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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: 1-45804041-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=45804041&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 45804041,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001324320.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "NM_015112.3",
"protein_id": "NP_055927.2",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1798,
"cds_start": 146,
"cds_end": null,
"cds_length": 5397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361297.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015112.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "ENST00000361297.7",
"protein_id": "ENSP00000354671.2",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 1798,
"cds_start": 146,
"cds_end": null,
"cds_length": 5397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015112.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361297.7"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "ENST00000904602.1",
"protein_id": "ENSP00000574661.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1863,
"cds_start": 146,
"cds_end": null,
"cds_length": 5592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904602.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "NM_001324320.2",
"protein_id": "NP_001311249.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1805,
"cds_start": 146,
"cds_end": null,
"cds_length": 5418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324320.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "ENST00000904601.1",
"protein_id": "ENSP00000574660.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1805,
"cds_start": 146,
"cds_end": null,
"cds_length": 5418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904601.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "ENST00000904603.1",
"protein_id": "ENSP00000574662.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1804,
"cds_start": 146,
"cds_end": null,
"cds_length": 5415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904603.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "ENST00000904604.1",
"protein_id": "ENSP00000574663.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1804,
"cds_start": 146,
"cds_end": null,
"cds_length": 5415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904604.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "ENST00000922953.1",
"protein_id": "ENSP00000593012.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1804,
"cds_start": 146,
"cds_end": null,
"cds_length": 5415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922953.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "NM_001319245.2",
"protein_id": "NP_001306174.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1797,
"cds_start": 146,
"cds_end": null,
"cds_length": 5394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319245.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "ENST00000904605.1",
"protein_id": "ENSP00000574664.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1797,
"cds_start": 146,
"cds_end": null,
"cds_length": 5394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904605.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "ENST00000922949.1",
"protein_id": "ENSP00000593008.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1797,
"cds_start": 146,
"cds_end": null,
"cds_length": 5394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922949.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "ENST00000922954.1",
"protein_id": "ENSP00000593013.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1777,
"cds_start": 146,
"cds_end": null,
"cds_length": 5334,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922954.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "ENST00000922950.1",
"protein_id": "ENSP00000593009.1",
"transcript_support_level": null,
"aa_start": 49,
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"aa_length": 1764,
"cds_start": 146,
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"cds_length": 5295,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000922950.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
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"transcript": "ENST00000922952.1",
"protein_id": "ENSP00000593011.1",
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"biotype": "protein_coding",
"feature": "ENST00000922952.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "ENST00000922951.1",
"protein_id": "ENSP00000593010.1",
"transcript_support_level": null,
"aa_start": 49,
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"cds_start": 146,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000922951.1"
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "ENST00000922955.1",
"protein_id": "ENSP00000593014.1",
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"aa_start": 49,
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"cds_start": 146,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000922955.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "XM_011541059.3",
"protein_id": "XP_011539361.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1870,
"cds_start": 146,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011541059.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "XM_011541061.3",
"protein_id": "XP_011539363.1",
"transcript_support_level": null,
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"cdna_start": null,
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"biotype": "protein_coding",
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},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "XM_011541062.3",
"protein_id": "XP_011539364.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011541062.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "XM_047450096.1",
"protein_id": "XP_047306052.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047450096.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "XM_047450111.1",
"protein_id": "XP_047306067.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 1804,
"cds_start": 146,
"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": "XM_047450111.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAST2",
"gene_hgnc_id": 19035,
"hgvs_c": "c.146C>G",
"hgvs_p": "p.Thr49Arg",
"transcript": "XM_011541069.3",
"protein_id": "XP_011539371.1",
"transcript_support_level": null,
"aa_start": 49,
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"aa_length": 1397,
"cds_start": 146,
"cds_end": null,
"cds_length": 4194,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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{
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{
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],
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"biotype": "pseudogene",
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],
"gene_symbol": "MAST2",
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"dbsnp": "rs1644064745",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0.00000182521,
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"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1170157790184021,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.039,
"revel_prediction": "Benign",
"alphamissense_score": 0.1148,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.59,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"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,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001324320.2",
"gene_symbol": "MAST2",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"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
}