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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: 17-76733063-ACTGT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=76733063&ref=ACTGT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 76733063,
"ref": "ACTGT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_001080510.5",
"consequences": [
{
"aa_ref": "CL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.174_177delTCTG",
"hgvs_p": "p.Cys58fs",
"transcript": "NM_001080510.5",
"protein_id": "NP_001073979.3",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 190,
"cds_start": 174,
"cds_end": null,
"cds_length": 573,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 1128,
"mane_select": "ENST00000341249.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080510.5"
},
{
"aa_ref": "CL",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.174_177delTCTG",
"hgvs_p": "p.Cys58fs",
"transcript": "ENST00000341249.11",
"protein_id": "ENSP00000341543.5",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 190,
"cds_start": 174,
"cds_end": null,
"cds_length": 573,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 1128,
"mane_select": "NM_001080510.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341249.11"
},
{
"aa_ref": "CL",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267168",
"gene_hgnc_id": null,
"hgvs_c": "c.90_93delTCTG",
"hgvs_p": "p.Cys30fs",
"transcript": "ENST00000587459.1",
"protein_id": "ENSP00000466829.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 100,
"cds_start": 90,
"cds_end": null,
"cds_length": 303,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587459.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.-28_-25delTCTG",
"hgvs_p": null,
"transcript": "ENST00000590964.5",
"protein_id": "ENSP00000465890.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": null,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590964.5"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.-35-226_-35-223delTCTG",
"hgvs_p": null,
"transcript": "ENST00000586200.1",
"protein_id": "ENSP00000465959.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": null,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586200.1"
},
{
"aa_ref": "CL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.174_177delTCTG",
"hgvs_p": "p.Cys58fs",
"transcript": "NM_001206983.3",
"protein_id": "NP_001193912.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 190,
"cds_start": 174,
"cds_end": null,
"cds_length": 573,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 1163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206983.3"
},
{
"aa_ref": "CL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.174_177delTCTG",
"hgvs_p": "p.Cys58fs",
"transcript": "NM_001206984.3",
"protein_id": "NP_001193913.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 190,
"cds_start": 174,
"cds_end": null,
"cds_length": 573,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206984.3"
},
{
"aa_ref": "CL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.174_177delTCTG",
"hgvs_p": "p.Cys58fs",
"transcript": "NM_001302703.2",
"protein_id": "NP_001289632.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 190,
"cds_start": 174,
"cds_end": null,
"cds_length": 573,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 1073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302703.2"
},
{
"aa_ref": "CL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.174_177delTCTG",
"hgvs_p": "p.Cys58fs",
"transcript": "NM_001378348.1",
"protein_id": "NP_001365277.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 190,
"cds_start": 174,
"cds_end": null,
"cds_length": 573,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 1480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378348.1"
},
{
"aa_ref": "CL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.174_177delTCTG",
"hgvs_p": "p.Cys58fs",
"transcript": "NM_001378349.1",
"protein_id": "NP_001365278.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 190,
"cds_start": 174,
"cds_end": null,
"cds_length": 573,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 1035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378349.1"
},
{
"aa_ref": "CL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.174_177delTCTG",
"hgvs_p": "p.Cys58fs",
"transcript": "ENST00000615984.4",
"protein_id": "ENSP00000482599.1",
"transcript_support_level": 2,
"aa_start": 58,
"aa_end": null,
"aa_length": 190,
"cds_start": 174,
"cds_end": null,
"cds_length": 573,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 1171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615984.4"
},
{
"aa_ref": "CL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.174_177delTCTG",
"hgvs_p": "p.Cys58fs",
"transcript": "ENST00000905510.1",
"protein_id": "ENSP00000575569.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 190,
"cds_start": 174,
"cds_end": null,
"cds_length": 573,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 1037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905510.1"
},
{
"aa_ref": "CL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.174_177delTCTG",
"hgvs_p": "p.Cys58fs",
"transcript": "ENST00000905511.1",
"protein_id": "ENSP00000575570.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 190,
"cds_start": 174,
"cds_end": null,
"cds_length": 573,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 1095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905511.1"
},
{
"aa_ref": "CL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.174_177delTCTG",
"hgvs_p": "p.Cys58fs",
"transcript": "ENST00000905512.1",
"protein_id": "ENSP00000575571.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 190,
"cds_start": 174,
"cds_end": null,
"cds_length": 573,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 1549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905512.1"
},
{
"aa_ref": "CL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.174_177delTCTG",
"hgvs_p": "p.Cys58fs",
"transcript": "ENST00000905513.1",
"protein_id": "ENSP00000575572.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 190,
"cds_start": 174,
"cds_end": null,
"cds_length": 573,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 1291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905513.1"
},
{
"aa_ref": "CL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.174_177delTCTG",
"hgvs_p": "p.Cys58fs",
"transcript": "ENST00000905514.1",
"protein_id": "ENSP00000575573.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 190,
"cds_start": 174,
"cds_end": null,
"cds_length": 573,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 1498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905514.1"
},
{
"aa_ref": "CL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.174_177delTCTG",
"hgvs_p": "p.Cys58fs",
"transcript": "ENST00000905515.1",
"protein_id": "ENSP00000575574.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 190,
"cds_start": 174,
"cds_end": null,
"cds_length": 573,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 1264,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905515.1"
},
{
"aa_ref": "CL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.174_177delTCTG",
"hgvs_p": "p.Cys58fs",
"transcript": "ENST00000935921.1",
"protein_id": "ENSP00000605980.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 190,
"cds_start": 174,
"cds_end": null,
"cds_length": 573,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935921.1"
},
{
"aa_ref": "CL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.174_177delTCTG",
"hgvs_p": "p.Cys58fs",
"transcript": "ENST00000969534.1",
"protein_id": "ENSP00000639593.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 190,
"cds_start": 174,
"cds_end": null,
"cds_length": 573,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969534.1"
},
{
"aa_ref": "CL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.174_177delTCTG",
"hgvs_p": "p.Cys58fs",
"transcript": "ENST00000969535.1",
"protein_id": "ENSP00000639594.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 190,
"cds_start": 174,
"cds_end": null,
"cds_length": 573,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 1242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969535.1"
},
{
"aa_ref": "CL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.174_177delTCTG",
"hgvs_p": "p.Cys58fs",
"transcript": "ENST00000969536.1",
"protein_id": "ENSP00000639595.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 190,
"cds_start": 174,
"cds_end": null,
"cds_length": 573,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 1399,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969536.1"
},
{
"aa_ref": "CL",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "c.162_165delTCTG",
"hgvs_p": "p.Cys54fs",
"transcript": "NM_001302705.2",
"protein_id": "NP_001289634.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 186,
"cds_start": 162,
"cds_end": null,
"cds_length": 561,
"cdna_start": 219,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435310.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "n.193_196delTCTG",
"hgvs_p": null,
"transcript": "ENST00000589581.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 585,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000589581.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"hgvs_c": "n.350-226_350-223delTCTG",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 795,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_038193.2"
}
],
"gene_symbol": "METTL23",
"gene_hgnc_id": 26988,
"dbsnp": "rs746453662",
"frequency_reference_population": 0.00006471977,
"hom_count_reference_population": 0,
"allele_count_reference_population": 104,
"gnomad_exomes_af": 0.0000687389,
"gnomad_genomes_af": 0.0000262902,
"gnomad_exomes_ac": 100,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"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": 7.629,
"phylop100way_prediction": "Pathogenic",
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001080510.5",
"gene_symbol": "METTL23",
"hgnc_id": 26988,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.174_177delTCTG",
"hgvs_p": "p.Cys58fs"
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000587459.1",
"gene_symbol": "ENSG00000267168",
"hgnc_id": null,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.90_93delTCTG",
"hgvs_p": "p.Cys30fs"
}
],
"clinvar_disease": " autosomal recessive 44,Inborn genetic diseases,Intellectual disability,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:1",
"phenotype_combined": "Inborn genetic diseases|not provided|Intellectual disability, autosomal recessive 44",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}