← 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: 21-33827478-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=33827478&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 33827478,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000381318.8",
"consequences": [
{
"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": 40,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3229+615G>A",
"hgvs_p": null,
"transcript": "NM_003024.3",
"protein_id": "NP_003015.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1721,
"cds_start": -4,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16972,
"mane_select": "ENST00000381318.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3229+615G>A",
"hgvs_p": null,
"transcript": "ENST00000381318.8",
"protein_id": "ENSP00000370719.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1721,
"cds_start": -4,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16972,
"mane_select": "NM_003024.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 39,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3214+615G>A",
"hgvs_p": null,
"transcript": "ENST00000399367.7",
"protein_id": "ENSP00000382301.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1716,
"cds_start": -4,
"cds_end": null,
"cds_length": 5151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3229+615G>A",
"hgvs_p": null,
"transcript": "ENST00000381291.8",
"protein_id": "ENSP00000370691.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1220,
"cds_start": -4,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3214+615G>A",
"hgvs_p": null,
"transcript": "ENST00000399352.5",
"protein_id": "ENSP00000382289.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1215,
"cds_start": -4,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3103+615G>A",
"hgvs_p": null,
"transcript": "ENST00000399353.5",
"protein_id": "ENSP00000382290.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1178,
"cds_start": -4,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3017-2146G>A",
"hgvs_p": null,
"transcript": "ENST00000399355.6",
"protein_id": "ENSP00000382292.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1149,
"cds_start": -4,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3002-2146G>A",
"hgvs_p": null,
"transcript": "ENST00000399349.5",
"protein_id": "ENSP00000382286.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1144,
"cds_start": -4,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000249209",
"gene_hgnc_id": null,
"hgvs_c": "c.441+79863C>T",
"hgvs_p": null,
"transcript": "ENST00000429238.2",
"protein_id": "ENSP00000394107.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": -4,
"cds_end": null,
"cds_length": 727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "n.150+615G>A",
"hgvs_p": null,
"transcript": "ENST00000428240.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "n.743+615G>A",
"hgvs_p": null,
"transcript": "ENST00000487427.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 39,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3214+615G>A",
"hgvs_p": null,
"transcript": "NM_001331010.2",
"protein_id": "NP_001317939.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1716,
"cds_start": -4,
"cds_end": null,
"cds_length": 5151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3229+615G>A",
"hgvs_p": null,
"transcript": "NM_001001132.2",
"protein_id": "NP_001001132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1220,
"cds_start": -4,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3214+615G>A",
"hgvs_p": null,
"transcript": "NM_001331009.2",
"protein_id": "NP_001317938.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1215,
"cds_start": -4,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3103+615G>A",
"hgvs_p": null,
"transcript": "NM_001331012.2",
"protein_id": "NP_001317941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1178,
"cds_start": -4,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3017-2146G>A",
"hgvs_p": null,
"transcript": "NM_001331008.2",
"protein_id": "NP_001317937.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1149,
"cds_start": -4,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3002-2146G>A",
"hgvs_p": null,
"transcript": "NM_001331011.2",
"protein_id": "NP_001317940.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1144,
"cds_start": -4,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.*263+615G>A",
"hgvs_p": null,
"transcript": "ENST00000381285.8",
"protein_id": "ENSP00000370685.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 877,
"cds_start": -4,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "n.2714-6829G>A",
"hgvs_p": null,
"transcript": "ENST00000379960.10",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "n.218+615G>A",
"hgvs_p": null,
"transcript": "ENST00000437126.5",
"protein_id": "ENSP00000413290.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 41,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3229+615G>A",
"hgvs_p": null,
"transcript": "XM_017028428.2",
"protein_id": "XP_016883917.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1721,
"cds_start": -4,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 40,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3118+615G>A",
"hgvs_p": null,
"transcript": "XM_017028429.3",
"protein_id": "XP_016883918.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1684,
"cds_start": -4,
"cds_end": null,
"cds_length": 5055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 39,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3103+615G>A",
"hgvs_p": null,
"transcript": "XM_017028430.3",
"protein_id": "XP_016883919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1679,
"cds_start": -4,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 39,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3103+615G>A",
"hgvs_p": null,
"transcript": "XM_047440943.1",
"protein_id": "XP_047296899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1679,
"cds_start": -4,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 27527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 39,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3229+615G>A",
"hgvs_p": null,
"transcript": "XM_017028431.3",
"protein_id": "XP_016883920.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1665,
"cds_start": -4,
"cds_end": null,
"cds_length": 4998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3214+615G>A",
"hgvs_p": null,
"transcript": "XM_017028432.3",
"protein_id": "XP_016883921.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1660,
"cds_start": -4,
"cds_end": null,
"cds_length": 4983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3017-2146G>A",
"hgvs_p": null,
"transcript": "XM_017028433.3",
"protein_id": "XP_016883922.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1650,
"cds_start": -4,
"cds_end": null,
"cds_length": 4953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 37,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3002-2146G>A",
"hgvs_p": null,
"transcript": "XM_017028434.3",
"protein_id": "XP_016883923.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1645,
"cds_start": -4,
"cds_end": null,
"cds_length": 4938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.2906-2146G>A",
"hgvs_p": null,
"transcript": "XM_017028435.3",
"protein_id": "XP_016883924.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1613,
"cds_start": -4,
"cds_end": null,
"cds_length": 4842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 37,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.2891-2146G>A",
"hgvs_p": null,
"transcript": "XM_017028436.3",
"protein_id": "XP_016883925.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1608,
"cds_start": -4,
"cds_end": null,
"cds_length": 4827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3214+615G>A",
"hgvs_p": null,
"transcript": "XM_047440944.1",
"protein_id": "XP_047296900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1215,
"cds_start": -4,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3214+615G>A",
"hgvs_p": null,
"transcript": "XM_047440945.1",
"protein_id": "XP_047296901.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1215,
"cds_start": -4,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 30,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3118+615G>A",
"hgvs_p": null,
"transcript": "XM_017028438.3",
"protein_id": "XP_016883927.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1183,
"cds_start": -4,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3103+615G>A",
"hgvs_p": null,
"transcript": "XM_047440946.1",
"protein_id": "XP_047296902.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1178,
"cds_start": -4,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3002-2146G>A",
"hgvs_p": null,
"transcript": "XM_047440947.1",
"protein_id": "XP_047296903.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1144,
"cds_start": -4,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.2906-2146G>A",
"hgvs_p": null,
"transcript": "XM_017028440.3",
"protein_id": "XP_016883929.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1112,
"cds_start": -4,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.2891-2146G>A",
"hgvs_p": null,
"transcript": "XM_011529692.3",
"protein_id": "XP_011527994.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1107,
"cds_start": -4,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3062+615G>A",
"hgvs_p": null,
"transcript": "XM_047440949.1",
"protein_id": "XP_047296905.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1020,
"cds_start": -4,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.3047+615G>A",
"hgvs_p": null,
"transcript": "XM_047440950.1",
"protein_id": "XP_047296906.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1015,
"cds_start": -4,
"cds_end": null,
"cds_length": 3048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"dbsnp": "rs11702799",
"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": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.546,
"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": -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": "ENST00000381318.8",
"gene_symbol": "ITSN1",
"hgnc_id": 6183,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3229+615G>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000429238.2",
"gene_symbol": "ENSG00000249209",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.441+79863C>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
}