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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: 16-2975773-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2975773&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 2975773,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000262300.13",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Cys",
"transcript": "NM_004203.5",
"protein_id": "NP_004194.3",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 499,
"cds_start": 418,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": "ENST00000262300.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Cys",
"transcript": "ENST00000262300.13",
"protein_id": "ENSP00000262300.8",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 499,
"cds_start": 418,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": "NM_004203.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Cys",
"transcript": "ENST00000431515.6",
"protein_id": "ENSP00000392855.2",
"transcript_support_level": 2,
"aa_start": 140,
"aa_end": null,
"aa_length": 568,
"cds_start": 418,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 2308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Cys",
"transcript": "NM_001438149.1",
"protein_id": "NP_001425078.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 499,
"cds_start": 418,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Cys",
"transcript": "NM_001438150.1",
"protein_id": "NP_001425079.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 499,
"cds_start": 418,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Cys",
"transcript": "NM_001438151.1",
"protein_id": "NP_001425080.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 499,
"cds_start": 418,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Cys",
"transcript": "NM_001258451.2",
"protein_id": "NP_001245380.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 490,
"cds_start": 391,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Cys",
"transcript": "NM_001437991.1",
"protein_id": "NP_001424920.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 490,
"cds_start": 391,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 1901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Cys",
"transcript": "ENST00000573944.5",
"protein_id": "ENSP00000459123.1",
"transcript_support_level": 5,
"aa_start": 131,
"aa_end": null,
"aa_length": 490,
"cds_start": 391,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Cys",
"transcript": "ENST00000574385.5",
"protein_id": "ENSP00000458943.1",
"transcript_support_level": 2,
"aa_start": 131,
"aa_end": null,
"aa_length": 490,
"cds_start": 391,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Cys",
"transcript": "NM_182687.3",
"protein_id": "NP_872629.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 480,
"cds_start": 418,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Cys",
"transcript": "ENST00000440027.6",
"protein_id": "ENSP00000397739.2",
"transcript_support_level": 2,
"aa_start": 140,
"aa_end": null,
"aa_length": 480,
"cds_start": 418,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Cys",
"transcript": "NM_001258450.2",
"protein_id": "NP_001245379.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 430,
"cds_start": 211,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 627,
"cdna_end": null,
"cdna_length": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.211C>T",
"hgvs_p": "p.Arg71Cys",
"transcript": "ENST00000574730.5",
"protein_id": "ENSP00000460868.1",
"transcript_support_level": 2,
"aa_start": 71,
"aa_end": null,
"aa_length": 430,
"cds_start": 211,
"cds_end": null,
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"cdna_start": 620,
"cdna_end": null,
"cdna_length": 1806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.391C>T",
"hgvs_p": "p.Arg131Cys",
"transcript": "ENST00000576268.1",
"protein_id": "ENSP00000458545.1",
"transcript_support_level": 3,
"aa_start": 131,
"aa_end": null,
"aa_length": 273,
"cds_start": 391,
"cds_end": null,
"cds_length": 824,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 1091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.526C>T",
"hgvs_p": "p.Arg176Cys",
"transcript": "ENST00000574415.5",
"protein_id": "ENSP00000460598.1",
"transcript_support_level": 5,
"aa_start": 176,
"aa_end": null,
"aa_length": 214,
"cds_start": 526,
"cds_end": null,
"cds_length": 646,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 1006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Cys",
"transcript": "ENST00000575632.5",
"protein_id": "ENSP00000461330.1",
"transcript_support_level": 2,
"aa_start": 140,
"aa_end": null,
"aa_length": 168,
"cds_start": 418,
"cds_end": null,
"cds_length": 509,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Cys",
"transcript": "ENST00000572059.1",
"protein_id": "ENSP00000458842.1",
"transcript_support_level": 5,
"aa_start": 140,
"aa_end": null,
"aa_length": 146,
"cds_start": 418,
"cds_end": null,
"cds_length": 442,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "XM_047434868.1",
"protein_id": "XP_047290824.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 508,
"cds_start": 445,
"cds_end": null,
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"cdna_start": 3450,
"cdna_end": null,
"cdna_length": 4677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "XM_047434869.1",
"protein_id": "XP_047290825.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 508,
"cds_start": 445,
"cds_end": null,
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"cdna_start": 3474,
"cdna_end": null,
"cdna_length": 4701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "XM_047434870.1",
"protein_id": "XP_047290826.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 508,
"cds_start": 445,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 3517,
"cdna_end": null,
"cdna_length": 4744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "XM_047434871.1",
"protein_id": "XP_047290827.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 508,
"cds_start": 445,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 3494,
"cdna_end": null,
"cdna_length": 4721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKMYT1",
"gene_hgnc_id": 29650,
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Arg149Cys",
"transcript": "XM_047434872.1",
"protein_id": "XP_047290828.1",
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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",
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"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Likely_benign",
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"missense_variant"
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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
}