← 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: 22-20465035-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=20465035&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 20465035,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032775.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Thr312Asn",
"transcript": "NM_032775.4",
"protein_id": "NP_116164.2",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 634,
"cds_start": 935,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": "ENST00000328879.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032775.4"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Thr312Asn",
"transcript": "ENST00000328879.9",
"protein_id": "ENSP00000331682.4",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 634,
"cds_start": 935,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1004,
"cdna_end": null,
"cdna_length": 2528,
"mane_select": "NM_032775.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328879.9"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Thr312Asn",
"transcript": "ENST00000871932.1",
"protein_id": "ENSP00000541991.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 634,
"cds_start": 935,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 2570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871932.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Thr312Asn",
"transcript": "ENST00000871933.1",
"protein_id": "ENSP00000541992.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 634,
"cds_start": 935,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 2531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871933.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Thr312Asn",
"transcript": "ENST00000871934.1",
"protein_id": "ENSP00000541993.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 634,
"cds_start": 935,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871934.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Thr312Asn",
"transcript": "ENST00000871935.1",
"protein_id": "ENSP00000541994.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 634,
"cds_start": 935,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1304,
"cdna_end": null,
"cdna_length": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871935.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Thr312Asn",
"transcript": "ENST00000871937.1",
"protein_id": "ENSP00000541996.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 634,
"cds_start": 935,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1795,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871937.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Thr312Asn",
"transcript": "ENST00000871938.1",
"protein_id": "ENSP00000541997.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 634,
"cds_start": 935,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2663,
"cdna_end": null,
"cdna_length": 4187,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871938.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Thr312Asn",
"transcript": "ENST00000871939.1",
"protein_id": "ENSP00000541998.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 634,
"cds_start": 935,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 2995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871939.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Thr312Asn",
"transcript": "ENST00000871940.1",
"protein_id": "ENSP00000541999.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 634,
"cds_start": 935,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871940.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Thr312Asn",
"transcript": "ENST00000912749.1",
"protein_id": "ENSP00000582808.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 634,
"cds_start": 935,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 971,
"cdna_end": null,
"cdna_length": 2482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912749.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Thr312Asn",
"transcript": "ENST00000912751.1",
"protein_id": "ENSP00000582810.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 634,
"cds_start": 935,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912751.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Thr312Asn",
"transcript": "ENST00000957182.1",
"protein_id": "ENSP00000627241.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 634,
"cds_start": 935,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2990,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957182.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Thr312Asn",
"transcript": "ENST00000957183.1",
"protein_id": "ENSP00000627242.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 634,
"cds_start": 935,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1297,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957183.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Thr312Asn",
"transcript": "ENST00000957184.1",
"protein_id": "ENSP00000627243.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 634,
"cds_start": 935,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 2947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957184.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Thr312Asn",
"transcript": "ENST00000957185.1",
"protein_id": "ENSP00000627244.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 634,
"cds_start": 935,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957185.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Thr312Asn",
"transcript": "ENST00000957186.1",
"protein_id": "ENSP00000627245.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 634,
"cds_start": 935,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1918,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957186.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1079C>A",
"hgvs_p": "p.Thr360Asn",
"transcript": "XM_017029019.3",
"protein_id": "XP_016884508.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 682,
"cds_start": 1079,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029019.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.1031C>A",
"hgvs_p": "p.Thr344Asn",
"transcript": "XM_017029020.3",
"protein_id": "XP_016884509.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 666,
"cds_start": 1031,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 3061,
"cdna_end": null,
"cdna_length": 4585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029020.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Thr312Asn",
"transcript": "XM_017029021.3",
"protein_id": "XP_016884510.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 634,
"cds_start": 935,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 2496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029021.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.881C>A",
"hgvs_p": "p.Thr294Asn",
"transcript": "XM_017029022.2",
"protein_id": "XP_016884511.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 616,
"cds_start": 881,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029022.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.833C>A",
"hgvs_p": "p.Thr278Asn",
"transcript": "XM_017029023.2",
"protein_id": "XP_016884512.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 600,
"cds_start": 833,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 4144,
"cdna_end": null,
"cdna_length": 5668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029023.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.815C>A",
"hgvs_p": "p.Thr272Asn",
"transcript": "XM_017029024.2",
"protein_id": "XP_016884513.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 594,
"cds_start": 815,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029024.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.704C>A",
"hgvs_p": "p.Thr235Asn",
"transcript": "XM_017029025.2",
"protein_id": "XP_016884514.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 557,
"cds_start": 704,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 2268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029025.2"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.506C>A",
"hgvs_p": "p.Thr169Asn",
"transcript": "XM_017029018.3",
"protein_id": "XP_016884507.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 491,
"cds_start": 506,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029018.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.893+42C>A",
"hgvs_p": null,
"transcript": "ENST00000871936.1",
"protein_id": "ENSP00000541995.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871936.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.228-7035C>A",
"hgvs_p": null,
"transcript": "ENST00000912750.1",
"protein_id": "ENSP00000582809.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912750.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "n.1001C>A",
"hgvs_p": null,
"transcript": "ENST00000479601.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1389,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479601.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "n.838C>A",
"hgvs_p": null,
"transcript": "NR_033825.2",
"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": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_033825.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "n.1004C>A",
"hgvs_p": null,
"transcript": "XR_001755341.3",
"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": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001755341.3"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "n.153+299C>A",
"hgvs_p": null,
"transcript": "ENST00000487090.1",
"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": 596,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000487090.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124905085",
"gene_hgnc_id": null,
"hgvs_c": "n.132+3929G>T",
"hgvs_p": null,
"transcript": "XR_007068014.1",
"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": 525,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007068014.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.*145C>A",
"hgvs_p": null,
"transcript": "ENST00000444967.5",
"protein_id": "ENSP00000403999.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 294,
"cds_start": null,
"cds_end": null,
"cds_length": 886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444967.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.*230C>A",
"hgvs_p": null,
"transcript": "ENST00000458248.5",
"protein_id": "ENSP00000398616.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 742,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458248.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"hgvs_c": "c.*27C>A",
"hgvs_p": null,
"transcript": "ENST00000451553.1",
"protein_id": "ENSP00000400095.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": null,
"cds_end": null,
"cds_length": 677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451553.1"
}
],
"gene_symbol": "KLHL22",
"gene_hgnc_id": 25888,
"dbsnp": "rs774765494",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16129997372627258,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.114,
"revel_prediction": "Benign",
"alphamissense_score": 0.1384,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.915,
"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": 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_032775.4",
"gene_symbol": "KLHL22",
"hgnc_id": 25888,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.935C>A",
"hgvs_p": "p.Thr312Asn"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007068014.1",
"gene_symbol": "LOC124905085",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.132+3929G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}