← 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: 3-124856796-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=124856796&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 124856796,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_002213.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "NM_002213.5",
"protein_id": "NP_002204.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 799,
"cds_start": null,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296181.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002213.5"
},
{
"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": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000296181.9",
"protein_id": "ENSP00000296181.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 799,
"cds_start": null,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002213.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296181.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000905025.1",
"protein_id": "ENSP00000575084.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 873,
"cds_start": null,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905025.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000965613.1",
"protein_id": "ENSP00000635672.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": null,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965613.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000965616.1",
"protein_id": "ENSP00000635675.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 814,
"cds_start": null,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965616.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000935896.1",
"protein_id": "ENSP00000605955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 798,
"cds_start": null,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935896.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000935903.1",
"protein_id": "ENSP00000605962.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 797,
"cds_start": null,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935903.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000965615.1",
"protein_id": "ENSP00000635674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 797,
"cds_start": null,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965615.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000935905.1",
"protein_id": "ENSP00000605964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": null,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935905.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000935898.1",
"protein_id": "ENSP00000605957.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 767,
"cds_start": null,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935898.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000965612.1",
"protein_id": "ENSP00000635671.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 759,
"cds_start": null,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965612.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000935909.1",
"protein_id": "ENSP00000605968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 745,
"cds_start": null,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935909.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.443+436G>T",
"hgvs_p": null,
"transcript": "ENST00000935906.1",
"protein_id": "ENSP00000605965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 743,
"cds_start": null,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935906.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000905026.1",
"protein_id": "ENSP00000575085.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": null,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905026.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000935895.1",
"protein_id": "ENSP00000605954.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 724,
"cds_start": null,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935895.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000965617.1",
"protein_id": "ENSP00000635676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 724,
"cds_start": null,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965617.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000935908.1",
"protein_id": "ENSP00000605967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 722,
"cds_start": null,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935908.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000935899.1",
"protein_id": "ENSP00000605958.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935899.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000965614.1",
"protein_id": "ENSP00000635673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 713,
"cds_start": null,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965614.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.71-8238G>T",
"hgvs_p": null,
"transcript": "ENST00000935902.1",
"protein_id": "ENSP00000605961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 702,
"cds_start": null,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935902.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000935900.1",
"protein_id": "ENSP00000605959.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 692,
"cds_start": null,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935900.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.37+2446G>T",
"hgvs_p": null,
"transcript": "NM_001354764.2",
"protein_id": "NP_001341693.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 691,
"cds_start": null,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354764.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.37+2446G>T",
"hgvs_p": null,
"transcript": "NM_001354765.1",
"protein_id": "NP_001341694.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 691,
"cds_start": null,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354765.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000935901.1",
"protein_id": "ENSP00000605960.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 691,
"cds_start": null,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935901.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.37+2446G>T",
"hgvs_p": null,
"transcript": "NM_001354766.2",
"protein_id": "NP_001341695.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": null,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354766.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000935897.1",
"protein_id": "ENSP00000605956.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": null,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935897.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000935904.1",
"protein_id": "ENSP00000605963.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 610,
"cds_start": null,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935904.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.156+16650G>T",
"hgvs_p": null,
"transcript": "ENST00000935910.1",
"protein_id": "ENSP00000605969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 591,
"cds_start": null,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935910.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.156+16650G>T",
"hgvs_p": null,
"transcript": "ENST00000935907.1",
"protein_id": "ENSP00000605966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 475,
"cds_start": null,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935907.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.37+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000608657.5",
"protein_id": "ENSP00000477230.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 138,
"cds_start": null,
"cds_end": null,
"cds_length": 418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000608657.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.37+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000483168.5",
"protein_id": "ENSP00000419198.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 78,
"cds_start": null,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000483168.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.37+2446G>T",
"hgvs_p": null,
"transcript": "ENST00000608107.1",
"protein_id": "ENSP00000476655.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 58,
"cds_start": null,
"cds_end": null,
"cds_length": 177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000608107.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "XM_005247436.4",
"protein_id": "XP_005247493.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": null,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247436.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.361+2446G>T",
"hgvs_p": null,
"transcript": "XM_006713630.4",
"protein_id": "XP_006713693.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 754,
"cds_start": null,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713630.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.37+2446G>T",
"hgvs_p": null,
"transcript": "XM_017006353.2",
"protein_id": "XP_016861842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 691,
"cds_start": null,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006353.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.37+2446G>T",
"hgvs_p": null,
"transcript": "XM_047448087.1",
"protein_id": "XP_047304043.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 691,
"cds_start": null,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448087.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.37+2446G>T",
"hgvs_p": null,
"transcript": "XM_047448088.1",
"protein_id": "XP_047304044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 661,
"cds_start": null,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448088.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "c.37+2446G>T",
"hgvs_p": null,
"transcript": "XM_047448089.1",
"protein_id": "XP_047304045.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 646,
"cds_start": null,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448089.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"hgvs_c": "n.119+436G>T",
"hgvs_p": null,
"transcript": "ENST00000465464.5",
"protein_id": "ENSP00000418079.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000465464.5"
}
],
"gene_symbol": "ITGB5",
"gene_hgnc_id": 6160,
"dbsnp": "rs1499961",
"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": -0.8700000047683716,
"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": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.043,
"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": "NM_002213.5",
"gene_symbol": "ITGB5",
"hgnc_id": 6160,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.361+2446G>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
}