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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: 12-53669332-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=53669332&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 53669332,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001002031.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.127A>T",
"hgvs_p": "p.Ser43Cys",
"transcript": "NM_005176.7",
"protein_id": "NP_005167.3",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 141,
"cds_start": 127,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394349.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005176.7"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.127A>T",
"hgvs_p": "p.Ser43Cys",
"transcript": "ENST00000394349.9",
"protein_id": "ENSP00000377878.5",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 141,
"cds_start": 127,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005176.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394349.9"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.127A>T",
"hgvs_p": "p.Ser43Cys",
"transcript": "ENST00000552242.5",
"protein_id": "ENSP00000448801.2",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 141,
"cds_start": 127,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552242.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "n.1534A>T",
"hgvs_p": null,
"transcript": "ENST00000495596.5",
"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": "retained_intron",
"feature": "ENST00000495596.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "n.401A>T",
"hgvs_p": null,
"transcript": "ENST00000552120.1",
"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": "retained_intron",
"feature": "ENST00000552120.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-249A>T",
"hgvs_p": null,
"transcript": "ENST00000549748.2",
"protein_id": "ENSP00000447643.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 16,
"cds_start": null,
"cds_end": null,
"cds_length": 51,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549748.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.175A>T",
"hgvs_p": "p.Ser59Cys",
"transcript": "NM_001002031.4",
"protein_id": "NP_001002031.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 157,
"cds_start": 175,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002031.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.175A>T",
"hgvs_p": "p.Ser59Cys",
"transcript": "ENST00000673498.1",
"protein_id": "ENSP00000499883.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 157,
"cds_start": 175,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673498.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.127A>T",
"hgvs_p": "p.Ser43Cys",
"transcript": "NM_001330269.2",
"protein_id": "NP_001317198.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 141,
"cds_start": 127,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330269.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.127A>T",
"hgvs_p": "p.Ser43Cys",
"transcript": "NM_001369753.1",
"protein_id": "NP_001356682.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 141,
"cds_start": 127,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369753.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.127A>T",
"hgvs_p": "p.Ser43Cys",
"transcript": "NM_001369754.1",
"protein_id": "NP_001356683.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 141,
"cds_start": 127,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369754.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.127A>T",
"hgvs_p": "p.Ser43Cys",
"transcript": "NM_001369755.1",
"protein_id": "NP_001356684.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 141,
"cds_start": 127,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369755.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.127A>T",
"hgvs_p": "p.Ser43Cys",
"transcript": "ENST00000338662.6",
"protein_id": "ENSP00000340315.6",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 141,
"cds_start": 127,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338662.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.127A>T",
"hgvs_p": "p.Ser43Cys",
"transcript": "ENST00000549164.5",
"protein_id": "ENSP00000447317.1",
"transcript_support_level": 3,
"aa_start": 43,
"aa_end": null,
"aa_length": 141,
"cds_start": 127,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549164.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.127A>T",
"hgvs_p": "p.Ser43Cys",
"transcript": "ENST00000894451.1",
"protein_id": "ENSP00000564510.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 141,
"cds_start": 127,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894451.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.127A>T",
"hgvs_p": "p.Ser43Cys",
"transcript": "ENST00000894452.1",
"protein_id": "ENSP00000564511.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 141,
"cds_start": 127,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894452.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.127A>T",
"hgvs_p": "p.Ser43Cys",
"transcript": "ENST00000894453.1",
"protein_id": "ENSP00000564512.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 141,
"cds_start": 127,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894453.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.127A>T",
"hgvs_p": "p.Ser43Cys",
"transcript": "ENST00000894454.1",
"protein_id": "ENSP00000564513.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 141,
"cds_start": 127,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894454.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.127A>T",
"hgvs_p": "p.Ser43Cys",
"transcript": "ENST00000894455.1",
"protein_id": "ENSP00000564514.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 141,
"cds_start": 127,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894455.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.127A>T",
"hgvs_p": "p.Ser43Cys",
"transcript": "ENST00000894456.1",
"protein_id": "ENSP00000564515.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 141,
"cds_start": 127,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894456.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.127A>T",
"hgvs_p": "p.Ser43Cys",
"transcript": "ENST00000894457.1",
"protein_id": "ENSP00000564516.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 141,
"cds_start": 127,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894457.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.127A>T",
"hgvs_p": "p.Ser43Cys",
"transcript": "ENST00000894458.1",
"protein_id": "ENSP00000564517.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 141,
"cds_start": 127,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894458.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
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"exon_rank": 4,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "ATP5MC2",
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"transcript": "NR_163137.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_163137.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "n.-120A>T",
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"transcript": "ENST00000550241.1",
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"transcript_support_level": 3,
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"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": "ENST00000550241.1"
}
],
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"dbsnp": "rs758757719",
"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": 0.07484403252601624,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.011,
"revel_prediction": "Benign",
"alphamissense_score": 0.0727,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.013,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001002031.4",
"gene_symbol": "ATP5MC2",
"hgnc_id": 842,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.175A>T",
"hgvs_p": "p.Ser59Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}