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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: 3-129440351-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=129440351&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 129440351,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_052985.4",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "NM_052989.3",
"protein_id": "NP_443715.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1241,
"cds_start": 21,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000348417.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052989.3"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "ENST00000348417.7",
"protein_id": "ENSP00000324005.4",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 1241,
"cds_start": 21,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052989.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348417.7"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "ENST00000296266.7",
"protein_id": "ENSP00000296266.3",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 1292,
"cds_start": 21,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296266.7"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "ENST00000507564.5",
"protein_id": "ENSP00000425536.1",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 1234,
"cds_start": 21,
"cds_end": null,
"cds_length": 3705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507564.5"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "ENST00000347300.6",
"protein_id": "ENSP00000323973.3",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 1182,
"cds_start": 21,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347300.6"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "ENST00000349441.6",
"protein_id": "ENSP00000324165.3",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 1131,
"cds_start": 21,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349441.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD4",
"gene_hgnc_id": 6919,
"hgvs_c": "c.-247C>G",
"hgvs_p": null,
"transcript": "ENST00000915033.1",
"protein_id": "ENSP00000585092.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 574,
"cds_start": null,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915033.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "NM_052985.4",
"protein_id": "NP_443711.2",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1292,
"cds_start": 21,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052985.4"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "ENST00000689643.1",
"protein_id": "ENSP00000509801.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1265,
"cds_start": 21,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689643.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "NM_001410808.1",
"protein_id": "NP_001397737.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1242,
"cds_start": 21,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410808.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "ENST00000692242.1",
"protein_id": "ENSP00000509878.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1242,
"cds_start": 21,
"cds_end": null,
"cds_length": 3729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692242.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "ENST00000875675.1",
"protein_id": "ENSP00000545734.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1241,
"cds_start": 21,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875675.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "NM_001280541.2",
"protein_id": "NP_001267470.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1234,
"cds_start": 21,
"cds_end": null,
"cds_length": 3705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001280541.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "ENST00000689313.1",
"protein_id": "ENSP00000509012.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1233,
"cds_start": 21,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689313.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "ENST00000957303.1",
"protein_id": "ENSP00000627362.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1228,
"cds_start": 21,
"cds_end": null,
"cds_length": 3687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957303.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "ENST00000687377.1",
"protein_id": "ENSP00000509225.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1224,
"cds_start": 21,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687377.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "NM_001410809.1",
"protein_id": "NP_001397738.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1223,
"cds_start": 21,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410809.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "ENST00000693129.1",
"protein_id": "ENSP00000509806.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1223,
"cds_start": 21,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693129.1"
},
{
"aa_ref": "W",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "ENST00000693489.1",
"protein_id": "ENSP00000509656.1",
"transcript_support_level": null,
"aa_start": 7,
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"cds_start": 21,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693489.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "ENST00000691733.1",
"protein_id": "ENSP00000509735.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1206,
"cds_start": 21,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691733.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "NM_001438637.1",
"protein_id": "NP_001425566.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1190,
"cds_start": 21,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438637.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys",
"transcript": "ENST00000690862.1",
"protein_id": "ENSP00000509210.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 1190,
"cds_start": 21,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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},
{
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"canonical": false,
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"strand": true,
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],
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"feature": "ENST00000693162.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
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"exon_count": 25,
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"gene_symbol": "IFT122",
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"transcript": "ENST00000687766.1",
"protein_id": "ENSP00000509886.1",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 31,
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"gene_symbol": "IFT122",
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"hgvs_c": "n.288+7119G>C",
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"transcript": "ENST00000687461.1",
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000687461.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "IFT122",
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"transcript": "ENST00000693654.1",
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"biotype": "pseudogene",
"feature": "ENST00000693654.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD4",
"gene_hgnc_id": 6919,
"hgvs_c": "c.-518C>G",
"hgvs_p": null,
"transcript": "ENST00000393278.6",
"protein_id": "ENSP00000376959.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
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"biotype": "protein_coding",
"feature": "ENST00000393278.6"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"hgvs_c": "n.-241G>C",
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"transcript": "ENST00000692508.1",
"protein_id": null,
"transcript_support_level": null,
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000692508.1"
}
],
"gene_symbol": "IFT122",
"gene_hgnc_id": 13556,
"dbsnp": "rs267607193",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6140058040618896,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.467,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9929,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.068,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_052985.4",
"gene_symbol": "IFT122",
"hgnc_id": 13556,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.21G>C",
"hgvs_p": "p.Trp7Cys"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000915033.1",
"gene_symbol": "MBD4",
"hgnc_id": 6919,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.-247C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Cranioectodermal dysplasia 1",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Cranioectodermal dysplasia 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}