← 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: 3-124269108-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=124269108&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 124269108,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001024660.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "NM_001388419.1",
"protein_id": "NP_001375348.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 2986,
"cds_start": 822,
"cds_end": null,
"cds_length": 8961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682506.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388419.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "ENST00000682506.1",
"protein_id": "ENSP00000508359.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 2986,
"cds_start": 822,
"cds_end": null,
"cds_length": 8961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001388419.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682506.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.816T>C",
"hgvs_p": "p.Ala272Ala",
"transcript": "ENST00000240874.7",
"protein_id": "ENSP00000240874.3",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 1663,
"cds_start": 816,
"cds_end": null,
"cds_length": 4992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000240874.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.816T>C",
"hgvs_p": "p.Ala272Ala",
"transcript": "ENST00000460856.5",
"protein_id": "ENSP00000418611.1",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 1654,
"cds_start": 816,
"cds_end": null,
"cds_length": 4965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460856.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.816T>C",
"hgvs_p": "p.Ala272Ala",
"transcript": "NM_001024660.5",
"protein_id": "NP_001019831.2",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 2986,
"cds_start": 816,
"cds_end": null,
"cds_length": 8961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024660.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.816T>C",
"hgvs_p": "p.Ala272Ala",
"transcript": "ENST00000360013.7",
"protein_id": "ENSP00000353109.3",
"transcript_support_level": 5,
"aa_start": 272,
"aa_end": null,
"aa_length": 2986,
"cds_start": 816,
"cds_end": null,
"cds_length": 8961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360013.7"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.747T>C",
"hgvs_p": "p.Ala249Ala",
"transcript": "ENST00000354186.8",
"protein_id": "ENSP00000346122.4",
"transcript_support_level": 5,
"aa_start": 249,
"aa_end": null,
"aa_length": 2954,
"cds_start": 747,
"cds_end": null,
"cds_length": 8865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354186.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.816T>C",
"hgvs_p": "p.Ala272Ala",
"transcript": "NM_001322988.2",
"protein_id": "NP_001309917.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 2396,
"cds_start": 816,
"cds_end": null,
"cds_length": 7191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322988.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "NM_001388417.1",
"protein_id": "NP_001375346.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 1665,
"cds_start": 822,
"cds_end": null,
"cds_length": 4998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388417.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.816T>C",
"hgvs_p": "p.Ala272Ala",
"transcript": "NM_003947.6",
"protein_id": "NP_003938.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 1663,
"cds_start": 816,
"cds_end": null,
"cds_length": 4992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003947.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "NM_001388418.1",
"protein_id": "NP_001375347.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 1656,
"cds_start": 822,
"cds_end": null,
"cds_length": 4971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388418.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.816T>C",
"hgvs_p": "p.Ala272Ala",
"transcript": "NM_001322989.2",
"protein_id": "NP_001309918.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 1654,
"cds_start": 816,
"cds_end": null,
"cds_length": 4965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322989.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.816T>C",
"hgvs_p": "p.Ala272Ala",
"transcript": "NM_001322990.2",
"protein_id": "NP_001309919.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 1650,
"cds_start": 816,
"cds_end": null,
"cds_length": 4953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322990.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.816T>C",
"hgvs_p": "p.Ala272Ala",
"transcript": "NM_001322991.2",
"protein_id": "NP_001309920.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 1641,
"cds_start": 816,
"cds_end": null,
"cds_length": 4926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322991.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.816T>C",
"hgvs_p": "p.Ala272Ala",
"transcript": "NM_001322992.2",
"protein_id": "NP_001309921.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 1613,
"cds_start": 816,
"cds_end": null,
"cds_length": 4842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322992.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.816T>C",
"hgvs_p": "p.Ala272Ala",
"transcript": "ENST00000684276.1",
"protein_id": "ENSP00000508068.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 1613,
"cds_start": 816,
"cds_end": null,
"cds_length": 4842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684276.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.816T>C",
"hgvs_p": "p.Ala272Ala",
"transcript": "ENST00000684186.1",
"protein_id": "ENSP00000507078.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 1198,
"cds_start": 816,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684186.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_006713810.4",
"protein_id": "XP_006713873.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 2988,
"cds_start": 822,
"cds_end": null,
"cds_length": 8967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713810.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_011513279.3",
"protein_id": "XP_011511581.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 2987,
"cds_start": 822,
"cds_end": null,
"cds_length": 8964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513279.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_011513280.3",
"protein_id": "XP_011511582.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 2987,
"cds_start": 822,
"cds_end": null,
"cds_length": 8964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513280.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_006713811.4",
"protein_id": "XP_006713874.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 2979,
"cds_start": 822,
"cds_end": null,
"cds_length": 8940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713811.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.816T>C",
"hgvs_p": "p.Ala272Ala",
"transcript": "XM_011513281.4",
"protein_id": "XP_011511583.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 2977,
"cds_start": 816,
"cds_end": null,
"cds_length": 8934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513281.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_006713812.4",
"protein_id": "XP_006713875.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 2975,
"cds_start": 822,
"cds_end": null,
"cds_length": 8928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713812.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_017007429.2",
"protein_id": "XP_016862918.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 2968,
"cds_start": 822,
"cds_end": null,
"cds_length": 8907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007429.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_047449157.1",
"protein_id": "XP_047305113.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 2967,
"cds_start": 822,
"cds_end": null,
"cds_length": 8904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449157.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_006713813.4",
"protein_id": "XP_006713876.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 2966,
"cds_start": 822,
"cds_end": null,
"cds_length": 8901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713813.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_006713814.4",
"protein_id": "XP_006713877.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 2956,
"cds_start": 822,
"cds_end": null,
"cds_length": 8871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713814.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_017007430.2",
"protein_id": "XP_016862919.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 2955,
"cds_start": 822,
"cds_end": null,
"cds_length": 8868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007430.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_047449158.1",
"protein_id": "XP_047305114.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 2955,
"cds_start": 822,
"cds_end": null,
"cds_length": 8868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449158.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_047449159.1",
"protein_id": "XP_047305115.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 2942,
"cds_start": 822,
"cds_end": null,
"cds_length": 8829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449159.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_047449160.1",
"protein_id": "XP_047305116.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 2493,
"cds_start": 822,
"cds_end": null,
"cds_length": 7482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449160.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_047449161.1",
"protein_id": "XP_047305117.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 2474,
"cds_start": 822,
"cds_end": null,
"cds_length": 7425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449161.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_011513283.3",
"protein_id": "XP_011511585.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 2401,
"cds_start": 822,
"cds_end": null,
"cds_length": 7206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513283.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_047449162.1",
"protein_id": "XP_047305118.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 2399,
"cds_start": 822,
"cds_end": null,
"cds_length": 7200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449162.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_024453811.2",
"protein_id": "XP_024309579.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 2357,
"cds_start": 822,
"cds_end": null,
"cds_length": 7074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453811.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_047449163.1",
"protein_id": "XP_047305119.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 2353,
"cds_start": 822,
"cds_end": null,
"cds_length": 7062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449163.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_017007434.3",
"protein_id": "XP_016862923.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 1652,
"cds_start": 822,
"cds_end": null,
"cds_length": 4959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007434.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_017007435.3",
"protein_id": "XP_016862924.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 1643,
"cds_start": 822,
"cds_end": null,
"cds_length": 4932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007435.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.822T>C",
"hgvs_p": "p.Ala274Ala",
"transcript": "XM_047449165.1",
"protein_id": "XP_047305121.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 1530,
"cds_start": 822,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449165.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "n.518T>C",
"hgvs_p": null,
"transcript": "ENST00000498499.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000498499.1"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "n.515T>C",
"hgvs_p": null,
"transcript": "ENST00000683124.1",
"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": "ENST00000683124.1"
},
{
"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": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "n.899T>C",
"hgvs_p": null,
"transcript": "ENST00000683592.1",
"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": "ENST00000683592.1"
}
],
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"dbsnp": "rs145330536",
"frequency_reference_population": 0.00007996419,
"hom_count_reference_population": 0,
"allele_count_reference_population": 129,
"gnomad_exomes_af": 0.0000397021,
"gnomad_genomes_af": 0.000466057,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 71,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07900000363588333,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.079,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.417,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001024660.5",
"gene_symbol": "KALRN",
"hgnc_id": 4814,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.816T>C",
"hgvs_p": "p.Ala272Ala"
}
],
"clinvar_disease": "KALRN-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "KALRN-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}