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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: 22-29792435-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29792435&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 29792435,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001369920.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.2020A>C",
"hgvs_p": "p.Lys674Gln",
"transcript": "NM_032204.5",
"protein_id": "NP_115580.2",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 757,
"cds_start": 2020,
"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": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.2020A>C",
"hgvs_p": "p.Lys674Gln",
"transcript": "ENST00000307790.8",
"protein_id": "ENSP00000305502.3",
"transcript_support_level": 1,
"aa_start": 674,
"aa_end": null,
"aa_length": 757,
"cds_start": 2020,
"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": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.2020A>C",
"hgvs_p": "p.Lys674Gln",
"transcript": "NM_001369920.1",
"protein_id": "NP_001356849.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 762,
"cds_start": 2020,
"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": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.2020A>C",
"hgvs_p": "p.Lys674Gln",
"transcript": "ENST00000865563.1",
"protein_id": "ENSP00000535622.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 762,
"cds_start": 2020,
"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": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.2020A>C",
"hgvs_p": "p.Lys674Gln",
"transcript": "ENST00000865575.1",
"protein_id": "ENSP00000535634.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 762,
"cds_start": 2020,
"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": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1951A>C",
"hgvs_p": "p.Lys651Gln",
"transcript": "ENST00000865585.1",
"protein_id": "ENSP00000535644.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 739,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865585.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1945A>C",
"hgvs_p": "p.Lys649Gln",
"transcript": "ENST00000923284.1",
"protein_id": "ENSP00000593343.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 737,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923284.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1945A>C",
"hgvs_p": "p.Lys649Gln",
"transcript": "ENST00000923288.1",
"protein_id": "ENSP00000593347.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 737,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923288.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1945A>C",
"hgvs_p": "p.Lys649Gln",
"transcript": "ENST00000960650.1",
"protein_id": "ENSP00000630709.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 737,
"cds_start": 1945,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960650.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1861A>C",
"hgvs_p": "p.Lys621Gln",
"transcript": "NM_001369925.1",
"protein_id": "NP_001356854.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 709,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369925.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1861A>C",
"hgvs_p": "p.Lys621Gln",
"transcript": "ENST00000865573.1",
"protein_id": "ENSP00000535632.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 709,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865573.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1861A>C",
"hgvs_p": "p.Lys621Gln",
"transcript": "ENST00000960640.1",
"protein_id": "ENSP00000630699.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 709,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960640.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1861A>C",
"hgvs_p": "p.Lys621Gln",
"transcript": "ENST00000960648.1",
"protein_id": "ENSP00000630707.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 709,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960648.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.2182A>C",
"hgvs_p": "p.Lys728Gln",
"transcript": "XM_024452287.2",
"protein_id": "XP_024308055.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 816,
"cds_start": 2182,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452287.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.2107A>C",
"hgvs_p": "p.Lys703Gln",
"transcript": "XM_024452288.2",
"protein_id": "XP_024308056.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 791,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452288.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.2023A>C",
"hgvs_p": "p.Lys675Gln",
"transcript": "XM_024452290.2",
"protein_id": "XP_024308058.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 763,
"cds_start": 2023,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452290.2"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.2020A>C",
"hgvs_p": "p.Lys674Gln",
"transcript": "XM_011530442.4",
"protein_id": "XP_011528744.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 762,
"cds_start": 2020,
"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": "XM_011530442.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.2020A>C",
"hgvs_p": "p.Lys674Gln",
"transcript": "XM_011530443.3",
"protein_id": "XP_011528745.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 762,
"cds_start": 2020,
"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": "XM_011530443.3"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.2020A>C",
"hgvs_p": "p.Lys674Gln",
"transcript": "XM_011530444.3",
"protein_id": "XP_011528746.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 762,
"cds_start": 2020,
"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": "XM_011530444.3"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.2020A>C",
"hgvs_p": "p.Lys674Gln",
"transcript": "XM_011530445.3",
"protein_id": "XP_011528747.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 762,
"cds_start": 2020,
"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": "XM_011530445.3"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.2020A>C",
"hgvs_p": "p.Lys674Gln",
"transcript": "XM_047441539.1",
"protein_id": "XP_047297495.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 762,
"cds_start": 2020,
"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": "XM_047441539.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASCC2",
"gene_hgnc_id": 24103,
"hgvs_c": "c.1945A>C",
"hgvs_p": "p.Lys649Gln",
"transcript": "XM_047441541.1",
"protein_id": "XP_047297497.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 737,
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{
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"splice_region_variant"
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{
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{
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{
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"splice_region_variant"
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{
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"strand": false,
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"non_coding_transcript_exon_variant"
],
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{
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"non_coding_transcript_exon_variant"
],
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"biotype": "retained_intron",
"feature": "ENST00000487486.5"
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{
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],
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000458594.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "ASCC2",
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"hgvs_c": "n.297-3583A>C",
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"transcript": "ENST00000472433.5",
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"biotype": "pseudogene",
"feature": "ENST00000472433.5"
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],
"gene_symbol": "ASCC2",
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"dbsnp": "rs151202545",
"frequency_reference_population": 0.000189604,
"hom_count_reference_population": 1,
"allele_count_reference_population": 306,
"gnomad_exomes_af": 0.000190888,
"gnomad_genomes_af": 0.000177282,
"gnomad_exomes_ac": 279,
"gnomad_genomes_ac": 27,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16792118549346924,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.026000000536441803,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.095,
"revel_prediction": "Benign",
"alphamissense_score": 0.1362,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.957,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0047364198772727,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001369920.1",
"gene_symbol": "ASCC2",
"hgnc_id": 24103,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2020A>C",
"hgvs_p": "p.Lys674Gln"
}
],
"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
}