← 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: 2-218344473-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218344473&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218344473,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015488.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.887A>G",
"hgvs_p": "p.Glu296Gly",
"transcript": "NM_015488.5",
"protein_id": "NP_056303.3",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 385,
"cds_start": 887,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000273077.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015488.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.887A>G",
"hgvs_p": "p.Glu296Gly",
"transcript": "ENST00000273077.9",
"protein_id": "ENSP00000273077.4",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 385,
"cds_start": 887,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015488.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273077.9"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.815A>G",
"hgvs_p": "p.Glu272Gly",
"transcript": "ENST00000258362.7",
"protein_id": "ENSP00000258362.3",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 361,
"cds_start": 815,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258362.7"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.1004A>G",
"hgvs_p": "p.Glu335Gly",
"transcript": "ENST00000685415.1",
"protein_id": "ENSP00000510415.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 424,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685415.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.986A>G",
"hgvs_p": "p.Glu329Gly",
"transcript": "ENST00000901530.1",
"protein_id": "ENSP00000571589.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 418,
"cds_start": 986,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901530.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.917A>G",
"hgvs_p": "p.Glu306Gly",
"transcript": "ENST00000955416.1",
"protein_id": "ENSP00000625475.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 395,
"cds_start": 917,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955416.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.878A>G",
"hgvs_p": "p.Glu293Gly",
"transcript": "ENST00000436005.3",
"protein_id": "ENSP00000414400.3",
"transcript_support_level": 5,
"aa_start": 293,
"aa_end": null,
"aa_length": 382,
"cds_start": 878,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436005.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.815A>G",
"hgvs_p": "p.Glu272Gly",
"transcript": "NM_022572.4",
"protein_id": "NP_072094.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 361,
"cds_start": 815,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022572.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.800A>G",
"hgvs_p": "p.Glu267Gly",
"transcript": "ENST00000901529.1",
"protein_id": "ENSP00000571588.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 356,
"cds_start": 800,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901529.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.707A>G",
"hgvs_p": "p.Glu236Gly",
"transcript": "ENST00000687736.1",
"protein_id": "ENSP00000509627.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 325,
"cds_start": 707,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687736.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.527A>G",
"hgvs_p": "p.Glu176Gly",
"transcript": "ENST00000692295.1",
"protein_id": "ENSP00000509392.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 265,
"cds_start": 527,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692295.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.506A>G",
"hgvs_p": "p.Glu169Gly",
"transcript": "ENST00000691220.1",
"protein_id": "ENSP00000509580.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 258,
"cds_start": 506,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691220.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.800A>G",
"hgvs_p": "p.Glu267Gly",
"transcript": "XM_017003771.2",
"protein_id": "XP_016859260.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 356,
"cds_start": 800,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003771.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.728A>G",
"hgvs_p": "p.Glu243Gly",
"transcript": "XM_017003772.2",
"protein_id": "XP_016859261.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 332,
"cds_start": 728,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003772.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.869-18A>G",
"hgvs_p": null,
"transcript": "ENST00000689816.1",
"protein_id": "ENSP00000508450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": null,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689816.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "c.782-18A>G",
"hgvs_p": null,
"transcript": "ENST00000688179.1",
"protein_id": "ENSP00000508635.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": null,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688179.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "n.1645A>G",
"hgvs_p": null,
"transcript": "ENST00000684905.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000684905.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "n.1551A>G",
"hgvs_p": null,
"transcript": "ENST00000689098.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000689098.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "n.1684A>G",
"hgvs_p": null,
"transcript": "ENST00000689693.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000689693.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "n.*795A>G",
"hgvs_p": null,
"transcript": "ENST00000690891.1",
"protein_id": "ENSP00000509744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000690891.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "n.*12A>G",
"hgvs_p": null,
"transcript": "ENST00000693423.1",
"protein_id": "ENSP00000508705.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000693423.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "n.209A>G",
"hgvs_p": null,
"transcript": "ENST00000693556.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000693556.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "n.*795A>G",
"hgvs_p": null,
"transcript": "ENST00000690891.1",
"protein_id": "ENSP00000509744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000690891.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "n.*12A>G",
"hgvs_p": null,
"transcript": "ENST00000693423.1",
"protein_id": "ENSP00000508705.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000693423.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CATIP-AS2",
"gene_hgnc_id": 41079,
"hgvs_c": "n.146+6687T>C",
"hgvs_p": null,
"transcript": "ENST00000411433.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000411433.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"hgvs_c": "n.240-335A>G",
"hgvs_p": null,
"transcript": "ENST00000691799.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000691799.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CATIP-AS2",
"gene_hgnc_id": 41079,
"hgvs_c": "n.120+6687T>C",
"hgvs_p": null,
"transcript": "NR_125777.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_125777.1"
}
],
"gene_symbol": "PNKD",
"gene_hgnc_id": 9153,
"dbsnp": "rs202211738",
"frequency_reference_population": 0.00050598977,
"hom_count_reference_population": 12,
"allele_count_reference_population": 801,
"gnomad_exomes_af": 0.000531878,
"gnomad_genomes_af": 0.000262712,
"gnomad_exomes_ac": 761,
"gnomad_genomes_ac": 40,
"gnomad_exomes_homalt": 12,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01170426607131958,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.33000001311302185,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.453,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4221,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.164,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.33,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_015488.5",
"gene_symbol": "PNKD",
"hgnc_id": 9153,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.887A>G",
"hgvs_p": "p.Glu296Gly"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000411433.2",
"gene_symbol": "CATIP-AS2",
"hgnc_id": 41079,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.146+6687T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,Paroxysmal nonkinesigenic dyskinesia,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:2",
"phenotype_combined": "Paroxysmal nonkinesigenic dyskinesia|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}