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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: 2-219501530-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219501530&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219501530,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001438893.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "NM_013335.4",
"protein_id": "NP_037467.2",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 420,
"cds_start": 193,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": "ENST00000313597.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013335.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "ENST00000313597.10",
"protein_id": "ENSP00000315925.6",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 420,
"cds_start": 193,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": "NM_013335.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313597.10"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "ENST00000358215.8",
"protein_id": "ENSP00000350949.3",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 420,
"cds_start": 193,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358215.8"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "ENST00000950500.1",
"protein_id": "ENSP00000620559.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 478,
"cds_start": 193,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950500.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "ENST00000950502.1",
"protein_id": "ENSP00000620561.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 478,
"cds_start": 193,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950502.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "NM_001438893.1",
"protein_id": "NP_001425822.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 193,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 1681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438893.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "NM_001438894.1",
"protein_id": "NP_001425823.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 193,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 1676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438894.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "NM_001438895.1",
"protein_id": "NP_001425824.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 193,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438895.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "ENST00000373917.7",
"protein_id": "ENSP00000363027.3",
"transcript_support_level": 5,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 193,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373917.7"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "ENST00000895886.1",
"protein_id": "ENSP00000565945.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 193,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895886.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "ENST00000895889.1",
"protein_id": "ENSP00000565948.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 193,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895889.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "ENST00000895890.1",
"protein_id": "ENSP00000565949.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 193,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895890.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "ENST00000895892.1",
"protein_id": "ENSP00000565951.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 193,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 1988,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895892.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "ENST00000930370.1",
"protein_id": "ENSP00000600429.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 193,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 1981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930370.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "ENST00000930372.1",
"protein_id": "ENSP00000600431.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 473,
"cds_start": 193,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 1641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930372.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "ENST00000930367.1",
"protein_id": "ENSP00000600426.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 428,
"cds_start": 193,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930367.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "ENST00000950499.1",
"protein_id": "ENSP00000620558.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 428,
"cds_start": 193,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 1592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950499.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "ENST00000930366.1",
"protein_id": "ENSP00000600425.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 425,
"cds_start": 193,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930366.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "ENST00000930369.1",
"protein_id": "ENSP00000600428.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
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"cds_start": 193,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930369.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "ENST00000950497.1",
"protein_id": "ENSP00000620556.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 425,
"cds_start": 193,
"cds_end": null,
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"cdna_start": 529,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950497.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "ENST00000950498.1",
"protein_id": "ENSP00000620557.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 425,
"cds_start": 193,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 1594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950498.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPA",
"gene_hgnc_id": 22923,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "ENST00000950504.1",
"protein_id": "ENSP00000620563.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 425,
"cds_start": 193,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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],
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},
{
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],
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"biotype": "nonsense_mediated_decay",
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},
{
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"canonical": false,
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"strand": true,
"consequences": [
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],
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"feature": "ENST00000683691.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
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"gene_symbol": "ASIC4-AS1",
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"biotype": "pseudogene",
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},
{
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"strand": false,
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],
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"exon_count": 2,
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"gene_symbol": "ASIC4-AS1",
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"transcript": "XR_923921.2",
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"biotype": "pseudogene",
"feature": "XR_923921.2"
}
],
"gene_symbol": "GMPPA",
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"dbsnp": "rs1454131972",
"frequency_reference_population": 0.0000018593605,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136869,
"gnomad_genomes_af": 0.00000656978,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6567580103874207,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.564,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2057,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.972,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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_001438893.1",
"gene_symbol": "GMPPA",
"hgnc_id": 22923,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000429882.1",
"gene_symbol": "ASIC4-AS1",
"hgnc_id": 40960,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.182+15166G>A",
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}
],
"clinvar_disease": " achalasia, and intellectual disability syndrome,Alacrima",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Alacrima, achalasia, and intellectual disability syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}