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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: 12-62467261-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=62467261&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 62467261,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015026.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His",
"transcript": "NM_015026.3",
"protein_id": "NP_055841.2",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1717,
"cds_start": 54,
"cds_end": null,
"cds_length": 5154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393630.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015026.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His",
"transcript": "ENST00000393630.8",
"protein_id": "ENSP00000377250.4",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 1717,
"cds_start": 54,
"cds_end": null,
"cds_length": 5154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015026.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393630.8"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His",
"transcript": "ENST00000393629.6",
"protein_id": "ENSP00000377249.2",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 1711,
"cds_start": 54,
"cds_end": null,
"cds_length": 5136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393629.6"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His",
"transcript": "ENST00000552738.5",
"protein_id": "ENSP00000449215.1",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 1688,
"cds_start": 54,
"cds_end": null,
"cds_length": 5067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552738.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His",
"transcript": "ENST00000546600.5",
"protein_id": "ENSP00000447407.1",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 1675,
"cds_start": 54,
"cds_end": null,
"cds_length": 5028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546600.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "n.54G>C",
"hgvs_p": null,
"transcript": "ENST00000547095.5",
"protein_id": "ENSP00000446626.1",
"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": "ENST00000547095.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "n.418G>C",
"hgvs_p": null,
"transcript": "ENST00000549378.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000549378.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His",
"transcript": "ENST00000641654.1",
"protein_id": "ENSP00000493462.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1718,
"cds_start": 54,
"cds_end": null,
"cds_length": 5157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641654.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His",
"transcript": "NM_001278470.2",
"protein_id": "NP_001265399.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1711,
"cds_start": 54,
"cds_end": null,
"cds_length": 5136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278470.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His",
"transcript": "ENST00000953602.1",
"protein_id": "ENSP00000623661.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1694,
"cds_start": 54,
"cds_end": null,
"cds_length": 5085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953602.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His",
"transcript": "NM_001278471.2",
"protein_id": "NP_001265400.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1688,
"cds_start": 54,
"cds_end": null,
"cds_length": 5067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278471.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His",
"transcript": "ENST00000953603.1",
"protein_id": "ENSP00000623662.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1683,
"cds_start": 54,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953603.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His",
"transcript": "ENST00000854043.1",
"protein_id": "ENSP00000524102.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1677,
"cds_start": 54,
"cds_end": null,
"cds_length": 5034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854043.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His",
"transcript": "NM_001278469.3",
"protein_id": "NP_001265398.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1675,
"cds_start": 54,
"cds_end": null,
"cds_length": 5028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278469.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His",
"transcript": "ENST00000914365.1",
"protein_id": "ENSP00000584424.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1668,
"cds_start": 54,
"cds_end": null,
"cds_length": 5007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914365.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His",
"transcript": "ENST00000854042.1",
"protein_id": "ENSP00000524101.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1646,
"cds_start": 54,
"cds_end": null,
"cds_length": 4941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854042.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His",
"transcript": "ENST00000953601.1",
"protein_id": "ENSP00000623660.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1633,
"cds_start": 54,
"cds_end": null,
"cds_length": 4902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953601.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His",
"transcript": "ENST00000854041.1",
"protein_id": "ENSP00000524100.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1627,
"cds_start": 54,
"cds_end": null,
"cds_length": 4884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854041.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His",
"transcript": "ENST00000552115.5",
"protein_id": "ENSP00000446635.1",
"transcript_support_level": 5,
"aa_start": 18,
"aa_end": null,
"aa_length": 1072,
"cds_start": 54,
"cds_end": null,
"cds_length": 3219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552115.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His",
"transcript": "XM_017019041.2",
"protein_id": "XP_016874530.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1718,
"cds_start": 54,
"cds_end": null,
"cds_length": 5157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019041.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His",
"transcript": "XM_017019042.2",
"protein_id": "XP_016874531.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1712,
"cds_start": 54,
"cds_end": null,
"cds_length": 5139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019042.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His",
"transcript": "XM_047428543.1",
"protein_id": "XP_047284499.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 1521,
"cds_start": 54,
"cds_end": null,
"cds_length": 4566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428543.1"
},
{
"aa_ref": "Q",
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{
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{
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"feature": "NM_001278472.2"
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{
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"canonical": false,
"protein_coding": true,
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"feature": "XM_017019043.2"
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{
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},
{
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],
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{
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],
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"gene_symbol": "MON2",
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"transcript": "XM_047428542.1",
"protein_id": "XP_047284498.1",
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"biotype": "protein_coding",
"feature": "XM_047428542.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 4,
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"gene_symbol": "MON2",
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"hgvs_c": "n.54G>C",
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"transcript": "ENST00000549286.1",
"protein_id": "ENSP00000450136.1",
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"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000549286.1"
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],
"gene_symbol": "MON2",
"gene_hgnc_id": 29177,
"dbsnp": "rs370175705",
"frequency_reference_population": 0.00003717675,
"hom_count_reference_population": 0,
"allele_count_reference_population": 60,
"gnomad_exomes_af": 0.0000225765,
"gnomad_genomes_af": 0.000177384,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 27,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3205186724662781,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.211,
"revel_prediction": "Benign",
"alphamissense_score": 0.7667,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.187,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_015026.3",
"gene_symbol": "MON2",
"hgnc_id": 29177,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.54G>C",
"hgvs_p": "p.Gln18His"
}
],
"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
}