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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: 20-25012844-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=25012844&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 25012844,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032501.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1675C>T",
"hgvs_p": "p.Arg559Trp",
"transcript": "NM_032501.4",
"protein_id": "NP_115890.2",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 689,
"cds_start": 1675,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323482.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032501.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1675C>T",
"hgvs_p": "p.Arg559Trp",
"transcript": "ENST00000323482.9",
"protein_id": "ENSP00000316924.4",
"transcript_support_level": 1,
"aa_start": 559,
"aa_end": null,
"aa_length": 689,
"cds_start": 1675,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032501.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323482.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1768C>T",
"hgvs_p": "p.Arg590Trp",
"transcript": "ENST00000964866.1",
"protein_id": "ENSP00000634925.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 720,
"cds_start": 1768,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964866.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Arg557Trp",
"transcript": "NM_001252675.2",
"protein_id": "NP_001239604.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 687,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252675.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Arg557Trp",
"transcript": "ENST00000887164.1",
"protein_id": "ENSP00000557223.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 687,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887164.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1657C>T",
"hgvs_p": "p.Arg553Trp",
"transcript": "ENST00000887168.1",
"protein_id": "ENSP00000557227.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 683,
"cds_start": 1657,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887168.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1639C>T",
"hgvs_p": "p.Arg547Trp",
"transcript": "ENST00000887172.1",
"protein_id": "ENSP00000557231.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 677,
"cds_start": 1639,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887172.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1582C>T",
"hgvs_p": "p.Arg528Trp",
"transcript": "ENST00000887171.1",
"protein_id": "ENSP00000557230.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 658,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887171.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1537C>T",
"hgvs_p": "p.Arg513Trp",
"transcript": "ENST00000887166.1",
"protein_id": "ENSP00000557225.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 643,
"cds_start": 1537,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887166.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Arg508Trp",
"transcript": "ENST00000887167.1",
"protein_id": "ENSP00000557226.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 638,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887167.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1516C>T",
"hgvs_p": "p.Arg506Trp",
"transcript": "ENST00000964869.1",
"protein_id": "ENSP00000634928.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 636,
"cds_start": 1516,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964869.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1507C>T",
"hgvs_p": "p.Arg503Trp",
"transcript": "ENST00000887169.1",
"protein_id": "ENSP00000557228.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 633,
"cds_start": 1507,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887169.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1504C>T",
"hgvs_p": "p.Arg502Trp",
"transcript": "ENST00000964867.1",
"protein_id": "ENSP00000634926.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 632,
"cds_start": 1504,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964867.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1378C>T",
"hgvs_p": "p.Arg460Trp",
"transcript": "ENST00000964870.1",
"protein_id": "ENSP00000634929.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 590,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964870.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.Arg438Trp",
"transcript": "NM_001252676.2",
"protein_id": "NP_001239605.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 568,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252676.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1312C>T",
"hgvs_p": "p.Arg438Trp",
"transcript": "ENST00000537502.5",
"protein_id": "ENSP00000439304.2",
"transcript_support_level": 2,
"aa_start": 438,
"aa_end": null,
"aa_length": 568,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537502.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1060C>T",
"hgvs_p": "p.Arg354Trp",
"transcript": "ENST00000887165.1",
"protein_id": "ENSP00000557224.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 484,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887165.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Arg352Trp",
"transcript": "ENST00000964868.1",
"protein_id": "ENSP00000634927.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 482,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964868.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.967C>T",
"hgvs_p": "p.Arg323Trp",
"transcript": "ENST00000964865.1",
"protein_id": "ENSP00000634924.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 453,
"cds_start": 967,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964865.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1060C>T",
"hgvs_p": "p.Arg354Trp",
"transcript": "XM_006723659.2",
"protein_id": "XP_006723722.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 484,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723659.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Trp",
"transcript": "XM_047440557.1",
"protein_id": "XP_047296513.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 471,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440557.1"
},
{
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1453-180C>T",
"hgvs_p": null,
"transcript": "ENST00000887170.1",
"protein_id": "ENSP00000557229.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": null,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887170.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1662+13C>T",
"hgvs_p": null,
"transcript": "NM_001252677.2",
"protein_id": "NP_001239606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": null,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252677.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
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"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1662+13C>T",
"hgvs_p": null,
"transcript": "ENST00000432802.6",
"protein_id": "ENSP00000388793.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": null,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432802.6"
},
{
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1580-180C>T",
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"transcript": "XM_047440556.1",
"protein_id": "XP_047296512.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": null,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440556.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000306411",
"gene_hgnc_id": null,
"hgvs_c": "n.503+3240G>A",
"hgvs_p": null,
"transcript": "ENST00000818190.1",
"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": "ENST00000818190.1"
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],
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"dbsnp": "rs370949798",
"frequency_reference_population": 0.000051424013,
"hom_count_reference_population": 0,
"allele_count_reference_population": 83,
"gnomad_exomes_af": 0.000055408,
"gnomad_genomes_af": 0.0000131451,
"gnomad_exomes_ac": 81,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9229493141174316,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.15000000596046448,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.518,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6168,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.367,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.15,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032501.4",
"gene_symbol": "ACSS1",
"hgnc_id": 16091,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1675C>T",
"hgvs_p": "p.Arg559Trp"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000818190.1",
"gene_symbol": "ENSG00000306411",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.503+3240G>A",
"hgvs_p": null
}
],
"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
}