← Back to variant description
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: 2-231214858-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=231214858&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 231214858,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000611582.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "NM_001352754.2",
"protein_id": "NP_001339683.2",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 818,
"cds_start": 205,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 7879,
"mane_select": "ENST00000611582.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "ENST00000611582.5",
"protein_id": "ENSP00000484804.1",
"transcript_support_level": 5,
"aa_start": 69,
"aa_end": null,
"aa_length": 818,
"cds_start": 205,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 7879,
"mane_select": "NM_001352754.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "ENST00000349938.8",
"protein_id": "ENSP00000258417.5",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 665,
"cds_start": 205,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 2300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "NM_001271466.4",
"protein_id": "NP_001258395.2",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 818,
"cds_start": 205,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 8122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "ENST00000683275.1",
"protein_id": "ENSP00000506823.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 710,
"cds_start": 205,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 2349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "ENST00000683112.1",
"protein_id": "ENSP00000507357.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 672,
"cds_start": 205,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "NM_001291656.2",
"protein_id": "NP_001278585.2",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 665,
"cds_start": 205,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 2213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "NM_001352755.2",
"protein_id": "NP_001339684.2",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 665,
"cds_start": 205,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "NM_001352756.2",
"protein_id": "NP_001339685.2",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 665,
"cds_start": 205,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 2458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "NM_025139.6",
"protein_id": "NP_079415.4",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 665,
"cds_start": 205,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "ENST00000683575.1",
"protein_id": "ENSP00000507743.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 665,
"cds_start": 205,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "ENST00000684432.1",
"protein_id": "ENSP00000508405.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 665,
"cds_start": 205,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 2173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "ENST00000684718.1",
"protein_id": "ENSP00000507543.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 665,
"cds_start": 205,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 2397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Gly68Arg",
"transcript": "ENST00000682030.1",
"protein_id": "ENSP00000508117.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 664,
"cds_start": 202,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 2148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "ENST00000682100.1",
"protein_id": "ENSP00000507066.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 664,
"cds_start": 205,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Gly68Arg",
"transcript": "ENST00000682367.1",
"protein_id": "ENSP00000507235.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 664,
"cds_start": 202,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 2404,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "ENST00000683966.1",
"protein_id": "ENSP00000507325.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 664,
"cds_start": 205,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "ENST00000682334.1",
"protein_id": "ENSP00000507763.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 636,
"cds_start": 205,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 2216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "NM_001352757.2",
"protein_id": "NP_001339686.2",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 632,
"cds_start": 205,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 2116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "NM_001352758.2",
"protein_id": "NP_001339687.2",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 632,
"cds_start": 205,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "ENST00000682002.1",
"protein_id": "ENSP00000507152.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 632,
"cds_start": 205,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "ENST00000683271.1",
"protein_id": "ENSP00000507513.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 632,
"cds_start": 205,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "NM_001352759.2",
"protein_id": "NP_001339688.2",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 630,
"cds_start": 205,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 2110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "ENST00000436339.6",
"protein_id": "ENSP00000392086.2",
"transcript_support_level": 3,
"aa_start": 69,
"aa_end": null,
"aa_length": 630,
"cds_start": 205,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "ENST00000683553.1",
"protein_id": "ENSP00000506860.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 616,
"cds_start": 205,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 2216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg",
"transcript": "ENST00000440107.6",
"protein_id": "ENSP00000387391.2",
"transcript_support_level": 2,
"aa_start": 69,
"aa_end": null,
"aa_length": 319,
"cds_start": 205,
"cds_end": null,
"cds_length": 960,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 1089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.309G>A",
"hgvs_p": null,
"transcript": "ENST00000482392.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.314G>A",
"hgvs_p": null,
"transcript": "ENST00000682027.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.516G>A",
"hgvs_p": null,
"transcript": "ENST00000682233.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.205G>A",
"hgvs_p": null,
"transcript": "ENST00000682264.1",
"protein_id": "ENSP00000507212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.512G>A",
"hgvs_p": null,
"transcript": "ENST00000682751.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.205G>A",
"hgvs_p": null,
"transcript": "ENST00000683040.1",
"protein_id": "ENSP00000507817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.79G>A",
"hgvs_p": null,
"transcript": "ENST00000683063.1",
"protein_id": "ENSP00000507407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.302G>A",
"hgvs_p": null,
"transcript": "ENST00000683107.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.351G>A",
"hgvs_p": null,
"transcript": "ENST00000683165.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.205G>A",
"hgvs_p": null,
"transcript": "ENST00000683321.1",
"protein_id": "ENSP00000508154.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.205G>A",
"hgvs_p": null,
"transcript": "ENST00000683629.1",
"protein_id": "ENSP00000507960.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.205G>A",
"hgvs_p": null,
"transcript": "ENST00000683702.1",
"protein_id": "ENSP00000507686.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.516G>A",
"hgvs_p": null,
"transcript": "ENST00000683814.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.310G>A",
"hgvs_p": null,
"transcript": "ENST00000684011.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.205G>A",
"hgvs_p": null,
"transcript": "ENST00000684051.1",
"protein_id": "ENSP00000507854.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.205G>A",
"hgvs_p": null,
"transcript": "ENST00000684368.1",
"protein_id": "ENSP00000508353.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.205G>A",
"hgvs_p": null,
"transcript": "ENST00000684565.1",
"protein_id": "ENSP00000507599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.314G>A",
"hgvs_p": null,
"transcript": "NR_148040.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"hgvs_c": "n.-76G>A",
"hgvs_p": null,
"transcript": "ENST00000469789.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARMC9",
"gene_hgnc_id": 20730,
"dbsnp": "rs750247691",
"frequency_reference_population": 0.00003345779,
"hom_count_reference_population": 0,
"allele_count_reference_population": 54,
"gnomad_exomes_af": 0.000034887,
"gnomad_genomes_af": 0.0000197226,
"gnomad_exomes_ac": 51,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7594717741012573,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.538,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9228,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.844,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.09,
"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,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000611582.5",
"gene_symbol": "ARMC9",
"hgnc_id": 20730,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.205G>A",
"hgvs_p": "p.Gly69Arg"
}
],
"clinvar_disease": "ARMC9-related Joubert syndrome,Joubert syndrome,Joubert syndrome 30,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:1",
"phenotype_combined": "ARMC9-related Joubert syndrome|Joubert syndrome 30|Joubert syndrome|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}