← 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: 17-76733602-CAAAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=76733602&ref=CAAAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 76733602,
"ref": "CAAAG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000341249.11",
"consequences": [
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.492_495delAGAA",
"hgvs_p": "p.Glu165fs",
"transcript": "NM_001080510.5",
"protein_id": "NP_001073979.3",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 190,
"cds_start": 492,
"cds_end": null,
"cds_length": 573,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 1128,
"mane_select": "ENST00000341249.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.492_495delAGAA",
"hgvs_p": "p.Glu165fs",
"transcript": "ENST00000341249.11",
"protein_id": "ENSP00000341543.5",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 190,
"cds_start": 492,
"cds_end": null,
"cds_length": 573,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 1128,
"mane_select": "NM_001080510.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.291_294delAGAA",
"hgvs_p": "p.Glu98fs",
"transcript": "ENST00000590964.5",
"protein_id": "ENSP00000465890.1",
"transcript_support_level": 1,
"aa_start": 97,
"aa_end": null,
"aa_length": 123,
"cds_start": 291,
"cds_end": null,
"cds_length": 372,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 1006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.135_138delAGAA",
"hgvs_p": "p.Glu46fs",
"transcript": "ENST00000586200.1",
"protein_id": "ENSP00000465959.1",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 71,
"cds_start": 135,
"cds_end": null,
"cds_length": 216,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267168",
"gene_hgnc_id": null,
"hgvs_c": "c.238+390_238+393delAGAA",
"hgvs_p": null,
"transcript": "ENST00000587459.1",
"protein_id": "ENSP00000466829.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": -4,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.492_495delAGAA",
"hgvs_p": "p.Glu165fs",
"transcript": "NM_001206983.3",
"protein_id": "NP_001193912.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 190,
"cds_start": 492,
"cds_end": null,
"cds_length": 573,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 1163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.492_495delAGAA",
"hgvs_p": "p.Glu165fs",
"transcript": "NM_001206984.3",
"protein_id": "NP_001193913.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 190,
"cds_start": 492,
"cds_end": null,
"cds_length": 573,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.492_495delAGAA",
"hgvs_p": "p.Glu165fs",
"transcript": "NM_001302703.2",
"protein_id": "NP_001289632.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 190,
"cds_start": 492,
"cds_end": null,
"cds_length": 573,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 1073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.492_495delAGAA",
"hgvs_p": "p.Glu165fs",
"transcript": "NM_001378348.1",
"protein_id": "NP_001365277.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 190,
"cds_start": 492,
"cds_end": null,
"cds_length": 573,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.492_495delAGAA",
"hgvs_p": "p.Glu165fs",
"transcript": "NM_001378349.1",
"protein_id": "NP_001365278.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 190,
"cds_start": 492,
"cds_end": null,
"cds_length": 573,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 1035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.492_495delAGAA",
"hgvs_p": "p.Glu165fs",
"transcript": "ENST00000615984.4",
"protein_id": "ENSP00000482599.1",
"transcript_support_level": 2,
"aa_start": 164,
"aa_end": null,
"aa_length": 190,
"cds_start": 492,
"cds_end": null,
"cds_length": 573,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 1171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.480_483delAGAA",
"hgvs_p": "p.Glu161fs",
"transcript": "NM_001302705.2",
"protein_id": "NP_001289634.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 186,
"cds_start": 480,
"cds_end": null,
"cds_length": 561,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.480_483delAGAA",
"hgvs_p": "p.Glu161fs",
"transcript": "NM_001378350.1",
"protein_id": "NP_001365279.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 186,
"cds_start": 480,
"cds_end": null,
"cds_length": 561,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.480_483delAGAA",
"hgvs_p": "p.Glu161fs",
"transcript": "NM_001378351.1",
"protein_id": "NP_001365280.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 186,
"cds_start": 480,
"cds_end": null,
"cds_length": 561,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 1018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.480_483delAGAA",
"hgvs_p": "p.Glu161fs",
"transcript": "NM_001378352.1",
"protein_id": "NP_001365281.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 186,
"cds_start": 480,
"cds_end": null,
"cds_length": 561,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.480_483delAGAA",
"hgvs_p": "p.Glu161fs",
"transcript": "NM_001378353.1",
"protein_id": "NP_001365282.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 186,
"cds_start": 480,
"cds_end": null,
"cds_length": 561,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.492_495delAGAA",
"hgvs_p": "p.Glu165fs",
"transcript": "ENST00000588563.5",
"protein_id": "ENSP00000467503.1",
"transcript_support_level": 2,
"aa_start": 164,
"aa_end": null,
"aa_length": 175,
"cds_start": 492,
"cds_end": null,
"cds_length": 530,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.291_294delAGAA",
"hgvs_p": "p.Glu98fs",
"transcript": "NM_001206985.3",
"protein_id": "NP_001193914.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 123,
"cds_start": 291,
"cds_end": null,
"cds_length": 372,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.291_294delAGAA",
"hgvs_p": "p.Glu98fs",
"transcript": "NM_001206986.3",
"protein_id": "NP_001193915.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 123,
"cds_start": 291,
"cds_end": null,
"cds_length": 372,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 1058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.291_294delAGAA",
"hgvs_p": "p.Glu98fs",
"transcript": "NM_001206987.3",
"protein_id": "NP_001193916.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 123,
"cds_start": 291,
"cds_end": null,
"cds_length": 372,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 1202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.291_294delAGAA",
"hgvs_p": "p.Glu98fs",
"transcript": "NM_001302704.2",
"protein_id": "NP_001289633.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 123,
"cds_start": 291,
"cds_end": null,
"cds_length": 372,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.291_294delAGAA",
"hgvs_p": "p.Glu98fs",
"transcript": "NM_001378354.1",
"protein_id": "NP_001365283.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 123,
"cds_start": 291,
"cds_end": null,
"cds_length": 372,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.291_294delAGAA",
"hgvs_p": "p.Glu98fs",
"transcript": "ENST00000586752.5",
"protein_id": "ENSP00000466203.1",
"transcript_support_level": 2,
"aa_start": 97,
"aa_end": null,
"aa_length": 123,
"cds_start": 291,
"cds_end": null,
"cds_length": 372,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.291_294delAGAA",
"hgvs_p": "p.Glu98fs",
"transcript": "ENST00000588822.1",
"protein_id": "ENSP00000465430.1",
"transcript_support_level": 3,
"aa_start": 97,
"aa_end": null,
"aa_length": 123,
"cds_start": 291,
"cds_end": null,
"cds_length": 372,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 1049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.492_495delAGAA",
"hgvs_p": "p.Glu165fs",
"transcript": "XM_047435307.1",
"protein_id": "XP_047291263.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 190,
"cds_start": 492,
"cds_end": null,
"cds_length": 573,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 1039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.480_483delAGAA",
"hgvs_p": "p.Glu161fs",
"transcript": "XM_047435308.1",
"protein_id": "XP_047291264.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 186,
"cds_start": 480,
"cds_end": null,
"cds_length": 561,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.291_294delAGAA",
"hgvs_p": "p.Glu98fs",
"transcript": "XM_047435309.1",
"protein_id": "XP_047291265.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 123,
"cds_start": 291,
"cds_end": null,
"cds_length": 372,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.291_294delAGAA",
"hgvs_p": "p.Glu98fs",
"transcript": "XM_047435310.1",
"protein_id": "XP_047291266.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 123,
"cds_start": 291,
"cds_end": null,
"cds_length": 372,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 931,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "n.519_522delAGAA",
"hgvs_p": null,
"transcript": "NR_038193.2",
"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": 795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.*79_*82delAGAA",
"hgvs_p": null,
"transcript": "ENST00000586738.5",
"protein_id": "ENSP00000468386.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": -4,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.*79_*82delAGAA",
"hgvs_p": null,
"transcript": "ENST00000588783.5",
"protein_id": "ENSP00000466938.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": -4,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.*79_*82delAGAA",
"hgvs_p": null,
"transcript": "ENST00000588302.5",
"protein_id": "ENSP00000468704.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": -4,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.*39_*42delAAAG",
"hgvs_p": null,
"transcript": "ENST00000592849.5",
"protein_id": "ENSP00000467527.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": -4,
"cds_end": null,
"cds_length": 451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.*192_*195delAAAG",
"hgvs_p": null,
"transcript": "ENST00000589977.5",
"protein_id": "ENSP00000464965.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": -4,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.*192_*195delAAAG",
"hgvs_p": null,
"transcript": "ENST00000591571.5",
"protein_id": "ENSP00000466614.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 79,
"cds_start": -4,
"cds_end": null,
"cds_length": 240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "n.*1_*4delAAAG",
"hgvs_p": null,
"transcript": "ENST00000589581.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"dbsnp": "rs1228667063",
"frequency_reference_population": 0.0000034209788,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342098,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.247,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Strong",
"PM2"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000341249.11",
"gene_symbol": "METTL23",
"hgnc_id": 26988,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.492_495delAGAA",
"hgvs_p": "p.Glu165fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000587459.1",
"gene_symbol": "ENSG00000267168",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.238+390_238+393delAGAA",
"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
}