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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: 20-25009355-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=25009355&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 25009355,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032501.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1805C>T",
"hgvs_p": "p.Ala602Val",
"transcript": "NM_032501.4",
"protein_id": "NP_115890.2",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 689,
"cds_start": 1805,
"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": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1805C>T",
"hgvs_p": "p.Ala602Val",
"transcript": "ENST00000323482.9",
"protein_id": "ENSP00000316924.4",
"transcript_support_level": 1,
"aa_start": 602,
"aa_end": null,
"aa_length": 689,
"cds_start": 1805,
"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": 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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "n.2972C>T",
"hgvs_p": null,
"transcript": "ENST00000484396.1",
"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": "pseudogene",
"feature": "ENST00000484396.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1898C>T",
"hgvs_p": "p.Ala633Val",
"transcript": "ENST00000964866.1",
"protein_id": "ENSP00000634925.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 720,
"cds_start": 1898,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1799C>T",
"hgvs_p": "p.Ala600Val",
"transcript": "NM_001252675.2",
"protein_id": "NP_001239604.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 687,
"cds_start": 1799,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1799C>T",
"hgvs_p": "p.Ala600Val",
"transcript": "ENST00000887164.1",
"protein_id": "ENSP00000557223.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 687,
"cds_start": 1799,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1787C>T",
"hgvs_p": "p.Ala596Val",
"transcript": "ENST00000887168.1",
"protein_id": "ENSP00000557227.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 683,
"cds_start": 1787,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1769C>T",
"hgvs_p": "p.Ala590Val",
"transcript": "ENST00000887172.1",
"protein_id": "ENSP00000557231.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 677,
"cds_start": 1769,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1712C>T",
"hgvs_p": "p.Ala571Val",
"transcript": "ENST00000887171.1",
"protein_id": "ENSP00000557230.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 658,
"cds_start": 1712,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1667C>T",
"hgvs_p": "p.Ala556Val",
"transcript": "ENST00000887166.1",
"protein_id": "ENSP00000557225.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 643,
"cds_start": 1667,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1652C>T",
"hgvs_p": "p.Ala551Val",
"transcript": "ENST00000887167.1",
"protein_id": "ENSP00000557226.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 638,
"cds_start": 1652,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1646C>T",
"hgvs_p": "p.Ala549Val",
"transcript": "ENST00000964869.1",
"protein_id": "ENSP00000634928.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 636,
"cds_start": 1646,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1637C>T",
"hgvs_p": "p.Ala546Val",
"transcript": "ENST00000887169.1",
"protein_id": "ENSP00000557228.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 633,
"cds_start": 1637,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1634C>T",
"hgvs_p": "p.Ala545Val",
"transcript": "ENST00000964867.1",
"protein_id": "ENSP00000634926.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 632,
"cds_start": 1634,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1550C>T",
"hgvs_p": "p.Ala517Val",
"transcript": "ENST00000887170.1",
"protein_id": "ENSP00000557229.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 604,
"cds_start": 1550,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1508C>T",
"hgvs_p": "p.Ala503Val",
"transcript": "ENST00000964870.1",
"protein_id": "ENSP00000634929.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 590,
"cds_start": 1508,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1442C>T",
"hgvs_p": "p.Ala481Val",
"transcript": "NM_001252676.2",
"protein_id": "NP_001239605.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 568,
"cds_start": 1442,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1442C>T",
"hgvs_p": "p.Ala481Val",
"transcript": "ENST00000537502.5",
"protein_id": "ENSP00000439304.2",
"transcript_support_level": 2,
"aa_start": 481,
"aa_end": null,
"aa_length": 568,
"cds_start": 1442,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"transcript": "ENST00000887165.1",
"protein_id": "ENSP00000557224.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 484,
"cds_start": 1190,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1184C>T",
"hgvs_p": "p.Ala395Val",
"transcript": "ENST00000964868.1",
"protein_id": "ENSP00000634927.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 482,
"cds_start": 1184,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1097C>T",
"hgvs_p": "p.Ala366Val",
"transcript": "ENST00000964865.1",
"protein_id": "ENSP00000634924.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 453,
"cds_start": 1097,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1190C>T",
"hgvs_p": "p.Ala397Val",
"transcript": "XM_006723659.2",
"protein_id": "XP_006723722.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 484,
"cds_start": 1190,
"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": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1151C>T",
"hgvs_p": "p.Ala384Val",
"transcript": "XM_047440557.1",
"protein_id": "XP_047296513.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 471,
"cds_start": 1151,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.*3C>T",
"hgvs_p": null,
"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,
"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": 11,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1663-2430C>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,
"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": 11,
"intron_rank_end": null,
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"hgvs_c": "c.1663-2430C>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": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000306411",
"gene_hgnc_id": null,
"hgvs_c": "n.254G>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"
}
],
"gene_symbol": "ACSS1",
"gene_hgnc_id": 16091,
"dbsnp": "rs540694076",
"frequency_reference_population": 0.000014868451,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000143651,
"gnomad_genomes_af": 0.0000197006,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.029899179935455322,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.0731,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.23,
"phylop100way_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_032501.4",
"gene_symbol": "ACSS1",
"hgnc_id": 16091,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1805C>T",
"hgvs_p": "p.Ala602Val"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000818190.1",
"gene_symbol": "ENSG00000306411",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.254G>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
}