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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: 22-29793467-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29793467&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 29793467,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001369920.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1812C>G",
"hgvs_p": "p.Ser604Arg",
"transcript": "NM_032204.5",
"protein_id": "NP_115580.2",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 757,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307790.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032204.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1812C>G",
"hgvs_p": "p.Ser604Arg",
"transcript": "ENST00000307790.8",
"protein_id": "ENSP00000305502.3",
"transcript_support_level": 1,
"aa_start": 604,
"aa_end": null,
"aa_length": 757,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032204.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307790.8"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1935C>G",
"hgvs_p": "p.Ser645Arg",
"transcript": "ENST00000865578.1",
"protein_id": "ENSP00000535637.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 798,
"cds_start": 1935,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865578.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1917C>G",
"hgvs_p": "p.Ser639Arg",
"transcript": "ENST00000865580.1",
"protein_id": "ENSP00000535639.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 792,
"cds_start": 1917,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865580.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1917C>G",
"hgvs_p": "p.Ser639Arg",
"transcript": "ENST00000960647.1",
"protein_id": "ENSP00000630706.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 792,
"cds_start": 1917,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960647.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1893C>G",
"hgvs_p": "p.Ser631Arg",
"transcript": "ENST00000865583.1",
"protein_id": "ENSP00000535642.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 784,
"cds_start": 1893,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865583.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1884C>G",
"hgvs_p": "p.Ser628Arg",
"transcript": "ENST00000865590.1",
"protein_id": "ENSP00000535649.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 781,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865590.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1845C>G",
"hgvs_p": "p.Ser615Arg",
"transcript": "ENST00000923281.1",
"protein_id": "ENSP00000593340.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 768,
"cds_start": 1845,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923281.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1839C>G",
"hgvs_p": "p.Ser613Arg",
"transcript": "ENST00000960645.1",
"protein_id": "ENSP00000630704.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 766,
"cds_start": 1839,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960645.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1812C>G",
"hgvs_p": "p.Ser604Arg",
"transcript": "NM_001369920.1",
"protein_id": "NP_001356849.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 762,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369920.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1812C>G",
"hgvs_p": "p.Ser604Arg",
"transcript": "ENST00000865563.1",
"protein_id": "ENSP00000535622.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 762,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865563.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1812C>G",
"hgvs_p": "p.Ser604Arg",
"transcript": "ENST00000865575.1",
"protein_id": "ENSP00000535634.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 762,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865575.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1812C>G",
"hgvs_p": "p.Ser604Arg",
"transcript": "NM_001369921.1",
"protein_id": "NP_001356850.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 757,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369921.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1812C>G",
"hgvs_p": "p.Ser604Arg",
"transcript": "NM_001369922.1",
"protein_id": "NP_001356851.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 757,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369922.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1812C>G",
"hgvs_p": "p.Ser604Arg",
"transcript": "NM_001369923.1",
"protein_id": "NP_001356852.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 757,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369923.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1812C>G",
"hgvs_p": "p.Ser604Arg",
"transcript": "ENST00000397771.6",
"protein_id": "ENSP00000380877.2",
"transcript_support_level": 5,
"aa_start": 604,
"aa_end": null,
"aa_length": 757,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397771.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1812C>G",
"hgvs_p": "p.Ser604Arg",
"transcript": "ENST00000865570.1",
"protein_id": "ENSP00000535629.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 757,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865570.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1812C>G",
"hgvs_p": "p.Ser604Arg",
"transcript": "ENST00000865584.1",
"protein_id": "ENSP00000535643.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 757,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865584.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1812C>G",
"hgvs_p": "p.Ser604Arg",
"transcript": "ENST00000865588.1",
"protein_id": "ENSP00000535647.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 757,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865588.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1812C>G",
"hgvs_p": "p.Ser604Arg",
"transcript": "ENST00000865592.1",
"protein_id": "ENSP00000535651.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 757,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865592.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1812C>G",
"hgvs_p": "p.Ser604Arg",
"transcript": "ENST00000923278.1",
"protein_id": "ENSP00000593337.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 757,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923278.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1812C>G",
"hgvs_p": "p.Ser604Arg",
"transcript": "ENST00000923279.1",
"protein_id": "ENSP00000593338.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 757,
"cds_start": 1812,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_011530455.3"
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"feature": "XM_047441548.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 21,
"intron_rank": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000458594.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "ASCC2",
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"hgvs_c": "n.732C>G",
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"biotype": "retained_intron",
"feature": "ENST00000487486.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 21,
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"gene_symbol": "ASCC2",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000458594.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "ASCC2",
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"hgvs_c": "n.297-4615C>G",
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"transcript": "ENST00000472433.5",
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"biotype": "pseudogene",
"feature": "ENST00000472433.5"
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{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 3,
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"gene_symbol": "ASCC2",
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"hgvs_c": "c.*110C>G",
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"transcript": "ENST00000411532.1",
"protein_id": "ENSP00000414545.1",
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"biotype": "protein_coding",
"feature": "ENST00000411532.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
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"gene_symbol": "ASCC2",
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"hgvs_c": "n.*120C>G",
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"transcript": "ENST00000483380.1",
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"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000483380.1"
}
],
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"dbsnp": "rs760876798",
"frequency_reference_population": 0.000011152071,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000109452,
"gnomad_genomes_af": 0.0000131382,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04205656051635742,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.037,
"revel_prediction": "Benign",
"alphamissense_score": 0.1491,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.994,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001369920.1",
"gene_symbol": "ASCC2",
"hgnc_id": 24103,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1812C>G",
"hgvs_p": "p.Ser604Arg"
}
],
"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
}