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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: 1-156907617-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156907617&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156907617,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001080471.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Val218Leu",
"transcript": "NM_001080471.3",
"protein_id": "NP_001073940.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 1037,
"cds_start": 652,
"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": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Val218Leu",
"transcript": "ENST00000292357.8",
"protein_id": "ENSP00000292357.7",
"transcript_support_level": 5,
"aa_start": 218,
"aa_end": null,
"aa_length": 1037,
"cds_start": 652,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.679G>C",
"hgvs_p": "p.Val227Leu",
"transcript": "ENST00000971373.1",
"protein_id": "ENSP00000641432.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 1046,
"cds_start": 679,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Val218Leu",
"transcript": "ENST00000338302.7",
"protein_id": "ENSP00000344465.3",
"transcript_support_level": 5,
"aa_start": 218,
"aa_end": null,
"aa_length": 1037,
"cds_start": 652,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Val218Leu",
"transcript": "ENST00000858321.1",
"protein_id": "ENSP00000528380.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 1037,
"cds_start": 652,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Val218Leu",
"transcript": "ENST00000858323.1",
"protein_id": "ENSP00000528382.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 1037,
"cds_start": 652,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Val218Leu",
"transcript": "ENST00000858325.1",
"protein_id": "ENSP00000528384.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 1037,
"cds_start": 652,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Val218Leu",
"transcript": "ENST00000858326.1",
"protein_id": "ENSP00000528385.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 1037,
"cds_start": 652,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Val218Leu",
"transcript": "ENST00000858324.1",
"protein_id": "ENSP00000528383.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 1036,
"cds_start": 652,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Val183Leu",
"transcript": "ENST00000858322.1",
"protein_id": "ENSP00000528381.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1002,
"cds_start": 547,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.460G>C",
"hgvs_p": "p.Val154Leu",
"transcript": "NM_001353682.2",
"protein_id": "NP_001340611.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 973,
"cds_start": 460,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.460G>C",
"hgvs_p": "p.Val154Leu",
"transcript": "NM_001353683.2",
"protein_id": "NP_001340612.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 973,
"cds_start": 460,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.916G>C",
"hgvs_p": "p.Val306Leu",
"transcript": "XM_017001234.3",
"protein_id": "XP_016856723.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 1125,
"cds_start": 916,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Val218Leu",
"transcript": "XM_005245141.4",
"protein_id": "XP_005245198.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 1037,
"cds_start": 652,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Val218Leu",
"transcript": "XM_011509510.3",
"protein_id": "XP_011507812.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 1037,
"cds_start": 652,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Val218Leu",
"transcript": "XM_017001236.2",
"protein_id": "XP_016856725.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 1037,
"cds_start": 652,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.652G>C",
"hgvs_p": "p.Val218Leu",
"transcript": "XM_047419722.1",
"protein_id": "XP_047275678.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 1037,
"cds_start": 652,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.547G>C",
"hgvs_p": "p.Val183Leu",
"transcript": "XM_011509511.3",
"protein_id": "XP_011507813.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 1002,
"cds_start": 547,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.460G>C",
"hgvs_p": "p.Val154Leu",
"transcript": "XM_017001239.2",
"protein_id": "XP_016856728.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 973,
"cds_start": 460,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.460G>C",
"hgvs_p": "p.Val154Leu",
"transcript": "XM_047419737.1",
"protein_id": "XP_047275693.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 973,
"cds_start": 460,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.268G>C",
"hgvs_p": "p.Val90Leu",
"transcript": "XM_017001240.1",
"protein_id": "XP_016856729.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 909,
"cds_start": 268,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001240.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.268G>C",
"hgvs_p": "p.Val90Leu",
"transcript": "XM_017001241.1",
"protein_id": "XP_016856730.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 909,
"cds_start": 268,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.7,
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"phylop100way_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001080471.3",
"gene_symbol": "PEAR1",
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"effects": [
"missense_variant"
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"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}