← 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: 12-6536494-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6536494&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6536494,
"ref": "A",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_002046.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "NM_002046.7",
"protein_id": "NP_002037.2",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 335,
"cds_start": 30,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000229239.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002046.7"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000229239.10",
"protein_id": "ENSP00000229239.5",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 335,
"cds_start": 30,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002046.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229239.10"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000396859.5",
"protein_id": "ENSP00000380068.1",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 335,
"cds_start": 30,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396859.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.-97A>T",
"hgvs_p": null,
"transcript": "NM_001256799.3",
"protein_id": "NP_001243728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256799.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.-97A>T",
"hgvs_p": null,
"transcript": "ENST00000396858.5",
"protein_id": "ENSP00000380067.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396858.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.-223A>T",
"hgvs_p": null,
"transcript": "ENST00000396856.5",
"protein_id": "ENSP00000380065.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 260,
"cds_start": null,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396856.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "NM_001289745.3",
"protein_id": "NP_001276674.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 335,
"cds_start": 30,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289745.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "NM_001289746.2",
"protein_id": "NP_001276675.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 335,
"cds_start": 30,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289746.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000396861.5",
"protein_id": "ENSP00000380070.1",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 335,
"cds_start": 30,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396861.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000889643.1",
"protein_id": "ENSP00000559702.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 335,
"cds_start": 30,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889643.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000889645.1",
"protein_id": "ENSP00000559704.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 335,
"cds_start": 30,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889645.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000889651.1",
"protein_id": "ENSP00000559710.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 335,
"cds_start": 30,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889651.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000920777.1",
"protein_id": "ENSP00000590836.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 335,
"cds_start": 30,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920777.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000889648.1",
"protein_id": "ENSP00000559707.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 331,
"cds_start": 30,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889648.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000889652.1",
"protein_id": "ENSP00000559711.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 331,
"cds_start": 30,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889652.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000920779.1",
"protein_id": "ENSP00000590838.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 330,
"cds_start": 30,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920779.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000889650.1",
"protein_id": "ENSP00000559709.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 327,
"cds_start": 30,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889650.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000889644.1",
"protein_id": "ENSP00000559703.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 325,
"cds_start": 30,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889644.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000889646.1",
"protein_id": "ENSP00000559705.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 324,
"cds_start": 30,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889646.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "NM_001357943.2",
"protein_id": "NP_001344872.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 317,
"cds_start": 30,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001357943.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000920791.1",
"protein_id": "ENSP00000590850.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 317,
"cds_start": 30,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920791.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000920790.1",
"protein_id": "ENSP00000590849.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 306,
"cds_start": 30,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920790.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000889649.1",
"protein_id": "ENSP00000559708.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 303,
"cds_start": 30,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889649.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000920792.1",
"protein_id": "ENSP00000590851.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 303,
"cds_start": 30,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920792.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000920782.1",
"protein_id": "ENSP00000590841.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 278,
"cds_start": 30,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920782.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000920788.1",
"protein_id": "ENSP00000590847.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 269,
"cds_start": 30,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920788.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000920785.1",
"protein_id": "ENSP00000590844.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 266,
"cds_start": 30,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920785.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000920781.1",
"protein_id": "ENSP00000590840.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 230,
"cds_start": 30,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920781.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000920783.1",
"protein_id": "ENSP00000590842.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 226,
"cds_start": 30,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920783.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000920784.1",
"protein_id": "ENSP00000590843.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 203,
"cds_start": 30,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920784.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000920780.1",
"protein_id": "ENSP00000590839.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 195,
"cds_start": 30,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920780.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000889642.1",
"protein_id": "ENSP00000559701.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 183,
"cds_start": 30,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889642.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000920776.1",
"protein_id": "ENSP00000590835.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 170,
"cds_start": 30,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920776.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000889647.1",
"protein_id": "ENSP00000559706.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 161,
"cds_start": 30,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889647.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000920787.1",
"protein_id": "ENSP00000590846.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 150,
"cds_start": 30,
"cds_end": null,
"cds_length": 453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920787.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly",
"transcript": "ENST00000920778.1",
"protein_id": "ENSP00000590837.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 101,
"cds_start": 30,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920778.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.-97A>T",
"hgvs_p": null,
"transcript": "NM_001256799.3",
"protein_id": "NP_001243728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256799.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.-97A>T",
"hgvs_p": null,
"transcript": "ENST00000396858.5",
"protein_id": "ENSP00000380067.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396858.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.-223A>T",
"hgvs_p": null,
"transcript": "ENST00000396856.5",
"protein_id": "ENSP00000380065.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 260,
"cds_start": null,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396856.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.10-259A>T",
"hgvs_p": null,
"transcript": "ENST00000920789.1",
"protein_id": "ENSP00000590848.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": null,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920789.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.16-607A>T",
"hgvs_p": null,
"transcript": "ENST00000965009.1",
"protein_id": "ENSP00000635068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": null,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965009.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.30-1607A>T",
"hgvs_p": null,
"transcript": "ENST00000920786.1",
"protein_id": "ENSP00000590845.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 32,
"cds_start": null,
"cds_end": null,
"cds_length": 99,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920786.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "n.71A>T",
"hgvs_p": null,
"transcript": "ENST00000466525.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000466525.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "n.109A>T",
"hgvs_p": null,
"transcript": "ENST00000466588.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000466588.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "n.82A>T",
"hgvs_p": null,
"transcript": "ENST00000474249.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000474249.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "n.220A>T",
"hgvs_p": null,
"transcript": "ENST00000492719.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000492719.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "n.106A>T",
"hgvs_p": null,
"transcript": "NR_152150.2",
"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_152150.2"
},
{
"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": "GAPDH",
"gene_hgnc_id": 4141,
"hgvs_c": "c.-111A>T",
"hgvs_p": null,
"transcript": "ENST00000619601.1",
"protein_id": "ENSP00000478864.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619601.1"
}
],
"gene_symbol": "GAPDH",
"gene_hgnc_id": 4141,
"dbsnp": null,
"frequency_reference_population": 6.847674e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84767e-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": -0.5600000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.006000000052154064,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.236,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000214628189738491,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_002046.7",
"gene_symbol": "GAPDH",
"hgnc_id": 4141,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.30A>T",
"hgvs_p": "p.Gly10Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}