← 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: 11-22227554-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=22227554&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 22227554,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000324559.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.616A>G",
"hgvs_p": "p.Thr206Ala",
"transcript": "NM_213599.3",
"protein_id": "NP_998764.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 913,
"cds_start": 616,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 6742,
"mane_select": "ENST00000324559.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.616A>G",
"hgvs_p": "p.Thr206Ala",
"transcript": "ENST00000324559.9",
"protein_id": "ENSP00000315371.9",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 913,
"cds_start": 616,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 6742,
"mane_select": "NM_213599.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.613A>G",
"hgvs_p": "p.Thr205Ala",
"transcript": "NM_001142649.2",
"protein_id": "NP_001136121.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 912,
"cds_start": 613,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.574A>G",
"hgvs_p": "p.Thr192Ala",
"transcript": "NM_001410963.1",
"protein_id": "NP_001397892.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 899,
"cds_start": 574,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 6700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.574A>G",
"hgvs_p": "p.Thr192Ala",
"transcript": "ENST00000682341.1",
"protein_id": "ENSP00000508251.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 899,
"cds_start": 574,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.571A>G",
"hgvs_p": "p.Thr191Ala",
"transcript": "NM_001410964.1",
"protein_id": "NP_001397893.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 898,
"cds_start": 571,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 6697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.571A>G",
"hgvs_p": "p.Thr191Ala",
"transcript": "ENST00000684663.1",
"protein_id": "ENSP00000508009.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 898,
"cds_start": 571,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 6947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.538A>G",
"hgvs_p": "p.Thr180Ala",
"transcript": "NM_001441294.1",
"protein_id": "NP_001428223.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 887,
"cds_start": 538,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 6569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Thr179Ala",
"transcript": "NM_001441295.1",
"protein_id": "NP_001428224.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 886,
"cds_start": 535,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 6566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Thr175Ala",
"transcript": "NM_001441296.1",
"protein_id": "NP_001428225.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 882,
"cds_start": 523,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 6649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.496A>G",
"hgvs_p": "p.Thr166Ala",
"transcript": "NM_001441297.1",
"protein_id": "NP_001428226.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 873,
"cds_start": 496,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 6527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.574A>G",
"hgvs_p": "p.Thr192Ala",
"transcript": "NM_001441298.1",
"protein_id": "NP_001428227.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 861,
"cds_start": 574,
"cds_end": null,
"cds_length": 2586,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 6586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.571A>G",
"hgvs_p": "p.Thr191Ala",
"transcript": "NM_001441299.1",
"protein_id": "NP_001428228.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 860,
"cds_start": 571,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 6583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.574A>G",
"hgvs_p": "p.Thr192Ala",
"transcript": "ENST00000683197.1",
"protein_id": "ENSP00000507641.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 795,
"cds_start": 574,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 6437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.574A>G",
"hgvs_p": "p.Thr192Ala",
"transcript": "NM_001441300.1",
"protein_id": "NP_001428229.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 768,
"cds_start": 574,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 6307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.571A>G",
"hgvs_p": "p.Thr191Ala",
"transcript": "NM_001441301.1",
"protein_id": "NP_001428230.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 767,
"cds_start": 571,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 6304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.166A>G",
"hgvs_p": "p.Thr56Ala",
"transcript": "ENST00000682266.1",
"protein_id": "ENSP00000507766.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 763,
"cds_start": 166,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 865,
"cdna_end": null,
"cdna_length": 6570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.166A>G",
"hgvs_p": "p.Thr56Ala",
"transcript": "ENST00000683411.1",
"protein_id": "ENSP00000508397.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 763,
"cds_start": 166,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 6713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.166A>G",
"hgvs_p": "p.Thr56Ala",
"transcript": "ENST00000683437.1",
"protein_id": "ENSP00000508408.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 763,
"cds_start": 166,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 838,
"cdna_end": null,
"cdna_length": 6543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.523A>G",
"hgvs_p": "p.Thr175Ala",
"transcript": "NM_001441302.1",
"protein_id": "NP_001428231.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 751,
"cds_start": 523,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 6256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.538A>G",
"hgvs_p": "p.Thr180Ala",
"transcript": "XM_005252822.5",
"protein_id": "XP_005252879.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 887,
"cds_start": 538,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 6548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.535A>G",
"hgvs_p": "p.Thr179Ala",
"transcript": "XM_047426522.1",
"protein_id": "XP_047282478.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 886,
"cds_start": 535,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 6545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "n.1181A>G",
"hgvs_p": null,
"transcript": "ENST00000648804.1",
"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": 6656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "n.*548A>G",
"hgvs_p": null,
"transcript": "ENST00000682530.1",
"protein_id": "ENSP00000506805.1",
"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": 2097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "n.995A>G",
"hgvs_p": null,
"transcript": "ENST00000682684.1",
"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": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "n.1610A>G",
"hgvs_p": null,
"transcript": "ENST00000683613.1",
"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": 7315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "n.816A>G",
"hgvs_p": null,
"transcript": "ENST00000683834.1",
"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": 1942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "n.*548A>G",
"hgvs_p": null,
"transcript": "ENST00000682530.1",
"protein_id": "ENSP00000506805.1",
"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": 2097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"dbsnp": "rs78266558",
"frequency_reference_population": 0.0015897492,
"hom_count_reference_population": 43,
"allele_count_reference_population": 2565,
"gnomad_exomes_af": 0.000850632,
"gnomad_genomes_af": 0.00868617,
"gnomad_exomes_ac": 1243,
"gnomad_genomes_ac": 1322,
"gnomad_exomes_homalt": 19,
"gnomad_genomes_homalt": 24,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007256597280502319,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.0694,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.965,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BA1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000324559.9",
"gene_symbol": "ANO5",
"hgnc_id": 27337,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.616A>G",
"hgvs_p": "p.Thr206Ala"
}
],
"clinvar_disease": "ANO5-Related Muscle Diseases,ANO5-related disorder,Autosomal recessive limb-girdle muscular dystrophy,Autosomal recessive limb-girdle muscular dystrophy type 2L,Gnathodiaphyseal dysplasia,Miyoshi muscular dystrophy 3,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LB:1 B:12",
"phenotype_combined": "not specified|Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia|ANO5-Related Muscle Diseases|Autosomal recessive limb-girdle muscular dystrophy type 2L|Miyoshi muscular dystrophy 3|Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L;Miyoshi muscular dystrophy 3|not provided|ANO5-related disorder|Autosomal recessive limb-girdle muscular dystrophy",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}