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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: 1-244572425-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=244572425&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 244572425,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001130957.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1603A>C",
"hgvs_p": "p.Asn535His",
"transcript": "NM_001130957.2",
"protein_id": "NP_001124429.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 951,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": "ENST00000366534.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130957.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1603A>C",
"hgvs_p": "p.Asn535His",
"transcript": "ENST00000366534.9",
"protein_id": "ENSP00000355492.4",
"transcript_support_level": 2,
"aa_start": 535,
"aa_end": null,
"aa_length": 951,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2856,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": "NM_001130957.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366534.9"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1363A>C",
"hgvs_p": "p.Asn455His",
"transcript": "ENST00000428042.1",
"protein_id": "ENSP00000395796.1",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 871,
"cds_start": 1363,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428042.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1603A>C",
"hgvs_p": "p.Asn535His",
"transcript": "ENST00000366533.8",
"protein_id": "ENSP00000355491.4",
"transcript_support_level": 1,
"aa_start": 535,
"aa_end": null,
"aa_length": 832,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366533.8"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1603A>C",
"hgvs_p": "p.Asn535His",
"transcript": "NM_173807.5",
"protein_id": "NP_776168.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 832,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173807.5"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1150A>C",
"hgvs_p": "p.Asn384His",
"transcript": "NM_001242340.2",
"protein_id": "NP_001229269.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 800,
"cds_start": 1150,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 3284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242340.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1150A>C",
"hgvs_p": "p.Asn384His",
"transcript": "ENST00000366531.7",
"protein_id": "ENSP00000355489.3",
"transcript_support_level": 2,
"aa_start": 384,
"aa_end": null,
"aa_length": 800,
"cds_start": 1150,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 3038,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366531.7"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1624A>C",
"hgvs_p": "p.Asn542His",
"transcript": "XM_011544138.3",
"protein_id": "XP_011542440.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 958,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 4335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544138.3"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1612A>C",
"hgvs_p": "p.Asn538His",
"transcript": "XM_011544139.3",
"protein_id": "XP_011542441.2",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 954,
"cds_start": 1612,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 3387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544139.3"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1624A>C",
"hgvs_p": "p.Asn542His",
"transcript": "XM_017000943.2",
"protein_id": "XP_016856432.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 905,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 3945,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000943.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1414A>C",
"hgvs_p": "p.Asn472His",
"transcript": "XM_047417109.1",
"protein_id": "XP_047273065.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 888,
"cds_start": 1414,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 2449,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417109.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1393A>C",
"hgvs_p": "p.Asn465His",
"transcript": "XM_017000945.3",
"protein_id": "XP_016856434.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 881,
"cds_start": 1393,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 3226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000945.3"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1624A>C",
"hgvs_p": "p.Asn542His",
"transcript": "XM_017000947.2",
"protein_id": "XP_016856436.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 839,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 4177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000947.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1150A>C",
"hgvs_p": "p.Asn384His",
"transcript": "XM_011544142.4",
"protein_id": "XP_011542444.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 800,
"cds_start": 1150,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 3530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544142.4"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1150A>C",
"hgvs_p": "p.Asn384His",
"transcript": "XM_017000946.3",
"protein_id": "XP_016856435.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 800,
"cds_start": 1150,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 3407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000946.3"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1150A>C",
"hgvs_p": "p.Asn384His",
"transcript": "XM_024446278.2",
"protein_id": "XP_024302046.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 800,
"cds_start": 1150,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 3299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446278.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1150A>C",
"hgvs_p": "p.Asn384His",
"transcript": "XM_047417115.1",
"protein_id": "XP_047273071.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 800,
"cds_start": 1150,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417115.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1624A>C",
"hgvs_p": "p.Asn542His",
"transcript": "XM_017000951.2",
"protein_id": "XP_016856440.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 787,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000951.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1624A>C",
"hgvs_p": "p.Asn542His",
"transcript": "XM_047417117.1",
"protein_id": "XP_047273073.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 787,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2364,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 3534,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417117.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1045A>C",
"hgvs_p": "p.Asn349His",
"transcript": "XM_047417123.1",
"protein_id": "XP_047273079.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 765,
"cds_start": 1045,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417123.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1624A>C",
"hgvs_p": "p.Asn542His",
"transcript": "XM_017000952.2",
"protein_id": "XP_016856441.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 716,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 3254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000952.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"hgvs_c": "c.1624A>C",
"hgvs_p": "p.Asn542His",
"transcript": "XM_017000953.2",
"protein_id": "XP_016856442.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 714,
"cds_start": 1624,
"cds_end": null,
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{
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"protein_coding": true,
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],
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"biotype": "protein_coding",
"feature": "XM_047417127.1"
},
{
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"protein_coding": true,
"strand": true,
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],
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"exon_count": 11,
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"gene_symbol": "CATSPERE",
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"hgvs_c": "c.1393A>C",
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"feature": "XM_047417129.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"biotype": "pseudogene",
"feature": "ENST00000473875.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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},
{
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"non_coding_transcript_exon_variant"
],
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"biotype": "pseudogene",
"feature": "XR_001737096.2"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "CATSPERE",
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"transcript": "XR_001737099.2",
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"cds_end": null,
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "XR_001737099.2"
}
],
"gene_symbol": "CATSPERE",
"gene_hgnc_id": 28491,
"dbsnp": "rs767818910",
"frequency_reference_population": 0.000045433044,
"hom_count_reference_population": 1,
"allele_count_reference_population": 73,
"gnomad_exomes_af": 0.0000495003,
"gnomad_genomes_af": 0.00000656927,
"gnomad_exomes_ac": 72,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0673515796661377,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.1,
"revel_prediction": "Benign",
"alphamissense_score": 0.1707,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.725,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001130957.2",
"gene_symbol": "CATSPERE",
"hgnc_id": 28491,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1603A>C",
"hgvs_p": "p.Asn535His"
}
],
"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
}