← 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: 15-59650764-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=59650764&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 59650764,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004492.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "NM_004492.3",
"protein_id": "NP_004483.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 109,
"cds_start": 82,
"cds_end": null,
"cds_length": 330,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": "ENST00000396060.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004492.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000396060.7",
"protein_id": "ENSP00000379372.2",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 109,
"cds_start": 82,
"cds_end": null,
"cds_length": 330,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": "NM_004492.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396060.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "NM_001320929.2",
"protein_id": "NP_001307858.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 109,
"cds_start": 82,
"cds_end": null,
"cds_length": 330,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 1631,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320929.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "NM_001320930.2",
"protein_id": "NP_001307859.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 109,
"cds_start": 82,
"cds_end": null,
"cds_length": 330,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 1778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320930.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000396061.5",
"protein_id": "ENSP00000379373.1",
"transcript_support_level": 2,
"aa_start": 28,
"aa_end": null,
"aa_length": 109,
"cds_start": 82,
"cds_end": null,
"cds_length": 330,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396061.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000396063.5",
"protein_id": "ENSP00000379375.1",
"transcript_support_level": 2,
"aa_start": 28,
"aa_end": null,
"aa_length": 109,
"cds_start": 82,
"cds_end": null,
"cds_length": 330,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396063.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000885929.1",
"protein_id": "ENSP00000555988.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 109,
"cds_start": 82,
"cds_end": null,
"cds_length": 330,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 1045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885929.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000885930.1",
"protein_id": "ENSP00000555989.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 109,
"cds_start": 82,
"cds_end": null,
"cds_length": 330,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885930.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000885931.1",
"protein_id": "ENSP00000555990.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 109,
"cds_start": 82,
"cds_end": null,
"cds_length": 330,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885931.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000885932.1",
"protein_id": "ENSP00000555991.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 109,
"cds_start": 82,
"cds_end": null,
"cds_length": 330,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 766,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885932.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000885933.1",
"protein_id": "ENSP00000555992.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 109,
"cds_start": 82,
"cds_end": null,
"cds_length": 330,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 1148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885933.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000885934.1",
"protein_id": "ENSP00000555993.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 109,
"cds_start": 82,
"cds_end": null,
"cds_length": 330,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885934.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000885935.1",
"protein_id": "ENSP00000555994.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 109,
"cds_start": 82,
"cds_end": null,
"cds_length": 330,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 1101,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885935.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000933398.1",
"protein_id": "ENSP00000603457.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 109,
"cds_start": 82,
"cds_end": null,
"cds_length": 330,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 1171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933398.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000933399.1",
"protein_id": "ENSP00000603458.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 109,
"cds_start": 82,
"cds_end": null,
"cds_length": 330,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 1430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933399.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000933402.1",
"protein_id": "ENSP00000603461.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 109,
"cds_start": 82,
"cds_end": null,
"cds_length": 330,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 1210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933402.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000933396.1",
"protein_id": "ENSP00000603455.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 107,
"cds_start": 82,
"cds_end": null,
"cds_length": 324,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 1579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933396.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000396064.7",
"protein_id": "ENSP00000379376.3",
"transcript_support_level": 3,
"aa_start": 28,
"aa_end": null,
"aa_length": 68,
"cds_start": 82,
"cds_end": null,
"cds_length": 207,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396064.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Ile25Val",
"transcript": "ENST00000933400.1",
"protein_id": "ENSP00000603459.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 106,
"cds_start": 73,
"cds_end": null,
"cds_length": 321,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933400.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Ile25Val",
"transcript": "ENST00000933401.1",
"protein_id": "ENSP00000603460.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 106,
"cds_start": 73,
"cds_end": null,
"cds_length": 321,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 1001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933401.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.73A>G",
"hgvs_p": "p.Ile25Val",
"transcript": "ENST00000559706.1",
"protein_id": "ENSP00000452648.1",
"transcript_support_level": 2,
"aa_start": 25,
"aa_end": null,
"aa_length": 71,
"cds_start": 73,
"cds_end": null,
"cds_length": 217,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559706.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.72+1442A>G",
"hgvs_p": null,
"transcript": "ENST00000484743.5",
"protein_id": "ENSP00000418574.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 74,
"cds_start": null,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000484743.5"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.72+1442A>G",
"hgvs_p": null,
"transcript": "ENST00000933397.1",
"protein_id": "ENSP00000603456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 74,
"cds_start": null,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933397.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "c.72+1442A>G",
"hgvs_p": null,
"transcript": "ENST00000941618.1",
"protein_id": "ENSP00000611677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 74,
"cds_start": null,
"cds_end": null,
"cds_length": 225,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941618.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "n.71A>G",
"hgvs_p": null,
"transcript": "ENST00000559141.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 293,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000559141.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"hgvs_c": "n.92+6642A>G",
"hgvs_p": null,
"transcript": "ENST00000267869.8",
"protein_id": null,
"transcript_support_level": 3,
"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": 518,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000267869.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000227161",
"gene_hgnc_id": null,
"hgvs_c": "n.69-6438A>G",
"hgvs_p": null,
"transcript": "ENST00000441746.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 97,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000441746.1"
}
],
"gene_symbol": "GTF2A2",
"gene_hgnc_id": 4647,
"dbsnp": "rs776328805",
"frequency_reference_population": 0.000010062703,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000104322,
"gnomad_genomes_af": 0.00000657142,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7548277378082275,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.304,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5785,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.238,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.08,
"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,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004492.3",
"gene_symbol": "GTF2A2",
"hgnc_id": 4647,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000441746.1",
"gene_symbol": "ENSG00000227161",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.69-6438A>G",
"hgvs_p": null
}
],
"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
}