← 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: 1-101021729-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=101021729&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 101021729,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015958.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "NM_015958.3",
"protein_id": "NP_057042.2",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 285,
"cds_start": 172,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370109.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015958.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "ENST00000370109.8",
"protein_id": "ENSP00000359127.3",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 285,
"cds_start": 172,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015958.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370109.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "ENST00000427040.3",
"protein_id": "ENSP00000394364.3",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 285,
"cds_start": 172,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427040.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "ENST00000342173.11",
"protein_id": "ENSP00000339630.7",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 284,
"cds_start": 172,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342173.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "n.328A>G",
"hgvs_p": null,
"transcript": "ENST00000464270.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000464270.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.-168A>G",
"hgvs_p": null,
"transcript": "XM_011541570.4",
"protein_id": "XP_011539872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": null,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541570.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.-40A>G",
"hgvs_p": null,
"transcript": "XM_047422515.1",
"protein_id": "XP_047278471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": null,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422515.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "ENST00000889724.1",
"protein_id": "ENSP00000559783.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 341,
"cds_start": 172,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889724.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "ENST00000934684.1",
"protein_id": "ENSP00000604743.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 341,
"cds_start": 172,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934684.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "ENST00000889721.1",
"protein_id": "ENSP00000559780.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 326,
"cds_start": 172,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889721.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "ENST00000934683.1",
"protein_id": "ENSP00000604742.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 326,
"cds_start": 172,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934683.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "ENST00000934685.1",
"protein_id": "ENSP00000604744.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 325,
"cds_start": 172,
"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": "ENST00000934685.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "ENST00000934682.1",
"protein_id": "ENSP00000604741.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 292,
"cds_start": 172,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934682.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "NM_001077394.2",
"protein_id": "NP_001070862.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 285,
"cds_start": 172,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077394.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "ENST00000488176.1",
"protein_id": "ENSP00000418282.1",
"transcript_support_level": 3,
"aa_start": 58,
"aa_end": null,
"aa_length": 285,
"cds_start": 172,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488176.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "ENST00000889720.1",
"protein_id": "ENSP00000559779.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 285,
"cds_start": 172,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889720.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "ENST00000889722.1",
"protein_id": "ENSP00000559781.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 285,
"cds_start": 172,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889722.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "ENST00000889723.1",
"protein_id": "ENSP00000559782.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 285,
"cds_start": 172,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889723.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "NM_001077395.2",
"protein_id": "NP_001070863.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 284,
"cds_start": 172,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077395.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "ENST00000889726.1",
"protein_id": "ENSP00000559785.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 284,
"cds_start": 172,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889726.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "ENST00000934681.1",
"protein_id": "ENSP00000604740.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 284,
"cds_start": 172,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934681.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "ENST00000950006.1",
"protein_id": "ENSP00000620065.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 283,
"cds_start": 172,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950006.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "ENST00000889727.1",
"protein_id": "ENSP00000559786.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 237,
"cds_start": 172,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889727.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "ENST00000934686.1",
"protein_id": "ENSP00000604745.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 213,
"cds_start": 172,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934686.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"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": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "ENST00000889725.1",
"protein_id": "ENSP00000559784.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 195,
"cds_start": 172,
"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": "ENST00000889725.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "XM_047422513.1",
"protein_id": "XP_047278469.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 284,
"cds_start": 172,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422513.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "XM_005270938.3",
"protein_id": "XP_005270995.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 240,
"cds_start": 172,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270938.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "XM_024447600.2",
"protein_id": "XP_024303368.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 240,
"cds_start": 172,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447600.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly",
"transcript": "XM_047422514.1",
"protein_id": "XP_047278470.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 239,
"cds_start": 172,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422514.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.-168A>G",
"hgvs_p": null,
"transcript": "XM_011541570.4",
"protein_id": "XP_011539872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": null,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541570.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "c.-40A>G",
"hgvs_p": null,
"transcript": "XM_047422515.1",
"protein_id": "XP_047278471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": null,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422515.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "n.688A>G",
"hgvs_p": null,
"transcript": "ENST00000370105.7",
"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": "pseudogene",
"feature": "ENST00000370105.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "n.169A>G",
"hgvs_p": null,
"transcript": "ENST00000466807.5",
"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": "pseudogene",
"feature": "ENST00000466807.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "n.266A>G",
"hgvs_p": null,
"transcript": "ENST00000476507.1",
"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": "pseudogene",
"feature": "ENST00000476507.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "n.317A>G",
"hgvs_p": null,
"transcript": "ENST00000477293.5",
"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": "pseudogene",
"feature": "ENST00000477293.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "n.80A>G",
"hgvs_p": null,
"transcript": "ENST00000481871.5",
"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": "pseudogene",
"feature": "ENST00000481871.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "n.874A>G",
"hgvs_p": null,
"transcript": "ENST00000488789.5",
"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": "pseudogene",
"feature": "ENST00000488789.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "n.170A>G",
"hgvs_p": null,
"transcript": "ENST00000490732.5",
"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": "pseudogene",
"feature": "ENST00000490732.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "n.286A>G",
"hgvs_p": null,
"transcript": "ENST00000498372.5",
"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": "pseudogene",
"feature": "ENST00000498372.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "n.4074A>G",
"hgvs_p": null,
"transcript": "ENST00000690716.1",
"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": "retained_intron",
"feature": "ENST00000690716.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"hgvs_c": "n.-9A>G",
"hgvs_p": null,
"transcript": "ENST00000492067.5",
"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": "pseudogene",
"feature": "ENST00000492067.5"
}
],
"gene_symbol": "DPH5",
"gene_hgnc_id": 24270,
"dbsnp": "rs1456803031",
"frequency_reference_population": 0.000006572634,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657263,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9717386960983276,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.463,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9809,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.477,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_015958.3",
"gene_symbol": "DPH5",
"hgnc_id": 24270,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.172A>G",
"hgvs_p": "p.Arg58Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}