← 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: 11-22221100-CA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=22221100&ref=CA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "ANO5",
"hgnc_id": 27337,
"hgvs_c": "c.191delA",
"hgvs_p": "p.Asn64fs",
"inheritance_mode": "AD,AR",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_213599.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_score": 10,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 913,
"aa_ref": "N",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6742,
"cdna_start": 599,
"cds_end": null,
"cds_length": 2742,
"cds_start": 191,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_213599.3",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.191delA",
"hgvs_p": "p.Asn64fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324559.9",
"protein_coding": true,
"protein_id": "NP_998764.1",
"strand": true,
"transcript": "NM_213599.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 913,
"aa_ref": "N",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6742,
"cdna_start": 599,
"cds_end": null,
"cds_length": 2742,
"cds_start": 191,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000324559.9",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.191delA",
"hgvs_p": "p.Asn64fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_213599.3",
"protein_coding": true,
"protein_id": "ENSP00000315371.9",
"strand": true,
"transcript": "ENST00000324559.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 912,
"aa_ref": "N",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6739,
"cdna_start": 596,
"cds_end": null,
"cds_length": 2739,
"cds_start": 188,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001142649.2",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.188delA",
"hgvs_p": "p.Asn63fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136121.1",
"strand": true,
"transcript": "NM_001142649.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 899,
"aa_ref": "N",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6700,
"cdna_start": 557,
"cds_end": null,
"cds_length": 2700,
"cds_start": 149,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001410963.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.149delA",
"hgvs_p": "p.Asn50fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397892.1",
"strand": true,
"transcript": "NM_001410963.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 899,
"aa_ref": "N",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6739,
"cdna_start": 609,
"cds_end": null,
"cds_length": 2700,
"cds_start": 149,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000682341.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.149delA",
"hgvs_p": "p.Asn50fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508251.1",
"strand": true,
"transcript": "ENST00000682341.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 898,
"aa_ref": "N",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6697,
"cdna_start": 554,
"cds_end": null,
"cds_length": 2697,
"cds_start": 146,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001410964.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asn49fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397893.1",
"strand": true,
"transcript": "NM_001410964.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 898,
"aa_ref": "N",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6947,
"cdna_start": 594,
"cds_end": null,
"cds_length": 2697,
"cds_start": 146,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000684663.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asn49fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508009.1",
"strand": true,
"transcript": "ENST00000684663.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 887,
"aa_ref": "N",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6569,
"cdna_start": 426,
"cds_end": null,
"cds_length": 2664,
"cds_start": 113,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001441294.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.113delA",
"hgvs_p": "p.Asn38fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428223.1",
"strand": true,
"transcript": "NM_001441294.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 886,
"aa_ref": "N",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6566,
"cdna_start": 423,
"cds_end": null,
"cds_length": 2661,
"cds_start": 110,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001441295.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.110delA",
"hgvs_p": "p.Asn37fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428224.1",
"strand": true,
"transcript": "NM_001441295.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 882,
"aa_ref": "N",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6649,
"cdna_start": 506,
"cds_end": null,
"cds_length": 2649,
"cds_start": 98,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001441296.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.98delA",
"hgvs_p": "p.Asn33fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428225.1",
"strand": true,
"transcript": "NM_001441296.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 875,
"aa_ref": "N",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6642,
"cdna_start": 614,
"cds_end": null,
"cds_length": 2628,
"cds_start": 191,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000950081.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.191delA",
"hgvs_p": "p.Asn64fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620140.1",
"strand": true,
"transcript": "ENST00000950081.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 873,
"aa_ref": "N",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6527,
"cdna_start": 384,
"cds_end": null,
"cds_length": 2622,
"cds_start": 71,
"consequences": [
"frameshift_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001441297.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.71delA",
"hgvs_p": "p.Asn24fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428226.1",
"strand": true,
"transcript": "NM_001441297.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 861,
"aa_ref": "N",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6586,
"cdna_start": 557,
"cds_end": null,
"cds_length": 2586,
"cds_start": 149,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001441298.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.149delA",
"hgvs_p": "p.Asn50fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428227.1",
"strand": true,
"transcript": "NM_001441298.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 861,
"aa_ref": "N",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4172,
"cdna_start": 306,
"cds_end": null,
"cds_length": 2586,
"cds_start": 149,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000878905.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.149delA",
"hgvs_p": "p.Asn50fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548964.1",
"strand": true,
"transcript": "ENST00000878905.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 860,
"aa_ref": "N",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6583,
"cdna_start": 554,
"cds_end": null,
"cds_length": 2583,
"cds_start": 146,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001441299.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asn49fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428228.1",
"strand": true,
"transcript": "NM_001441299.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 860,
"aa_ref": "N",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6011,
"cdna_start": 607,
"cds_end": null,
"cds_length": 2583,
"cds_start": 146,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000878904.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asn49fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548963.1",
"strand": true,
"transcript": "ENST00000878904.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 795,
"aa_ref": "N",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6437,
"cdna_start": 467,
"cds_end": null,
"cds_length": 2388,
"cds_start": 149,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000683197.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.149delA",
"hgvs_p": "p.Asn50fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507641.1",
"strand": true,
"transcript": "ENST00000683197.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 794,
"aa_ref": "N",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5764,
"cdna_start": 596,
"cds_end": null,
"cds_length": 2385,
"cds_start": 188,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000950082.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.188delA",
"hgvs_p": "p.Asn63fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620141.1",
"strand": true,
"transcript": "ENST00000950082.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 768,
"aa_ref": "N",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6307,
"cdna_start": 557,
"cds_end": null,
"cds_length": 2307,
"cds_start": 149,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001441300.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.149delA",
"hgvs_p": "p.Asn50fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428229.1",
"strand": true,
"transcript": "NM_001441300.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 768,
"aa_ref": "N",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5677,
"cdna_start": 557,
"cds_end": null,
"cds_length": 2307,
"cds_start": 149,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000939029.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.149delA",
"hgvs_p": "p.Asn50fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609088.1",
"strand": true,
"transcript": "ENST00000939029.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 767,
"aa_ref": "N",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6304,
"cdna_start": 554,
"cds_end": null,
"cds_length": 2304,
"cds_start": 146,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001441301.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asn49fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428230.1",
"strand": true,
"transcript": "NM_001441301.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 751,
"aa_ref": "N",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6256,
"cdna_start": 506,
"cds_end": null,
"cds_length": 2256,
"cds_start": 98,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001441302.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.98delA",
"hgvs_p": "p.Asn33fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428231.1",
"strand": true,
"transcript": "NM_001441302.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 887,
"aa_ref": "N",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6548,
"cdna_start": 405,
"cds_end": null,
"cds_length": 2664,
"cds_start": 113,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005252822.5",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.113delA",
"hgvs_p": "p.Asn38fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005252879.1",
"strand": true,
"transcript": "XM_005252822.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 886,
"aa_ref": "N",
"aa_start": 37,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6545,
"cdna_start": 402,
"cds_end": null,
"cds_length": 2661,
"cds_start": 110,
"consequences": [
"frameshift_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047426522.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.110delA",
"hgvs_p": "p.Asn37fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282478.1",
"strand": true,
"transcript": "XM_047426522.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 763,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6570,
"cdna_start": null,
"cds_end": null,
"cds_length": 2292,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000682266.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.-260delA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507766.1",
"strand": true,
"transcript": "ENST00000682266.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 763,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6713,
"cdna_start": null,
"cds_end": null,
"cds_length": 2292,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000683411.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.-260delA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508397.1",
"strand": true,
"transcript": "ENST00000683411.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 763,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6543,
"cdna_start": null,
"cds_end": null,
"cds_length": 2292,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000683437.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "c.-260delA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508408.1",
"strand": true,
"transcript": "ENST00000683437.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6656,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000648804.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "n.756delA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000648804.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2097,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000682530.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "n.*123delA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506805.1",
"strand": true,
"transcript": "ENST00000682530.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1532,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000682684.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "n.570delA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000682684.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 7315,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000683613.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "n.1185delA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000683613.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1942,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000683834.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "n.391delA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000683834.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 749,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000683897.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "n.435delA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000683897.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4555,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000684365.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "n.560delA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000684365.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2097,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000682530.1",
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"hgvs_c": "n.*123delA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506805.1",
"strand": true,
"transcript": "ENST00000682530.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs137854521",
"effect": "frameshift_variant",
"frequency_reference_population": 0.0000020589011,
"gene_hgnc_id": 27337,
"gene_symbol": "ANO5",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.0000020589,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.656,
"pos": 22221100,
"ref": "CA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_213599.3"
}
]
}