← 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: 13-95586079-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=95586079&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 95586079,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_198968.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2276A>G",
"hgvs_p": "p.Asn759Ser",
"transcript": "NM_198968.4",
"protein_id": "NP_945319.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 867,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376829.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198968.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2276A>G",
"hgvs_p": "p.Asn759Ser",
"transcript": "ENST00000376829.7",
"protein_id": "ENSP00000366025.2",
"transcript_support_level": 1,
"aa_start": 759,
"aa_end": null,
"aa_length": 867,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198968.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376829.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2219A>G",
"hgvs_p": "p.Asn740Ser",
"transcript": "ENST00000361396.6",
"protein_id": "ENSP00000355175.2",
"transcript_support_level": 1,
"aa_start": 740,
"aa_end": null,
"aa_length": 848,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361396.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2330A>G",
"hgvs_p": "p.Asn777Ser",
"transcript": "ENST00000926439.1",
"protein_id": "ENSP00000596498.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 885,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926439.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2276A>G",
"hgvs_p": "p.Asn759Ser",
"transcript": "ENST00000347108.7",
"protein_id": "ENSP00000257312.5",
"transcript_support_level": 5,
"aa_start": 759,
"aa_end": null,
"aa_length": 867,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347108.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2276A>G",
"hgvs_p": "p.Asn759Ser",
"transcript": "ENST00000897707.1",
"protein_id": "ENSP00000567766.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 867,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897707.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2276A>G",
"hgvs_p": "p.Asn759Ser",
"transcript": "ENST00000897709.1",
"protein_id": "ENSP00000567768.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 867,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897709.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2276A>G",
"hgvs_p": "p.Asn759Ser",
"transcript": "ENST00000897710.1",
"protein_id": "ENSP00000567769.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 867,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897710.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2261A>G",
"hgvs_p": "p.Asn754Ser",
"transcript": "ENST00000897703.1",
"protein_id": "ENSP00000567762.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 862,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897703.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2219A>G",
"hgvs_p": "p.Asn740Ser",
"transcript": "NM_014934.5",
"protein_id": "NP_055749.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 848,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014934.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2219A>G",
"hgvs_p": "p.Asn740Ser",
"transcript": "ENST00000361156.7",
"protein_id": "ENSP00000355018.3",
"transcript_support_level": 5,
"aa_start": 740,
"aa_end": null,
"aa_length": 848,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361156.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2216A>G",
"hgvs_p": "p.Asn739Ser",
"transcript": "ENST00000897705.1",
"protein_id": "ENSP00000567764.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 847,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897705.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2216A>G",
"hgvs_p": "p.Asn739Ser",
"transcript": "ENST00000897706.1",
"protein_id": "ENSP00000567765.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 847,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897706.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2216A>G",
"hgvs_p": "p.Asn739Ser",
"transcript": "ENST00000897711.1",
"protein_id": "ENSP00000567770.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 847,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897711.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2201A>G",
"hgvs_p": "p.Asn734Ser",
"transcript": "ENST00000947291.1",
"protein_id": "ENSP00000617350.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 842,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947291.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2162A>G",
"hgvs_p": "p.Asn721Ser",
"transcript": "ENST00000897708.1",
"protein_id": "ENSP00000567767.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 829,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897708.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2159A>G",
"hgvs_p": "p.Asn720Ser",
"transcript": "ENST00000897712.1",
"protein_id": "ENSP00000567771.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 828,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897712.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2138A>G",
"hgvs_p": "p.Asn713Ser",
"transcript": "ENST00000897704.1",
"protein_id": "ENSP00000567763.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 821,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897704.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2138A>G",
"hgvs_p": "p.Asn713Ser",
"transcript": "ENST00000926437.1",
"protein_id": "ENSP00000596496.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 821,
"cds_start": 2138,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926437.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2123A>G",
"hgvs_p": "p.Asn708Ser",
"transcript": "ENST00000947292.1",
"protein_id": "ENSP00000617351.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 816,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947292.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2102A>G",
"hgvs_p": "p.Asn701Ser",
"transcript": "ENST00000947293.1",
"protein_id": "ENSP00000617352.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 809,
"cds_start": 2102,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947293.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2063A>G",
"hgvs_p": "p.Asn688Ser",
"transcript": "ENST00000926436.1",
"protein_id": "ENSP00000596495.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 796,
"cds_start": 2063,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926436.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2003A>G",
"hgvs_p": "p.Asn668Ser",
"transcript": "ENST00000926438.1",
"protein_id": "ENSP00000596497.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 776,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926438.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "XM_006719916.1",
"protein_id": "XP_006719979.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 932,
"cds_start": 2414,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719916.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "XM_047430165.1",
"protein_id": "XP_047286121.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 932,
"cds_start": 2414,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430165.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2399A>G",
"hgvs_p": "p.Asn800Ser",
"transcript": "XM_005254032.1",
"protein_id": "XP_005254089.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 927,
"cds_start": 2399,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254032.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2414A>G",
"hgvs_p": "p.Asn805Ser",
"transcript": "XM_006719917.3",
"protein_id": "XP_006719980.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 913,
"cds_start": 2414,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719917.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2354A>G",
"hgvs_p": "p.Asn785Ser",
"transcript": "XM_006719918.1",
"protein_id": "XP_006719981.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 912,
"cds_start": 2354,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719918.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2399A>G",
"hgvs_p": "p.Asn800Ser",
"transcript": "XM_047430166.1",
"protein_id": "XP_047286122.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 908,
"cds_start": 2399,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430166.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2339A>G",
"hgvs_p": "p.Asn780Ser",
"transcript": "XM_047430167.1",
"protein_id": "XP_047286123.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 907,
"cds_start": 2339,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430167.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2354A>G",
"hgvs_p": "p.Asn785Ser",
"transcript": "XM_017020444.2",
"protein_id": "XP_016875933.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 893,
"cds_start": 2354,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020444.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2339A>G",
"hgvs_p": "p.Asn780Ser",
"transcript": "XM_047430168.1",
"protein_id": "XP_047286124.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 888,
"cds_start": 2339,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430168.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2276A>G",
"hgvs_p": "p.Asn759Ser",
"transcript": "XM_006719920.1",
"protein_id": "XP_006719983.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 886,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719920.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2276A>G",
"hgvs_p": "p.Asn759Ser",
"transcript": "XM_047430169.1",
"protein_id": "XP_047286125.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 886,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430169.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2261A>G",
"hgvs_p": "p.Asn754Ser",
"transcript": "XM_047430170.1",
"protein_id": "XP_047286126.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 881,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430170.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2261A>G",
"hgvs_p": "p.Asn754Ser",
"transcript": "XM_047430171.1",
"protein_id": "XP_047286127.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 881,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430171.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2276A>G",
"hgvs_p": "p.Asn759Ser",
"transcript": "XM_047430172.1",
"protein_id": "XP_047286128.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 867,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430172.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2216A>G",
"hgvs_p": "p.Asn739Ser",
"transcript": "XM_047430173.1",
"protein_id": "XP_047286129.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 866,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430173.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2216A>G",
"hgvs_p": "p.Asn739Ser",
"transcript": "XM_047430174.1",
"protein_id": "XP_047286130.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 866,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430174.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2261A>G",
"hgvs_p": "p.Asn754Ser",
"transcript": "XM_047430175.1",
"protein_id": "XP_047286131.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 862,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430175.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2261A>G",
"hgvs_p": "p.Asn754Ser",
"transcript": "XM_047430176.1",
"protein_id": "XP_047286132.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 862,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430176.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.2201A>G",
"hgvs_p": "p.Asn734Ser",
"transcript": "XM_047430177.1",
"protein_id": "XP_047286133.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 861,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430177.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2216A>G",
"hgvs_p": "p.Asn739Ser",
"transcript": "XM_047430178.1",
"protein_id": "XP_047286134.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 847,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430178.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2216A>G",
"hgvs_p": "p.Asn739Ser",
"transcript": "XM_047430179.1",
"protein_id": "XP_047286135.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 847,
"cds_start": 2216,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430179.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2201A>G",
"hgvs_p": "p.Asn734Ser",
"transcript": "XM_047430180.1",
"protein_id": "XP_047286136.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 842,
"cds_start": 2201,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430180.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "c.1457A>G",
"hgvs_p": "p.Asn486Ser",
"transcript": "XM_047430181.1",
"protein_id": "XP_047286137.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 613,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "n.194A>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": null,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"hgvs_c": "n.653A>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485031.5"
}
],
"gene_symbol": "DZIP1",
"gene_hgnc_id": 20908,
"dbsnp": "rs747923671",
"frequency_reference_population": 6.850178e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85018e-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": 0.038495391607284546,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.04,
"revel_prediction": "Benign",
"alphamissense_score": 0.0791,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.149,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_198968.4",
"gene_symbol": "DZIP1",
"hgnc_id": 20908,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2276A>G",
"hgvs_p": "p.Asn759Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}