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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: 12-110382913-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=110382913&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 110382913,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001385208.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Asp289Tyr",
"transcript": "NM_016238.3",
"protein_id": "NP_057322.3",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 565,
"cds_start": 865,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000455511.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016238.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Asp289Tyr",
"transcript": "ENST00000455511.9",
"protein_id": "ENSP00000394394.4",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 565,
"cds_start": 865,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016238.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455511.9"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Asp289Tyr",
"transcript": "ENST00000450008.3",
"protein_id": "ENSP00000402314.3",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 503,
"cds_start": 865,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450008.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "n.353G>T",
"hgvs_p": null,
"transcript": "ENST00000471602.6",
"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": "ENST00000471602.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.967G>T",
"hgvs_p": "p.Asp323Tyr",
"transcript": "ENST00000880053.1",
"protein_id": "ENSP00000550112.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 599,
"cds_start": 967,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880053.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.916G>T",
"hgvs_p": "p.Asp306Tyr",
"transcript": "ENST00000961552.1",
"protein_id": "ENSP00000631611.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 582,
"cds_start": 916,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961552.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.907G>T",
"hgvs_p": "p.Asp303Tyr",
"transcript": "NM_001385208.1",
"protein_id": "NP_001372137.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 579,
"cds_start": 907,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385208.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Asp289Tyr",
"transcript": "ENST00000961551.1",
"protein_id": "ENSP00000631610.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 565,
"cds_start": 865,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961551.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Asp289Tyr",
"transcript": "ENST00000929444.1",
"protein_id": "ENSP00000599503.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 562,
"cds_start": 865,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929444.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.814G>T",
"hgvs_p": "p.Asp272Tyr",
"transcript": "ENST00000880052.1",
"protein_id": "ENSP00000550111.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 548,
"cds_start": 814,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880052.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Asp289Tyr",
"transcript": "ENST00000929443.1",
"protein_id": "ENSP00000599502.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 529,
"cds_start": 865,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929443.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Asp289Tyr",
"transcript": "NM_001137664.2",
"protein_id": "NP_001131136.2",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 503,
"cds_start": 865,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001137664.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.664G>T",
"hgvs_p": "p.Asp222Tyr",
"transcript": "NM_001385209.1",
"protein_id": "NP_001372138.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 498,
"cds_start": 664,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385209.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.664G>T",
"hgvs_p": "p.Asp222Tyr",
"transcript": "NM_001385210.1",
"protein_id": "NP_001372139.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 498,
"cds_start": 664,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385210.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Asp289Tyr",
"transcript": "NM_001385211.1",
"protein_id": "NP_001372140.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 490,
"cds_start": 865,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385211.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.568G>T",
"hgvs_p": "p.Asp190Tyr",
"transcript": "ENST00000929446.1",
"protein_id": "ENSP00000599505.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 466,
"cds_start": 568,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929446.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.496G>T",
"hgvs_p": "p.Asp166Tyr",
"transcript": "ENST00000880054.1",
"protein_id": "ENSP00000550113.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 442,
"cds_start": 496,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880054.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.865G>T",
"hgvs_p": "p.Asp289Tyr",
"transcript": "ENST00000961554.1",
"protein_id": "ENSP00000631613.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 423,
"cds_start": 865,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961554.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.304G>T",
"hgvs_p": "p.Asp102Tyr",
"transcript": "NM_001385212.1",
"protein_id": "NP_001372141.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 378,
"cds_start": 304,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385212.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.675-965G>T",
"hgvs_p": null,
"transcript": "ENST00000929447.1",
"protein_id": "ENSP00000599506.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": null,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929447.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.817+3414G>T",
"hgvs_p": null,
"transcript": "ENST00000929445.1",
"protein_id": "ENSP00000599504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 460,
"cds_start": null,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929445.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ANAPC7",
"gene_hgnc_id": 17380,
"hgvs_c": "c.521-5296G>T",
"hgvs_p": null,
"transcript": "ENST00000961553.1",
"protein_id": "ENSP00000631612.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": null,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961553.1"
},
{
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{
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"biotype": "retained_intron",
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 10,
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"gene_symbol": "ANAPC7",
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"hgvs_c": "n.946G>T",
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"transcript": "XR_007063088.1",
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007063088.1"
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],
"gene_symbol": "ANAPC7",
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"dbsnp": "rs140956581",
"frequency_reference_population": 6.8412646e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84126e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.813914954662323,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.569,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3658,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.542,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.16,
"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_001385208.1",
"gene_symbol": "ANAPC7",
"hgnc_id": 17380,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.907G>T",
"hgvs_p": "p.Asp303Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}