← 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: 7-74819984-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=74819984&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 74819984,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001368300.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Val204Ala",
"transcript": "NM_173537.5",
"protein_id": "NP_775808.4",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 949,
"cds_start": 611,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000451013.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173537.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Val204Ala",
"transcript": "ENST00000451013.7",
"protein_id": "ENSP00000406723.3",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 949,
"cds_start": 611,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173537.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451013.7"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289346",
"gene_hgnc_id": null,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Val204Ala",
"transcript": "ENST00000625377.3",
"protein_id": "ENSP00000486581.2",
"transcript_support_level": 5,
"aa_start": 204,
"aa_end": null,
"aa_length": 949,
"cds_start": 611,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625377.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.1097T>C",
"hgvs_p": "p.Val366Ala",
"transcript": "NM_001368300.2",
"protein_id": "NP_001355229.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1111,
"cds_start": 1097,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368300.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.1097T>C",
"hgvs_p": "p.Val366Ala",
"transcript": "ENST00000651129.1",
"protein_id": "ENSP00000498563.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1111,
"cds_start": 1097,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651129.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Val204Ala",
"transcript": "NM_001388079.1",
"protein_id": "NP_001375008.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 954,
"cds_start": 611,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388079.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Val204Ala",
"transcript": "ENST00000907795.1",
"protein_id": "ENSP00000577854.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 954,
"cds_start": 611,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907795.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Val204Ala",
"transcript": "NM_001388087.1",
"protein_id": "NP_001375016.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 932,
"cds_start": 611,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388087.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Val204Ala",
"transcript": "ENST00000966521.1",
"protein_id": "ENSP00000636580.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 932,
"cds_start": 611,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966521.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Val204Ala",
"transcript": "ENST00000966524.1",
"protein_id": "ENSP00000636583.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 930,
"cds_start": 611,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966524.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Val204Ala",
"transcript": "ENST00000907797.1",
"protein_id": "ENSP00000577856.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 928,
"cds_start": 611,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907797.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Val204Ala",
"transcript": "NM_001388080.1",
"protein_id": "NP_001375009.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 927,
"cds_start": 611,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388080.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Val204Ala",
"transcript": "ENST00000907800.1",
"protein_id": "ENSP00000577859.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 927,
"cds_start": 611,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907800.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Val204Ala",
"transcript": "NM_001388081.1",
"protein_id": "NP_001375010.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 923,
"cds_start": 611,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388081.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Val204Ala",
"transcript": "ENST00000907799.1",
"protein_id": "ENSP00000577858.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 923,
"cds_start": 611,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907799.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Val204Ala",
"transcript": "ENST00000907794.1",
"protein_id": "ENSP00000577853.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 921,
"cds_start": 611,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907794.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Val164Ala",
"transcript": "ENST00000966528.1",
"protein_id": "ENSP00000636587.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 909,
"cds_start": 491,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966528.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Val204Ala",
"transcript": "NM_001388082.1",
"protein_id": "NP_001375011.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 904,
"cds_start": 611,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388082.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.398T>C",
"hgvs_p": "p.Val133Ala",
"transcript": "ENST00000907798.1",
"protein_id": "ENSP00000577857.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 883,
"cds_start": 398,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907798.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.398T>C",
"hgvs_p": "p.Val133Ala",
"transcript": "NM_001388083.1",
"protein_id": "NP_001375012.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 878,
"cds_start": 398,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388083.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Val204Ala",
"transcript": "NM_001388084.1",
"protein_id": "NP_001375013.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 878,
"cds_start": 611,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388084.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.398T>C",
"hgvs_p": "p.Val133Ala",
"transcript": "ENST00000907793.1",
"protein_id": "ENSP00000577852.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 878,
"cds_start": 398,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907793.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Val204Ala",
"transcript": "ENST00000966525.1",
"protein_id": "ENSP00000636584.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 878,
"cds_start": 611,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966525.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.398T>C",
"hgvs_p": "p.Val133Ala",
"transcript": "ENST00000966527.1",
"protein_id": "ENSP00000636586.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 878,
"cds_start": 398,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966527.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.398T>C",
"hgvs_p": "p.Val133Ala",
"transcript": "ENST00000907803.1",
"protein_id": "ENSP00000577862.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 866,
"cds_start": 398,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907803.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.398T>C",
"hgvs_p": "p.Val133Ala",
"transcript": "ENST00000907801.1",
"protein_id": "ENSP00000577860.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 859,
"cds_start": 398,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907801.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.398T>C",
"hgvs_p": "p.Val133Ala",
"transcript": "ENST00000966526.1",
"protein_id": "ENSP00000636585.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 855,
"cds_start": 398,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966526.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Val93Ala",
"transcript": "ENST00000966522.1",
"protein_id": "ENSP00000636581.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 843,
"cds_start": 278,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966522.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Val93Ala",
"transcript": "ENST00000907796.1",
"protein_id": "ENSP00000577855.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 838,
"cds_start": 278,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907796.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.278T>C",
"hgvs_p": "p.Val93Ala",
"transcript": "ENST00000907802.1",
"protein_id": "ENSP00000577861.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 816,
"cds_start": 278,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907802.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.101T>C",
"hgvs_p": "p.Val34Ala",
"transcript": "NM_001388085.1",
"protein_id": "NP_001375014.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 784,
"cds_start": 101,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388085.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.101T>C",
"hgvs_p": "p.Val34Ala",
"transcript": "NM_001388086.1",
"protein_id": "NP_001375015.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 757,
"cds_start": 101,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388086.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Val204Ala",
"transcript": "NM_001388088.1",
"protein_id": "NP_001375017.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 450,
"cds_start": 611,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388088.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Val204Ala",
"transcript": "NM_001388089.1",
"protein_id": "NP_001375018.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 359,
"cds_start": 611,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388089.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.101T>C",
"hgvs_p": "p.Val34Ala",
"transcript": "NM_001388460.1",
"protein_id": "NP_001375389.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 280,
"cds_start": 101,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388460.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.101T>C",
"hgvs_p": "p.Val34Ala",
"transcript": "NM_001388461.1",
"protein_id": "NP_001375390.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 254,
"cds_start": 101,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388461.1"
},
{
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "c.239-7168T>C",
"hgvs_p": null,
"transcript": "ENST00000966523.1",
"protein_id": "ENSP00000636582.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": null,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966523.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "n.1241T>C",
"hgvs_p": null,
"transcript": "ENST00000484624.1",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000484624.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "n.926T>C",
"hgvs_p": null,
"transcript": "NR_170881.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170881.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "n.826T>C",
"hgvs_p": null,
"transcript": "NR_170882.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170882.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "n.826T>C",
"hgvs_p": null,
"transcript": "NR_170883.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170883.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "n.826T>C",
"hgvs_p": null,
"transcript": "NR_170884.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170884.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "n.2105T>C",
"hgvs_p": null,
"transcript": "NR_170885.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170885.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "n.826T>C",
"hgvs_p": null,
"transcript": "NR_170886.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170886.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "n.654T>C",
"hgvs_p": null,
"transcript": "NR_170887.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170887.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"hgvs_c": "n.654T>C",
"hgvs_p": null,
"transcript": "NR_170888.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_170888.1"
}
],
"gene_symbol": "GTF2IRD2",
"gene_hgnc_id": 30775,
"dbsnp": "rs1183463546",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.0000506091,
"gnomad_genomes_af": 0.0000338919,
"gnomad_exomes_ac": 73,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04546692967414856,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.012,
"revel_prediction": "Benign",
"alphamissense_score": 0.0827,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.464,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001368300.2",
"gene_symbol": "GTF2IRD2",
"hgnc_id": 30775,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1097T>C",
"hgvs_p": "p.Val366Ala"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000625377.3",
"gene_symbol": "ENSG00000289346",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Val204Ala"
}
],
"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
}