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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: 21-29174795-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=29174795&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 29174795,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000399928.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Thr111Met",
"transcript": "NM_001286620.2",
"protein_id": "NP_001273549.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 142,
"cds_start": 332,
"cds_end": null,
"cds_length": 429,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": "ENST00000399928.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Thr111Met",
"transcript": "ENST00000399928.6",
"protein_id": "ENSP00000382812.1",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 142,
"cds_start": 332,
"cds_end": null,
"cds_length": 429,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": "NM_001286620.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Thr211Met",
"transcript": "ENST00000341618.8",
"protein_id": "ENSP00000343212.4",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 242,
"cds_start": 632,
"cds_end": null,
"cds_length": 729,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Thr211Met",
"transcript": "ENST00000399947.6",
"protein_id": "ENSP00000382828.2",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 242,
"cds_start": 632,
"cds_end": null,
"cds_length": 729,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Thr111Met",
"transcript": "ENST00000399925.5",
"protein_id": "ENSP00000382809.1",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 142,
"cds_start": 332,
"cds_end": null,
"cds_length": 429,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 692,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "n.421C>T",
"hgvs_p": null,
"transcript": "ENST00000460883.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 655,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "n.411C>T",
"hgvs_p": null,
"transcript": "ENST00000470800.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Thr211Met",
"transcript": "NM_001286634.2",
"protein_id": "NP_001273563.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 242,
"cds_start": 632,
"cds_end": null,
"cds_length": 729,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Thr211Met",
"transcript": "NM_001371369.1",
"protein_id": "NP_001358298.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 242,
"cds_start": 632,
"cds_end": null,
"cds_length": 729,
"cdna_start": 1437,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Thr211Met",
"transcript": "NM_020152.4",
"protein_id": "NP_064537.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 242,
"cds_start": 632,
"cds_end": null,
"cds_length": 729,
"cdna_start": 1509,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "NM_001371370.1",
"protein_id": "NP_001358299.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 203,
"cds_start": 515,
"cds_end": null,
"cds_length": 612,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.389C>T",
"hgvs_p": "p.Thr130Met",
"transcript": "NM_001371371.1",
"protein_id": "NP_001358300.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 161,
"cds_start": 389,
"cds_end": null,
"cds_length": 486,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Thr111Met",
"transcript": "NM_001286617.2",
"protein_id": "NP_001273546.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 142,
"cds_start": 332,
"cds_end": null,
"cds_length": 429,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Thr111Met",
"transcript": "NM_001286618.2",
"protein_id": "NP_001273547.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 142,
"cds_start": 332,
"cds_end": null,
"cds_length": 429,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Thr111Met",
"transcript": "NM_001286619.2",
"protein_id": "NP_001273548.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 142,
"cds_start": 332,
"cds_end": null,
"cds_length": 429,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Thr111Met",
"transcript": "NM_001371372.1",
"protein_id": "NP_001358301.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 142,
"cds_start": 332,
"cds_end": null,
"cds_length": 429,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Thr111Met",
"transcript": "NM_001371373.1",
"protein_id": "NP_001358302.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 142,
"cds_start": 332,
"cds_end": null,
"cds_length": 429,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 1616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Thr111Met",
"transcript": "NM_001371374.1",
"protein_id": "NP_001358303.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 142,
"cds_start": 332,
"cds_end": null,
"cds_length": 429,
"cdna_start": 1819,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Thr111Met",
"transcript": "ENST00000339024.8",
"protein_id": "ENSP00000345777.4",
"transcript_support_level": 2,
"aa_start": 111,
"aa_end": null,
"aa_length": 142,
"cds_start": 332,
"cds_end": null,
"cds_length": 429,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Thr111Met",
"transcript": "ENST00000399926.5",
"protein_id": "ENSP00000382810.1",
"transcript_support_level": 3,
"aa_start": 111,
"aa_end": null,
"aa_length": 142,
"cds_start": 332,
"cds_end": null,
"cds_length": 429,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Thr111Met",
"transcript": "ENST00000399934.5",
"protein_id": "ENSP00000382816.1",
"transcript_support_level": 2,
"aa_start": 111,
"aa_end": null,
"aa_length": 142,
"cds_start": 332,
"cds_end": null,
"cds_length": 429,
"cdna_start": 870,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Thr111Met",
"transcript": "ENST00000399935.6",
"protein_id": "ENSP00000382817.2",
"transcript_support_level": 2,
"aa_start": 111,
"aa_end": null,
"aa_length": 142,
"cds_start": 332,
"cds_end": null,
"cds_length": 429,
"cdna_start": 999,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.314C>T",
"hgvs_p": "p.Thr105Met",
"transcript": "NM_001286622.2",
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},
{
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{
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},
{
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],
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},
{
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},
{
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],
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},
{
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"3_prime_UTR_variant"
],
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},
{
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"protein_coding": true,
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"consequences": [
"downstream_gene_variant"
],
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"exon_count": 5,
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"gene_symbol": "MAP3K7CL",
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"hgvs_c": "c.*50C>T",
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"transcript": "ENST00000451489.1",
"protein_id": "ENSP00000411208.1",
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"cds_end": null,
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"feature": null
}
],
"gene_symbol": "MAP3K7CL",
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"dbsnp": "rs529502618",
"frequency_reference_population": 0.00003098139,
"hom_count_reference_population": 0,
"allele_count_reference_population": 50,
"gnomad_exomes_af": 0.0000294145,
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"gnomad_exomes_ac": 43,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07999759912490845,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.0933,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.688,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000399928.6",
"gene_symbol": "MAP3K7CL",
"hgnc_id": 16457,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Thr111Met"
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],
"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
}