← 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: 11-46744548-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=46744548&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 46744548,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001008938.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5734G>T",
"hgvs_p": "p.Val1912Leu",
"transcript": "NM_001008938.4",
"protein_id": "NP_001008938.1",
"transcript_support_level": null,
"aa_start": 1912,
"aa_end": null,
"aa_length": 2032,
"cds_start": 5734,
"cds_end": null,
"cds_length": 6099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000529230.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008938.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5734G>T",
"hgvs_p": "p.Val1912Leu",
"transcript": "ENST00000529230.6",
"protein_id": "ENSP00000432768.1",
"transcript_support_level": 5,
"aa_start": 1912,
"aa_end": null,
"aa_length": 2032,
"cds_start": 5734,
"cds_end": null,
"cds_length": 6099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001008938.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529230.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5554G>T",
"hgvs_p": "p.Val1852Leu",
"transcript": "ENST00000354558.7",
"protein_id": "ENSP00000346566.3",
"transcript_support_level": 1,
"aa_start": 1852,
"aa_end": null,
"aa_length": 1972,
"cds_start": 5554,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354558.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "n.2713G>T",
"hgvs_p": null,
"transcript": "ENST00000533413.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000533413.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5761G>T",
"hgvs_p": "p.Val1921Leu",
"transcript": "ENST00000928128.1",
"protein_id": "ENSP00000598187.1",
"transcript_support_level": null,
"aa_start": 1921,
"aa_end": null,
"aa_length": 2041,
"cds_start": 5761,
"cds_end": null,
"cds_length": 6126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928128.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5755G>T",
"hgvs_p": "p.Val1919Leu",
"transcript": "ENST00000928119.1",
"protein_id": "ENSP00000598178.1",
"transcript_support_level": null,
"aa_start": 1919,
"aa_end": null,
"aa_length": 2039,
"cds_start": 5755,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928119.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5734G>T",
"hgvs_p": "p.Val1912Leu",
"transcript": "ENST00000874207.1",
"protein_id": "ENSP00000544266.1",
"transcript_support_level": null,
"aa_start": 1912,
"aa_end": null,
"aa_length": 2032,
"cds_start": 5734,
"cds_end": null,
"cds_length": 6099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874207.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5734G>T",
"hgvs_p": "p.Val1912Leu",
"transcript": "ENST00000874209.1",
"protein_id": "ENSP00000544268.1",
"transcript_support_level": null,
"aa_start": 1912,
"aa_end": null,
"aa_length": 2032,
"cds_start": 5734,
"cds_end": null,
"cds_length": 6099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874209.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5734G>T",
"hgvs_p": "p.Val1912Leu",
"transcript": "ENST00000928122.1",
"protein_id": "ENSP00000598181.1",
"transcript_support_level": null,
"aa_start": 1912,
"aa_end": null,
"aa_length": 2032,
"cds_start": 5734,
"cds_end": null,
"cds_length": 6099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928122.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5734G>T",
"hgvs_p": "p.Val1912Leu",
"transcript": "ENST00000928133.1",
"protein_id": "ENSP00000598192.1",
"transcript_support_level": null,
"aa_start": 1912,
"aa_end": null,
"aa_length": 2032,
"cds_start": 5734,
"cds_end": null,
"cds_length": 6099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928133.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5734G>T",
"hgvs_p": "p.Val1912Leu",
"transcript": "ENST00000928134.1",
"protein_id": "ENSP00000598193.1",
"transcript_support_level": null,
"aa_start": 1912,
"aa_end": null,
"aa_length": 2032,
"cds_start": 5734,
"cds_end": null,
"cds_length": 6099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928134.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5734G>T",
"hgvs_p": "p.Val1912Leu",
"transcript": "ENST00000968904.1",
"protein_id": "ENSP00000638963.1",
"transcript_support_level": null,
"aa_start": 1912,
"aa_end": null,
"aa_length": 2032,
"cds_start": 5734,
"cds_end": null,
"cds_length": 6099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968904.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5728G>T",
"hgvs_p": "p.Val1910Leu",
"transcript": "ENST00000968903.1",
"protein_id": "ENSP00000638962.1",
"transcript_support_level": null,
"aa_start": 1910,
"aa_end": null,
"aa_length": 2030,
"cds_start": 5728,
"cds_end": null,
"cds_length": 6093,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968903.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5692G>T",
"hgvs_p": "p.Val1898Leu",
"transcript": "ENST00000874208.1",
"protein_id": "ENSP00000544267.1",
"transcript_support_level": null,
"aa_start": 1898,
"aa_end": null,
"aa_length": 2018,
"cds_start": 5692,
"cds_end": null,
"cds_length": 6057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874208.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5656G>T",
"hgvs_p": "p.Val1886Leu",
"transcript": "ENST00000928127.1",
"protein_id": "ENSP00000598186.1",
"transcript_support_level": null,
"aa_start": 1886,
"aa_end": null,
"aa_length": 2006,
"cds_start": 5656,
"cds_end": null,
"cds_length": 6021,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928127.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5650G>T",
"hgvs_p": "p.Val1884Leu",
"transcript": "ENST00000928121.1",
"protein_id": "ENSP00000598180.1",
"transcript_support_level": null,
"aa_start": 1884,
"aa_end": null,
"aa_length": 2004,
"cds_start": 5650,
"cds_end": null,
"cds_length": 6015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928121.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5620G>T",
"hgvs_p": "p.Val1874Leu",
"transcript": "ENST00000928124.1",
"protein_id": "ENSP00000598183.1",
"transcript_support_level": null,
"aa_start": 1874,
"aa_end": null,
"aa_length": 1994,
"cds_start": 5620,
"cds_end": null,
"cds_length": 5985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928124.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5584G>T",
"hgvs_p": "p.Val1862Leu",
"transcript": "ENST00000928120.1",
"protein_id": "ENSP00000598179.1",
"transcript_support_level": null,
"aa_start": 1862,
"aa_end": null,
"aa_length": 1982,
"cds_start": 5584,
"cds_end": null,
"cds_length": 5949,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928120.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5554G>T",
"hgvs_p": "p.Val1852Leu",
"transcript": "NM_014756.4",
"protein_id": "NP_055571.2",
"transcript_support_level": null,
"aa_start": 1852,
"aa_end": null,
"aa_length": 1972,
"cds_start": 5554,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014756.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5554G>T",
"hgvs_p": "p.Val1852Leu",
"transcript": "ENST00000312055.9",
"protein_id": "ENSP00000310227.5",
"transcript_support_level": 5,
"aa_start": 1852,
"aa_end": null,
"aa_length": 1972,
"cds_start": 5554,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312055.9"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5548G>T",
"hgvs_p": "p.Val1850Leu",
"transcript": "ENST00000928123.1",
"protein_id": "ENSP00000598182.1",
"transcript_support_level": null,
"aa_start": 1850,
"aa_end": null,
"aa_length": 1970,
"cds_start": 5548,
"cds_end": null,
"cds_length": 5913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928123.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5536G>T",
"hgvs_p": "p.Val1846Leu",
"transcript": "ENST00000928132.1",
"protein_id": "ENSP00000598191.1",
"transcript_support_level": null,
"aa_start": 1846,
"aa_end": null,
"aa_length": 1966,
"cds_start": 5536,
"cds_end": null,
"cds_length": 5901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928132.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5527G>T",
"hgvs_p": "p.Val1843Leu",
"transcript": "ENST00000928131.1",
"protein_id": "ENSP00000598190.1",
"transcript_support_level": null,
"aa_start": 1843,
"aa_end": null,
"aa_length": 1963,
"cds_start": 5527,
"cds_end": null,
"cds_length": 5892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928131.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5470G>T",
"hgvs_p": "p.Val1824Leu",
"transcript": "ENST00000928129.1",
"protein_id": "ENSP00000598188.1",
"transcript_support_level": null,
"aa_start": 1824,
"aa_end": null,
"aa_length": 1944,
"cds_start": 5470,
"cds_end": null,
"cds_length": 5835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928129.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.5290G>T",
"hgvs_p": "p.Val1764Leu",
"transcript": "ENST00000928125.1",
"protein_id": "ENSP00000598184.1",
"transcript_support_level": null,
"aa_start": 1764,
"aa_end": null,
"aa_length": 1884,
"cds_start": 5290,
"cds_end": null,
"cds_length": 5655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928125.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.4393G>T",
"hgvs_p": "p.Val1465Leu",
"transcript": "ENST00000928126.1",
"protein_id": "ENSP00000598185.1",
"transcript_support_level": null,
"aa_start": 1465,
"aa_end": null,
"aa_length": 1585,
"cds_start": 4393,
"cds_end": null,
"cds_length": 4758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928126.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.2833G>T",
"hgvs_p": "p.Val945Leu",
"transcript": "ENST00000928130.1",
"protein_id": "ENSP00000598189.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1065,
"cds_start": 2833,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928130.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Val150Leu",
"transcript": "ENST00000525896.1",
"protein_id": "ENSP00000434523.1",
"transcript_support_level": 2,
"aa_start": 150,
"aa_end": null,
"aa_length": 202,
"cds_start": 448,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525896.1"
}
],
"gene_symbol": "CKAP5",
"gene_hgnc_id": 28959,
"dbsnp": "rs565252536",
"frequency_reference_population": 0.0000013681238,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136812,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05359417200088501,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.059,
"revel_prediction": "Benign",
"alphamissense_score": 0.0797,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.868,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001008938.4",
"gene_symbol": "CKAP5",
"hgnc_id": 28959,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5734G>T",
"hgvs_p": "p.Val1912Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}