← 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: 6-97085171-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=97085171&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 97085171,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_052904.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Phe",
"transcript": "NM_052904.4",
"protein_id": "NP_443136.2",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 620,
"cds_start": 457,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 3698,
"mane_select": "ENST00000369261.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052904.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Phe",
"transcript": "ENST00000369261.9",
"protein_id": "ENSP00000358265.4",
"transcript_support_level": 2,
"aa_start": 153,
"aa_end": null,
"aa_length": 620,
"cds_start": 457,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 3698,
"mane_select": "NM_052904.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369261.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.-209C>T",
"hgvs_p": null,
"transcript": "ENST00000620278.1",
"protein_id": "ENSP00000482012.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620278.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Phe",
"transcript": "NM_001323252.2",
"protein_id": "NP_001310181.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 620,
"cds_start": 457,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323252.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Phe",
"transcript": "ENST00000951639.1",
"protein_id": "ENSP00000621698.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 620,
"cds_start": 457,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 1344,
"cdna_end": null,
"cdna_length": 4218,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951639.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Leu117Phe",
"transcript": "NM_001286250.2",
"protein_id": "NP_001273179.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 584,
"cds_start": 349,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 3590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286250.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.349C>T",
"hgvs_p": "p.Leu117Phe",
"transcript": "ENST00000536676.5",
"protein_id": "ENSP00000440382.1",
"transcript_support_level": 2,
"aa_start": 117,
"aa_end": null,
"aa_length": 584,
"cds_start": 349,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536676.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.265C>T",
"hgvs_p": "p.Leu89Phe",
"transcript": "NM_001323263.2",
"protein_id": "NP_001310192.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 556,
"cds_start": 265,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 3196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323263.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Leu84Phe",
"transcript": "NM_001286251.2",
"protein_id": "NP_001273180.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 551,
"cds_start": 250,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286251.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Leu84Phe",
"transcript": "ENST00000539200.5",
"protein_id": "ENSP00000441527.1",
"transcript_support_level": 2,
"aa_start": 84,
"aa_end": null,
"aa_length": 551,
"cds_start": 250,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 3600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539200.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Phe",
"transcript": "NM_001323253.2",
"protein_id": "NP_001310182.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 524,
"cds_start": 457,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 3410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323253.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Phe",
"transcript": "ENST00000859766.1",
"protein_id": "ENSP00000529825.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 524,
"cds_start": 457,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 3388,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859766.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Phe",
"transcript": "NM_001286252.2",
"protein_id": "NP_001273181.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 470,
"cds_start": 457,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286252.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Phe",
"transcript": "ENST00000859767.1",
"protein_id": "ENSP00000529826.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 358,
"cds_start": 457,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859767.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Phe",
"transcript": "NM_001323256.2",
"protein_id": "NP_001310185.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 280,
"cds_start": 457,
"cds_end": null,
"cds_length": 843,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323256.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Phe",
"transcript": "ENST00000951638.1",
"protein_id": "ENSP00000621697.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 262,
"cds_start": 457,
"cds_end": null,
"cds_length": 789,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951638.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"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": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Phe",
"transcript": "NM_001323258.2",
"protein_id": "NP_001310187.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 210,
"cds_start": 457,
"cds_end": null,
"cds_length": 633,
"cdna_start": 2673,
"cdna_end": null,
"cdna_length": 3800,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323258.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Phe",
"transcript": "NM_001323259.2",
"protein_id": "NP_001310188.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 210,
"cds_start": 457,
"cds_end": null,
"cds_length": 633,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323259.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Leu49Phe",
"transcript": "ENST00000447886.1",
"protein_id": "ENSP00000389310.1",
"transcript_support_level": 3,
"aa_start": 49,
"aa_end": null,
"aa_length": 176,
"cds_start": 145,
"cds_end": null,
"cds_length": 531,
"cdna_start": 145,
"cdna_end": null,
"cdna_length": 791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447886.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Leu84Phe",
"transcript": "XM_005266813.6",
"protein_id": "XP_005266870.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 551,
"cds_start": 250,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266813.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Leu84Phe",
"transcript": "XM_047418149.1",
"protein_id": "XP_047274105.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 455,
"cds_start": 250,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418149.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.-209C>T",
"hgvs_p": null,
"transcript": "NM_001323260.2",
"protein_id": "NP_001310189.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": null,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323260.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.-209C>T",
"hgvs_p": null,
"transcript": "NM_001323261.2",
"protein_id": "NP_001310190.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": null,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323261.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.-209C>T",
"hgvs_p": null,
"transcript": "NM_001323262.2",
"protein_id": "NP_001310191.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": null,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323262.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.-209C>T",
"hgvs_p": null,
"transcript": "NM_001286254.3",
"protein_id": "NP_001273183.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": null,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286254.3"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.411+20445C>T",
"hgvs_p": null,
"transcript": "NM_001323257.2",
"protein_id": "NP_001310186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 548,
"cds_start": null,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3482,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323257.2"
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.219+20445C>T",
"hgvs_p": null,
"transcript": "NM_001323264.2",
"protein_id": "NP_001310193.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 484,
"cds_start": null,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323264.2"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.411+20445C>T",
"hgvs_p": null,
"transcript": "NM_001323254.2",
"protein_id": "NP_001310183.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 452,
"cds_start": null,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323254.2"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.411+20445C>T",
"hgvs_p": null,
"transcript": "NM_001323255.2",
"protein_id": "NP_001310184.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 398,
"cds_start": null,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323255.2"
},
{
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.22+20445C>T",
"hgvs_p": null,
"transcript": "ENST00000544166.5",
"protein_id": "ENSP00000445453.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 176,
"cds_start": null,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2864,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544166.5"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.411+20445C>T",
"hgvs_p": null,
"transcript": "ENST00000369254.5",
"protein_id": "ENSP00000358258.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": null,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369254.5"
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.204+20445C>T",
"hgvs_p": null,
"transcript": "XM_017010228.3",
"protein_id": "XP_016865717.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": null,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010228.3"
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "c.204+20445C>T",
"hgvs_p": null,
"transcript": "XM_047418150.1",
"protein_id": "XP_047274106.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 383,
"cds_start": null,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418150.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "n.319C>T",
"hgvs_p": null,
"transcript": "NR_136579.2",
"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": 2469,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136579.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "n.821C>T",
"hgvs_p": null,
"transcript": "NR_136580.2",
"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": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136580.2"
},
{
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"hgvs_c": "n.775+20445C>T",
"hgvs_p": null,
"transcript": "NR_104421.2",
"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": 2755,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104421.2"
}
],
"gene_symbol": "KLHL32",
"gene_hgnc_id": 21221,
"dbsnp": "rs755470387",
"frequency_reference_population": 0.000020447667,
"hom_count_reference_population": 0,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.0000218916,
"gnomad_genomes_af": 0.00000657333,
"gnomad_exomes_ac": 32,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5421983599662781,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.196,
"revel_prediction": "Benign",
"alphamissense_score": 0.3066,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.642,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_052904.4",
"gene_symbol": "KLHL32",
"hgnc_id": 21221,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.457C>T",
"hgvs_p": "p.Leu153Phe"
}
],
"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
}