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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: 16-20636767-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=20636767&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 20636767,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_052956.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424Lys",
"transcript": "NM_001318890.3",
"protein_id": "NP_001305819.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 577,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000520010.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318890.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424Lys",
"transcript": "ENST00000520010.6",
"protein_id": "ENSP00000428047.1",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 577,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001318890.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520010.6"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424Lys",
"transcript": "ENST00000307493.8",
"protein_id": "ENSP00000301956.3",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 577,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307493.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "n.*519+604G>A",
"hgvs_p": null,
"transcript": "ENST00000519745.5",
"protein_id": "ENSP00000428650.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000519745.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424Lys",
"transcript": "NM_052956.3",
"protein_id": "NP_443188.2",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 577,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052956.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424Lys",
"transcript": "ENST00000888163.1",
"protein_id": "ENSP00000558222.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 577,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888163.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Arg423Lys",
"transcript": "ENST00000888164.1",
"protein_id": "ENSP00000558223.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 576,
"cds_start": 1268,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888164.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Arg184Lys",
"transcript": "ENST00000888162.1",
"protein_id": "ENSP00000558221.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 337,
"cds_start": 551,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888162.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"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": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424Lys",
"transcript": "XM_047433581.1",
"protein_id": "XP_047289537.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 488,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433581.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424Lys",
"transcript": "XM_047433582.1",
"protein_id": "XP_047289538.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 468,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433582.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424Lys",
"transcript": "XM_011545729.4",
"protein_id": "XP_011544031.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 454,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545729.4"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Arg225Lys",
"transcript": "XM_011545731.3",
"protein_id": "XP_011544033.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 378,
"cds_start": 674,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545731.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.611G>A",
"hgvs_p": "p.Arg204Lys",
"transcript": "XM_006721018.3",
"protein_id": "XP_006721081.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 357,
"cds_start": 611,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721018.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.611G>A",
"hgvs_p": "p.Arg204Lys",
"transcript": "XM_011545732.3",
"protein_id": "XP_011544034.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 357,
"cds_start": 611,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545732.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.611G>A",
"hgvs_p": "p.Arg204Lys",
"transcript": "XM_047433585.1",
"protein_id": "XP_047289541.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 357,
"cds_start": 611,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433585.1"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.1116+3694G>A",
"hgvs_p": null,
"transcript": "ENST00000888161.1",
"protein_id": "ENSP00000558220.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": null,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888161.1"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.312+604G>A",
"hgvs_p": null,
"transcript": "ENST00000524149.5",
"protein_id": "ENSP00000428098.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": null,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524149.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACSM3",
"gene_hgnc_id": 10522,
"hgvs_c": "c.-190+26457C>T",
"hgvs_p": null,
"transcript": "ENST00000568235.5",
"protein_id": "ENSP00000457003.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": null,
"cds_end": null,
"cds_length": 301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568235.5"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.1197+604G>A",
"hgvs_p": null,
"transcript": "XM_006721016.4",
"protein_id": "XP_006721079.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 543,
"cds_start": null,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721016.4"
},
{
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.1116+3694G>A",
"hgvs_p": null,
"transcript": "XM_006721017.4",
"protein_id": "XP_006721080.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": null,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721017.4"
},
{
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.1197+604G>A",
"hgvs_p": null,
"transcript": "XM_047433583.1",
"protein_id": "XP_047289539.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": null,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433583.1"
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "c.993-9451G>A",
"hgvs_p": null,
"transcript": "XM_011545730.4",
"protein_id": "XP_011544032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545730.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 9,
"intron_rank": 6,
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"gene_symbol": "ACSM1",
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"hgvs_c": "c.993-9451G>A",
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"transcript": "XM_047433584.1",
"protein_id": "XP_047289540.1",
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"aa_end": null,
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"cds_end": null,
"cds_length": 1227,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433584.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 6,
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"gene_symbol": "ACSM1",
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"hgvs_c": "c.993-9451G>A",
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"transcript": "XM_017022914.3",
"protein_id": "XP_016878403.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 355,
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"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022914.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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"exon_count": 10,
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"gene_symbol": "ACSM1",
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"hgvs_c": "n.1227G>A",
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"transcript": "ENST00000519031.5",
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"transcript_support_level": 2,
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000519031.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 8,
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"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"hgvs_c": "n.1202+604G>A",
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"transcript": "NR_134918.2",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_134918.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 9,
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"gene_symbol": "ACSM1",
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"hgvs_c": "n.1061-9451G>A",
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"transcript": "XR_007064850.1",
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"cds_end": null,
"cds_length": null,
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"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064850.1"
}
],
"gene_symbol": "ACSM1",
"gene_hgnc_id": 18049,
"dbsnp": "rs147224925",
"frequency_reference_population": 0.00002416315,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000129973,
"gnomad_genomes_af": 0.000131422,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11390241980552673,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.1505,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.537,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_052956.3",
"gene_symbol": "ACSM1",
"hgnc_id": 18049,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424Lys"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000568235.5",
"gene_symbol": "ACSM3",
"hgnc_id": 10522,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-190+26457C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}