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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: 12-50080015-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=50080015&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 50080015,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020039.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "c.1165T>C",
"hgvs_p": "p.Tyr389His",
"transcript": "NM_001095.4",
"protein_id": "NP_001086.2",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 528,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000447966.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001095.4"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "c.1165T>C",
"hgvs_p": "p.Tyr389His",
"transcript": "ENST00000447966.7",
"protein_id": "ENSP00000400228.3",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 528,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001095.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447966.7"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "c.1165T>C",
"hgvs_p": "p.Tyr389His",
"transcript": "ENST00000228468.8",
"protein_id": "ENSP00000228468.4",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 574,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228468.8"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "c.1267T>C",
"hgvs_p": "p.Tyr423His",
"transcript": "ENST00000552438.5",
"protein_id": "ENSP00000450247.1",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 562,
"cds_start": 1267,
"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": "ENST00000552438.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "c.1165T>C",
"hgvs_p": "p.Tyr389His",
"transcript": "NM_020039.4",
"protein_id": "NP_064423.2",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 574,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020039.4"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "c.1267T>C",
"hgvs_p": "p.Tyr423His",
"transcript": "NM_001256830.2",
"protein_id": "NP_001243759.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 562,
"cds_start": 1267,
"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": "NM_001256830.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "c.1261T>C",
"hgvs_p": "p.Tyr421His",
"transcript": "ENST00000895671.1",
"protein_id": "ENSP00000565730.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 560,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895671.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "c.1258T>C",
"hgvs_p": "p.Tyr420His",
"transcript": "NM_001412756.1",
"protein_id": "NP_001399685.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 559,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412756.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "c.1168T>C",
"hgvs_p": "p.Tyr390His",
"transcript": "ENST00000895673.1",
"protein_id": "ENSP00000565732.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 529,
"cds_start": 1168,
"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": "ENST00000895673.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "c.1165T>C",
"hgvs_p": "p.Tyr389His",
"transcript": "NM_001412757.1",
"protein_id": "NP_001399686.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 528,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412757.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "c.1165T>C",
"hgvs_p": "p.Tyr389His",
"transcript": "ENST00000895674.1",
"protein_id": "ENSP00000565733.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 528,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895674.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "c.766T>C",
"hgvs_p": "p.Tyr256His",
"transcript": "ENST00000453327.7",
"protein_id": "ENSP00000402896.3",
"transcript_support_level": 2,
"aa_start": 256,
"aa_end": null,
"aa_length": 395,
"cds_start": 766,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453327.7"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "c.541T>C",
"hgvs_p": "p.Tyr181His",
"transcript": "NM_001412759.1",
"protein_id": "NP_001399688.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 320,
"cds_start": 541,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412759.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "c.541T>C",
"hgvs_p": "p.Tyr181His",
"transcript": "NM_001412760.1",
"protein_id": "NP_001399689.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 320,
"cds_start": 541,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412760.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "c.538T>C",
"hgvs_p": "p.Tyr180His",
"transcript": "NM_001412761.1",
"protein_id": "NP_001399690.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 319,
"cds_start": 538,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412761.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "c.538T>C",
"hgvs_p": "p.Tyr180His",
"transcript": "NM_001412762.1",
"protein_id": "NP_001399691.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 319,
"cds_start": 538,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412762.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "c.1261T>C",
"hgvs_p": "p.Tyr421His",
"transcript": "XM_011538350.2",
"protein_id": "XP_011536652.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 560,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538350.2"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "c.1168T>C",
"hgvs_p": "p.Tyr390His",
"transcript": "XM_011538352.2",
"protein_id": "XP_011536654.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 529,
"cds_start": 1168,
"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": "XM_011538352.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "c.1051+1035T>C",
"hgvs_p": null,
"transcript": "ENST00000895672.1",
"protein_id": "ENSP00000565731.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": null,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895672.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "c.995-1087T>C",
"hgvs_p": null,
"transcript": "ENST00000964545.1",
"protein_id": "ENSP00000634604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 427,
"cds_start": null,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964545.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "n.*455T>C",
"hgvs_p": null,
"transcript": "ENST00000550558.5",
"protein_id": "ENSP00000448263.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000550558.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "n.761T>C",
"hgvs_p": null,
"transcript": "ENST00000551199.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000551199.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "n.1584T>C",
"hgvs_p": null,
"transcript": "NR_046389.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_046389.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "n.*455T>C",
"hgvs_p": null,
"transcript": "ENST00000550558.5",
"protein_id": "ENSP00000448263.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000550558.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"hgvs_c": "n.*73T>C",
"hgvs_p": null,
"transcript": "ENST00000548350.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000548350.1"
}
],
"gene_symbol": "ASIC1",
"gene_hgnc_id": 100,
"dbsnp": null,
"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": 0.7419325709342957,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.718,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9635,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020039.4",
"gene_symbol": "ASIC1",
"hgnc_id": 100,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1165T>C",
"hgvs_p": "p.Tyr389His"
}
],
"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
}