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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: X-71241095-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=71241095&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 71241095,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005096.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3934C>T",
"hgvs_p": "p.Arg1312Trp",
"transcript": "NM_201599.3",
"protein_id": "NP_963893.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3934,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314425.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201599.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3934C>T",
"hgvs_p": "p.Arg1312Trp",
"transcript": "ENST00000314425.9",
"protein_id": "ENSP00000322845.5",
"transcript_support_level": 1,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3934,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_201599.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314425.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3898C>T",
"hgvs_p": "p.Arg1300Trp",
"transcript": "ENST00000373998.5",
"protein_id": "ENSP00000363110.1",
"transcript_support_level": 1,
"aa_start": 1300,
"aa_end": null,
"aa_length": 1358,
"cds_start": 3898,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373998.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3940C>T",
"hgvs_p": "p.Arg1314Trp",
"transcript": "ENST00000373988.5",
"protein_id": "ENSP00000363100.1",
"transcript_support_level": 5,
"aa_start": 1314,
"aa_end": null,
"aa_length": 1372,
"cds_start": 3940,
"cds_end": null,
"cds_length": 4119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373988.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3934C>T",
"hgvs_p": "p.Arg1312Trp",
"transcript": "NM_005096.3",
"protein_id": "NP_005087.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3934,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005096.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3934C>T",
"hgvs_p": "p.Arg1312Trp",
"transcript": "ENST00000851900.1",
"protein_id": "ENSP00000521959.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3934,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851900.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3934C>T",
"hgvs_p": "p.Arg1312Trp",
"transcript": "ENST00000851902.1",
"protein_id": "ENSP00000521961.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3934,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851902.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3934C>T",
"hgvs_p": "p.Arg1312Trp",
"transcript": "ENST00000851906.1",
"protein_id": "ENSP00000521965.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3934,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851906.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3934C>T",
"hgvs_p": "p.Arg1312Trp",
"transcript": "ENST00000936826.1",
"protein_id": "ENSP00000606885.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3934,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936826.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3934C>T",
"hgvs_p": "p.Arg1312Trp",
"transcript": "ENST00000936827.1",
"protein_id": "ENSP00000606886.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3934,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936827.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3934C>T",
"hgvs_p": "p.Arg1312Trp",
"transcript": "ENST00000936830.1",
"protein_id": "ENSP00000606889.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3934,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936830.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3931C>T",
"hgvs_p": "p.Arg1311Trp",
"transcript": "ENST00000851905.1",
"protein_id": "ENSP00000521964.1",
"transcript_support_level": null,
"aa_start": 1311,
"aa_end": null,
"aa_length": 1369,
"cds_start": 3931,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851905.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3910C>T",
"hgvs_p": "p.Arg1304Trp",
"transcript": "ENST00000936829.1",
"protein_id": "ENSP00000606888.1",
"transcript_support_level": null,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1362,
"cds_start": 3910,
"cds_end": null,
"cds_length": 4089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936829.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3898C>T",
"hgvs_p": "p.Arg1300Trp",
"transcript": "NM_001171162.1",
"protein_id": "NP_001164633.1",
"transcript_support_level": null,
"aa_start": 1300,
"aa_end": null,
"aa_length": 1358,
"cds_start": 3898,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171162.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3898C>T",
"hgvs_p": "p.Arg1300Trp",
"transcript": "ENST00000851901.1",
"protein_id": "ENSP00000521960.1",
"transcript_support_level": null,
"aa_start": 1300,
"aa_end": null,
"aa_length": 1358,
"cds_start": 3898,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851901.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3898C>T",
"hgvs_p": "p.Arg1300Trp",
"transcript": "ENST00000851903.1",
"protein_id": "ENSP00000521962.1",
"transcript_support_level": null,
"aa_start": 1300,
"aa_end": null,
"aa_length": 1358,
"cds_start": 3898,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851903.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3898C>T",
"hgvs_p": "p.Arg1300Trp",
"transcript": "ENST00000851904.1",
"protein_id": "ENSP00000521963.1",
"transcript_support_level": null,
"aa_start": 1300,
"aa_end": null,
"aa_length": 1358,
"cds_start": 3898,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851904.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3679C>T",
"hgvs_p": "p.Arg1227Trp",
"transcript": "ENST00000936828.1",
"protein_id": "ENSP00000606887.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1285,
"cds_start": 3679,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936828.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3664C>T",
"hgvs_p": "p.Arg1222Trp",
"transcript": "ENST00000373984.7",
"protein_id": "ENSP00000363096.3",
"transcript_support_level": 5,
"aa_start": 1222,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3664,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373984.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3934C>T",
"hgvs_p": "p.Arg1312Trp",
"transcript": "XM_005262309.5",
"protein_id": "XP_005262366.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3934,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262309.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3934C>T",
"hgvs_p": "p.Arg1312Trp",
"transcript": "XM_011531062.4",
"protein_id": "XP_011529364.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1370,
"cds_start": 3934,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531062.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "c.3934C>T",
"hgvs_p": "p.Arg1312Trp",
"transcript": "XM_047442632.1",
"protein_id": "XP_047298588.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
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"cds_start": 3934,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047442632.1"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
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"hgvs_c": "c.3898C>T",
"hgvs_p": "p.Arg1300Trp",
"transcript": "XM_005262310.4",
"protein_id": "XP_005262367.1",
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"biotype": "protein_coding",
"feature": "XM_005262310.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
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"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "ZMYM3",
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"hgvs_c": "c.3898C>T",
"hgvs_p": "p.Arg1300Trp",
"transcript": "XM_047442633.1",
"protein_id": "XP_047298589.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047442633.1"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
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"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "ZMYM3",
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"hgvs_c": "c.3898C>T",
"hgvs_p": "p.Arg1300Trp",
"transcript": "XM_047442634.1",
"protein_id": "XP_047298590.1",
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"aa_start": 1300,
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"cds_start": 3898,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442634.1"
},
{
"aa_ref": "R",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
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"exon_count": 25,
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"gene_symbol": "ZMYM3",
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"hgvs_c": "c.3898C>T",
"hgvs_p": "p.Arg1300Trp",
"transcript": "XM_047442635.1",
"protein_id": "XP_047298591.1",
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"cds_start": 3898,
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"biotype": "protein_coding",
"feature": "XM_047442635.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"hgvs_c": "n.4254C>T",
"hgvs_p": null,
"transcript": "ENST00000489332.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000489332.1"
}
],
"gene_symbol": "ZMYM3",
"gene_hgnc_id": 13054,
"dbsnp": "rs2029922009",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8022477626800537,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.312,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9319,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.161,
"phylop100way_prediction": "Benign",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005096.3",
"gene_symbol": "ZMYM3",
"hgnc_id": 13054,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.3934C>T",
"hgvs_p": "p.Arg1312Trp"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}