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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: 21-29149197-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=29149197&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 29149197,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001286620.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.79C>A",
"hgvs_p": "p.Pro27Thr",
"transcript": "NM_001286620.2",
"protein_id": "NP_001273549.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 142,
"cds_start": 79,
"cds_end": null,
"cds_length": 429,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": "ENST00000399928.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.79C>A",
"hgvs_p": "p.Pro27Thr",
"transcript": "ENST00000399928.6",
"protein_id": "ENSP00000382812.1",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 142,
"cds_start": 79,
"cds_end": null,
"cds_length": 429,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": "NM_001286620.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.379C>A",
"hgvs_p": "p.Pro127Thr",
"transcript": "ENST00000341618.8",
"protein_id": "ENSP00000343212.4",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 242,
"cds_start": 379,
"cds_end": null,
"cds_length": 729,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.379C>A",
"hgvs_p": "p.Pro127Thr",
"transcript": "ENST00000399947.6",
"protein_id": "ENSP00000382828.2",
"transcript_support_level": 1,
"aa_start": 127,
"aa_end": null,
"aa_length": 242,
"cds_start": 379,
"cds_end": null,
"cds_length": 729,
"cdna_start": 656,
"cdna_end": null,
"cdna_length": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.79C>A",
"hgvs_p": "p.Pro27Thr",
"transcript": "ENST00000399925.5",
"protein_id": "ENSP00000382809.1",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 142,
"cds_start": 79,
"cds_end": null,
"cds_length": 429,
"cdna_start": 208,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "n.168C>A",
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "n.158C>A",
"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": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.379C>A",
"hgvs_p": "p.Pro127Thr",
"transcript": "NM_001286634.2",
"protein_id": "NP_001273563.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 242,
"cds_start": 379,
"cds_end": null,
"cds_length": 729,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 2372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.379C>A",
"hgvs_p": "p.Pro127Thr",
"transcript": "NM_001371369.1",
"protein_id": "NP_001358298.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 242,
"cds_start": 379,
"cds_end": null,
"cds_length": 729,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.379C>A",
"hgvs_p": "p.Pro127Thr",
"transcript": "NM_020152.4",
"protein_id": "NP_064537.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 242,
"cds_start": 379,
"cds_end": null,
"cds_length": 729,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 2601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.262C>A",
"hgvs_p": "p.Pro88Thr",
"transcript": "NM_001371370.1",
"protein_id": "NP_001358299.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 203,
"cds_start": 262,
"cds_end": null,
"cds_length": 612,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.136C>A",
"hgvs_p": "p.Pro46Thr",
"transcript": "NM_001371371.1",
"protein_id": "NP_001358300.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 161,
"cds_start": 136,
"cds_end": null,
"cds_length": 486,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.79C>A",
"hgvs_p": "p.Pro27Thr",
"transcript": "NM_001286617.2",
"protein_id": "NP_001273546.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 142,
"cds_start": 79,
"cds_end": null,
"cds_length": 429,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 2610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.79C>A",
"hgvs_p": "p.Pro27Thr",
"transcript": "NM_001286618.2",
"protein_id": "NP_001273547.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 142,
"cds_start": 79,
"cds_end": null,
"cds_length": 429,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.79C>A",
"hgvs_p": "p.Pro27Thr",
"transcript": "NM_001286619.2",
"protein_id": "NP_001273548.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 142,
"cds_start": 79,
"cds_end": null,
"cds_length": 429,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.79C>A",
"hgvs_p": "p.Pro27Thr",
"transcript": "NM_001371372.1",
"protein_id": "NP_001358301.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 142,
"cds_start": 79,
"cds_end": null,
"cds_length": 429,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.79C>A",
"hgvs_p": "p.Pro27Thr",
"transcript": "NM_001371373.1",
"protein_id": "NP_001358302.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 142,
"cds_start": 79,
"cds_end": null,
"cds_length": 429,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 1616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.79C>A",
"hgvs_p": "p.Pro27Thr",
"transcript": "NM_001371374.1",
"protein_id": "NP_001358303.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 142,
"cds_start": 79,
"cds_end": null,
"cds_length": 429,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.79C>A",
"hgvs_p": "p.Pro27Thr",
"transcript": "ENST00000339024.8",
"protein_id": "ENSP00000345777.4",
"transcript_support_level": 2,
"aa_start": 27,
"aa_end": null,
"aa_length": 142,
"cds_start": 79,
"cds_end": null,
"cds_length": 429,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.79C>A",
"hgvs_p": "p.Pro27Thr",
"transcript": "ENST00000399926.5",
"protein_id": "ENSP00000382810.1",
"transcript_support_level": 3,
"aa_start": 27,
"aa_end": null,
"aa_length": 142,
"cds_start": 79,
"cds_end": null,
"cds_length": 429,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.79C>A",
"hgvs_p": "p.Pro27Thr",
"transcript": "ENST00000399934.5",
"protein_id": "ENSP00000382816.1",
"transcript_support_level": 2,
"aa_start": 27,
"aa_end": null,
"aa_length": 142,
"cds_start": 79,
"cds_end": null,
"cds_length": 429,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 1964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.79C>A",
"hgvs_p": "p.Pro27Thr",
"transcript": "ENST00000399935.6",
"protein_id": "ENSP00000382817.2",
"transcript_support_level": 2,
"aa_start": 27,
"aa_end": null,
"aa_length": 142,
"cds_start": 79,
"cds_end": null,
"cds_length": 429,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 2093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Pro21Thr",
"transcript": "NM_001286622.2",
"protein_id": "NP_001273551.1",
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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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"protein_coding": false,
"strand": true,
"consequences": [
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],
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},
{
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],
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},
{
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],
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"transcript": "NM_001371376.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "MAP3K7CL",
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"feature": null
}
],
"gene_symbol": "MAP3K7CL",
"gene_hgnc_id": 16457,
"dbsnp": "rs752198255",
"frequency_reference_population": 0.0000024787662,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000205281,
"gnomad_genomes_af": 0.00000656616,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04429921507835388,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.051,
"revel_prediction": "Benign",
"alphamissense_score": 0.0613,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.499,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001286620.2",
"gene_symbol": "MAP3K7CL",
"hgnc_id": 16457,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.79C>A",
"hgvs_p": "p.Pro27Thr"
}
],
"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
}