← 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: 9-26946978-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=26946978&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 26946978,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001031689.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "NM_001031689.3",
"protein_id": "NP_001026859.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 795,
"cds_start": 68,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397292.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031689.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "ENST00000397292.8",
"protein_id": "ENSP00000380460.3",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 795,
"cds_start": 68,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001031689.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397292.8"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "ENST00000970093.1",
"protein_id": "ENSP00000640152.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 801,
"cds_start": 68,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970093.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "ENST00000970089.1",
"protein_id": "ENSP00000640148.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 789,
"cds_start": 68,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970089.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "ENST00000897951.1",
"protein_id": "ENSP00000568010.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 788,
"cds_start": 68,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897951.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "ENST00000970087.1",
"protein_id": "ENSP00000640146.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 775,
"cds_start": 68,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970087.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "NM_001321546.2",
"protein_id": "NP_001308475.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 772,
"cds_start": 68,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321546.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "ENST00000897950.1",
"protein_id": "ENSP00000568009.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 772,
"cds_start": 68,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897950.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "ENST00000897952.1",
"protein_id": "ENSP00000568011.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 772,
"cds_start": 68,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897952.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "ENST00000897953.1",
"protein_id": "ENSP00000568012.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 761,
"cds_start": 68,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897953.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "ENST00000929590.1",
"protein_id": "ENSP00000599649.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 749,
"cds_start": 68,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929590.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "ENST00000929589.1",
"protein_id": "ENSP00000599648.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 738,
"cds_start": 68,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929589.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "ENST00000970088.1",
"protein_id": "ENSP00000640147.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 738,
"cds_start": 68,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970088.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "ENST00000970090.1",
"protein_id": "ENSP00000640149.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 730,
"cds_start": 68,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970090.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "ENST00000970092.1",
"protein_id": "ENSP00000640151.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 706,
"cds_start": 68,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970092.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "ENST00000520884.5",
"protein_id": "ENSP00000429372.1",
"transcript_support_level": 2,
"aa_start": 23,
"aa_end": null,
"aa_length": 609,
"cds_start": 68,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520884.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.5G>T",
"hgvs_p": "p.Gly2Val",
"transcript": "ENST00000523212.1",
"protein_id": "ENSP00000428111.1",
"transcript_support_level": 3,
"aa_start": 2,
"aa_end": null,
"aa_length": 242,
"cds_start": 5,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523212.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "XM_047424083.1",
"protein_id": "XP_047280039.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 558,
"cds_start": 68,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424083.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "XM_017015319.3",
"protein_id": "XP_016870808.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 534,
"cds_start": 68,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015319.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val",
"transcript": "XM_011518072.4",
"protein_id": "XP_011516374.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 524,
"cds_start": 68,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518072.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"hgvs_c": "c.20+48G>T",
"hgvs_p": null,
"transcript": "ENST00000970091.1",
"protein_id": "ENSP00000640150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 752,
"cds_start": null,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970091.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT74",
"gene_hgnc_id": 21424,
"hgvs_c": "c.-188C>A",
"hgvs_p": null,
"transcript": "NM_001099223.3",
"protein_id": "NP_001092693.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"cds_start": null,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099223.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT74",
"gene_hgnc_id": 21424,
"hgvs_c": "c.-188C>A",
"hgvs_p": null,
"transcript": "ENST00000433700.5",
"protein_id": "ENSP00000389224.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"cds_start": null,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433700.5"
},
{
"aa_ref": null,
"aa_alt": null,
"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": "IFT74",
"gene_hgnc_id": 21424,
"hgvs_c": "c.-188C>A",
"hgvs_p": null,
"transcript": "ENST00000519968.5",
"protein_id": "ENSP00000430004.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": null,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519968.5"
}
],
"gene_symbol": "PLAA",
"gene_hgnc_id": 9043,
"dbsnp": "rs747956857",
"frequency_reference_population": 6.942786e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.94279e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8466448783874512,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.395,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9429,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.635,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001031689.3",
"gene_symbol": "PLAA",
"hgnc_id": 9043,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.68G>T",
"hgvs_p": "p.Gly23Val"
},
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001099223.3",
"gene_symbol": "IFT74",
"hgnc_id": 21424,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.-188C>A",
"hgvs_p": null
}
],
"clinvar_disease": " and brain anomalies, spasticity,Neurodevelopmental disorder with progressive microcephaly",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}