← 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: 13-95587541-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=95587541&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 95587541,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_198968.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2216C>G",
"hgvs_p": "p.Ala739Gly",
"transcript": "NM_198968.4",
"protein_id": "NP_945319.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 867,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 3071,
"cdna_end": null,
"cdna_length": 7491,
"mane_select": "ENST00000376829.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198968.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2216C>G",
"hgvs_p": "p.Ala739Gly",
"transcript": "ENST00000376829.7",
"protein_id": "ENSP00000366025.2",
"transcript_support_level": 1,
"aa_start": 739,
"aa_end": null,
"aa_length": 867,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 3071,
"cdna_end": null,
"cdna_length": 7491,
"mane_select": "NM_198968.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376829.7"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2159C>G",
"hgvs_p": "p.Ala720Gly",
"transcript": "ENST00000361396.6",
"protein_id": "ENSP00000355175.2",
"transcript_support_level": 1,
"aa_start": 720,
"aa_end": null,
"aa_length": 848,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 2998,
"cdna_end": null,
"cdna_length": 7418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361396.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2270C>G",
"hgvs_p": "p.Ala757Gly",
"transcript": "ENST00000926439.1",
"protein_id": "ENSP00000596498.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 885,
"cds_start": 2270,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 2397,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926439.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2216C>G",
"hgvs_p": "p.Ala739Gly",
"transcript": "ENST00000347108.7",
"protein_id": "ENSP00000257312.5",
"transcript_support_level": 5,
"aa_start": 739,
"aa_end": null,
"aa_length": 867,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 2649,
"cdna_end": null,
"cdna_length": 7068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347108.7"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2216C>G",
"hgvs_p": "p.Ala739Gly",
"transcript": "ENST00000897707.1",
"protein_id": "ENSP00000567766.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 867,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 2993,
"cdna_end": null,
"cdna_length": 4499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897707.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2216C>G",
"hgvs_p": "p.Ala739Gly",
"transcript": "ENST00000897709.1",
"protein_id": "ENSP00000567768.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 867,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 3071,
"cdna_end": null,
"cdna_length": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897709.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2216C>G",
"hgvs_p": "p.Ala739Gly",
"transcript": "ENST00000897710.1",
"protein_id": "ENSP00000567769.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 867,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 3003,
"cdna_end": null,
"cdna_length": 4509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897710.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2201C>G",
"hgvs_p": "p.Ala734Gly",
"transcript": "ENST00000897703.1",
"protein_id": "ENSP00000567762.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 862,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 3090,
"cdna_end": null,
"cdna_length": 4596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897703.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2159C>G",
"hgvs_p": "p.Ala720Gly",
"transcript": "NM_014934.5",
"protein_id": "NP_055749.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 848,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 3014,
"cdna_end": null,
"cdna_length": 7434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014934.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2159C>G",
"hgvs_p": "p.Ala720Gly",
"transcript": "ENST00000361156.7",
"protein_id": "ENSP00000355018.3",
"transcript_support_level": 5,
"aa_start": 720,
"aa_end": null,
"aa_length": 848,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 2592,
"cdna_end": null,
"cdna_length": 7011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361156.7"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2156C>G",
"hgvs_p": "p.Ala719Gly",
"transcript": "ENST00000897705.1",
"protein_id": "ENSP00000567764.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 847,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 3011,
"cdna_end": null,
"cdna_length": 4523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897705.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2156C>G",
"hgvs_p": "p.Ala719Gly",
"transcript": "ENST00000897706.1",
"protein_id": "ENSP00000567765.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 847,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 4440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897706.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2156C>G",
"hgvs_p": "p.Ala719Gly",
"transcript": "ENST00000897711.1",
"protein_id": "ENSP00000567770.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 847,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 3689,
"cdna_end": null,
"cdna_length": 4355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897711.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2141C>G",
"hgvs_p": "p.Ala714Gly",
"transcript": "ENST00000947291.1",
"protein_id": "ENSP00000617350.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 842,
"cds_start": 2141,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2999,
"cdna_end": null,
"cdna_length": 4502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947291.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2102C>G",
"hgvs_p": "p.Ala701Gly",
"transcript": "ENST00000897708.1",
"protein_id": "ENSP00000567767.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 829,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 2957,
"cdna_end": null,
"cdna_length": 4463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897708.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2099C>G",
"hgvs_p": "p.Ala700Gly",
"transcript": "ENST00000897712.1",
"protein_id": "ENSP00000567771.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 828,
"cds_start": 2099,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2954,
"cdna_end": null,
"cdna_length": 3620,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897712.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2078C>G",
"hgvs_p": "p.Ala693Gly",
"transcript": "ENST00000897704.1",
"protein_id": "ENSP00000567763.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 821,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2866,
"cdna_end": null,
"cdna_length": 4371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897704.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2078C>G",
"hgvs_p": "p.Ala693Gly",
"transcript": "ENST00000926437.1",
"protein_id": "ENSP00000596496.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 821,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926437.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2063C>G",
"hgvs_p": "p.Ala688Gly",
"transcript": "ENST00000947292.1",
"protein_id": "ENSP00000617351.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 816,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2354,
"cdna_end": null,
"cdna_length": 5125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947292.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2042C>G",
"hgvs_p": "p.Ala681Gly",
"transcript": "ENST00000947293.1",
"protein_id": "ENSP00000617352.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 809,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947293.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2003C>G",
"hgvs_p": "p.Ala668Gly",
"transcript": "ENST00000926436.1",
"protein_id": "ENSP00000596495.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 796,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 2858,
"cdna_end": null,
"cdna_length": 4364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926436.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.1943C>G",
"hgvs_p": "p.Ala648Gly",
"transcript": "ENST00000926438.1",
"protein_id": "ENSP00000596497.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 776,
"cds_start": 1943,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 2647,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926438.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2354C>G",
"hgvs_p": "p.Ala785Gly",
"transcript": "XM_006719916.1",
"protein_id": "XP_006719979.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 932,
"cds_start": 2354,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 3209,
"cdna_end": null,
"cdna_length": 3675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719916.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2354C>G",
"hgvs_p": "p.Ala785Gly",
"transcript": "XM_047430165.1",
"protein_id": "XP_047286121.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 932,
"cds_start": 2354,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 3887,
"cdna_end": null,
"cdna_length": 4353,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430165.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2339C>G",
"hgvs_p": "p.Ala780Gly",
"transcript": "XM_005254032.1",
"protein_id": "XP_005254089.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 927,
"cds_start": 2339,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 3194,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254032.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2354C>G",
"hgvs_p": "p.Ala785Gly",
"transcript": "XM_006719917.3",
"protein_id": "XP_006719980.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 913,
"cds_start": 2354,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 3209,
"cdna_end": null,
"cdna_length": 7629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719917.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2294C>G",
"hgvs_p": "p.Ala765Gly",
"transcript": "XM_006719918.1",
"protein_id": "XP_006719981.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 912,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 3149,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719918.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2339C>G",
"hgvs_p": "p.Ala780Gly",
"transcript": "XM_047430166.1",
"protein_id": "XP_047286122.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 908,
"cds_start": 2339,
"cds_end": null,
"cds_length": 2727,
"cdna_start": 3194,
"cdna_end": null,
"cdna_length": 7614,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430166.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2279C>G",
"hgvs_p": "p.Ala760Gly",
"transcript": "XM_047430167.1",
"protein_id": "XP_047286123.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 907,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2724,
"cdna_start": 3134,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430167.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2294C>G",
"hgvs_p": "p.Ala765Gly",
"transcript": "XM_017020444.2",
"protein_id": "XP_016875933.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 893,
"cds_start": 2294,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 3149,
"cdna_end": null,
"cdna_length": 7569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020444.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2279C>G",
"hgvs_p": "p.Ala760Gly",
"transcript": "XM_047430168.1",
"protein_id": "XP_047286124.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 888,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 3134,
"cdna_end": null,
"cdna_length": 7554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430168.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2216C>G",
"hgvs_p": "p.Ala739Gly",
"transcript": "XM_006719920.1",
"protein_id": "XP_006719983.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 886,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 3071,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719920.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2216C>G",
"hgvs_p": "p.Ala739Gly",
"transcript": "XM_047430169.1",
"protein_id": "XP_047286125.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 886,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 3749,
"cdna_end": null,
"cdna_length": 4215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430169.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2201C>G",
"hgvs_p": "p.Ala734Gly",
"transcript": "XM_047430170.1",
"protein_id": "XP_047286126.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 881,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 3056,
"cdna_end": null,
"cdna_length": 3522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430170.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2201C>G",
"hgvs_p": "p.Ala734Gly",
"transcript": "XM_047430171.1",
"protein_id": "XP_047286127.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 881,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 3734,
"cdna_end": null,
"cdna_length": 4200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430171.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2216C>G",
"hgvs_p": "p.Ala739Gly",
"transcript": "XM_047430172.1",
"protein_id": "XP_047286128.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 867,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 3749,
"cdna_end": null,
"cdna_length": 8169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430172.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2156C>G",
"hgvs_p": "p.Ala719Gly",
"transcript": "XM_047430173.1",
"protein_id": "XP_047286129.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 866,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 3011,
"cdna_end": null,
"cdna_length": 3477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430173.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2156C>G",
"hgvs_p": "p.Ala719Gly",
"transcript": "XM_047430174.1",
"protein_id": "XP_047286130.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 866,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 3689,
"cdna_end": null,
"cdna_length": 4155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430174.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2201C>G",
"hgvs_p": "p.Ala734Gly",
"transcript": "XM_047430175.1",
"protein_id": "XP_047286131.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 862,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 3056,
"cdna_end": null,
"cdna_length": 7476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430175.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2201C>G",
"hgvs_p": "p.Ala734Gly",
"transcript": "XM_047430176.1",
"protein_id": "XP_047286132.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 862,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 3734,
"cdna_end": null,
"cdna_length": 8154,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430176.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2141C>G",
"hgvs_p": "p.Ala714Gly",
"transcript": "XM_047430177.1",
"protein_id": "XP_047286133.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 861,
"cds_start": 2141,
"cds_end": null,
"cds_length": 2586,
"cdna_start": 2996,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430177.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2156C>G",
"hgvs_p": "p.Ala719Gly",
"transcript": "XM_047430178.1",
"protein_id": "XP_047286134.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 847,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 3011,
"cdna_end": null,
"cdna_length": 7431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430178.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2156C>G",
"hgvs_p": "p.Ala719Gly",
"transcript": "XM_047430179.1",
"protein_id": "XP_047286135.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 847,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 3689,
"cdna_end": null,
"cdna_length": 8109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430179.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2141C>G",
"hgvs_p": "p.Ala714Gly",
"transcript": "XM_047430180.1",
"protein_id": "XP_047286136.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 842,
"cds_start": 2141,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2996,
"cdna_end": null,
"cdna_length": 7416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430180.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.1397C>G",
"hgvs_p": "p.Ala466Gly",
"transcript": "XM_047430181.1",
"protein_id": "XP_047286137.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 613,
"cds_start": 1397,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430181.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "n.134C>G",
"hgvs_p": null,
"transcript": "ENST00000479518.1",
"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": 600,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000479518.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "n.593C>G",
"hgvs_p": null,
"transcript": "ENST00000485031.5",
"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": 1245,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485031.5"
}
],
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"dbsnp": "rs1159736769",
"frequency_reference_population": 6.8420604e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84206e-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": 0.09044429659843445,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.024000000208616257,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.039,
"revel_prediction": "Benign",
"alphamissense_score": 0.0936,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.307,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000266346847512299,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_198968.4",
"gene_symbol": "DZIP1",
"hgnc_id": 20908,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2216C>G",
"hgvs_p": "p.Ala739Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}