_reference_population": 0.0000047884073,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000478841,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8403173685073853,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.476,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9169,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.949,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001080471.3",
"gene_symbol": "PEAR1",
"hgnc_id": 33631,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Gly112Asp"
}
],
"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
}