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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: 11-22274589-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=22274589&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 22274589,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000324559.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2256G>A",
"hgvs_p": "p.Thr752Thr",
"transcript": "NM_213599.3",
"protein_id": "NP_998764.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 913,
"cds_start": 2256,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2664,
"cdna_end": null,
"cdna_length": 6742,
"mane_select": "ENST00000324559.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2256G>A",
"hgvs_p": "p.Thr752Thr",
"transcript": "ENST00000324559.9",
"protein_id": "ENSP00000315371.9",
"transcript_support_level": 1,
"aa_start": 752,
"aa_end": null,
"aa_length": 913,
"cds_start": 2256,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2664,
"cdna_end": null,
"cdna_length": 6742,
"mane_select": "NM_213599.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2253G>A",
"hgvs_p": "p.Thr751Thr",
"transcript": "NM_001142649.2",
"protein_id": "NP_001136121.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 912,
"cds_start": 2253,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 2661,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2214G>A",
"hgvs_p": "p.Thr738Thr",
"transcript": "NM_001410963.1",
"protein_id": "NP_001397892.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 899,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2622,
"cdna_end": null,
"cdna_length": 6700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2214G>A",
"hgvs_p": "p.Thr738Thr",
"transcript": "ENST00000682341.1",
"protein_id": "ENSP00000508251.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 899,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2674,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2211G>A",
"hgvs_p": "p.Thr737Thr",
"transcript": "NM_001410964.1",
"protein_id": "NP_001397893.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 898,
"cds_start": 2211,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 2619,
"cdna_end": null,
"cdna_length": 6697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2211G>A",
"hgvs_p": "p.Thr737Thr",
"transcript": "ENST00000684663.1",
"protein_id": "ENSP00000508009.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 898,
"cds_start": 2211,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 6947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2178G>A",
"hgvs_p": "p.Thr726Thr",
"transcript": "NM_001441294.1",
"protein_id": "NP_001428223.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 887,
"cds_start": 2178,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2491,
"cdna_end": null,
"cdna_length": 6569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2175G>A",
"hgvs_p": "p.Thr725Thr",
"transcript": "NM_001441295.1",
"protein_id": "NP_001428224.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 886,
"cds_start": 2175,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2488,
"cdna_end": null,
"cdna_length": 6566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2163G>A",
"hgvs_p": "p.Thr721Thr",
"transcript": "NM_001441296.1",
"protein_id": "NP_001428225.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 882,
"cds_start": 2163,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 2571,
"cdna_end": null,
"cdna_length": 6649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2136G>A",
"hgvs_p": "p.Thr712Thr",
"transcript": "NM_001441297.1",
"protein_id": "NP_001428226.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 873,
"cds_start": 2136,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2449,
"cdna_end": null,
"cdna_length": 6527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2100G>A",
"hgvs_p": "p.Thr700Thr",
"transcript": "NM_001441298.1",
"protein_id": "NP_001428227.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 861,
"cds_start": 2100,
"cds_end": null,
"cds_length": 2586,
"cdna_start": 2508,
"cdna_end": null,
"cdna_length": 6586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2097G>A",
"hgvs_p": "p.Thr699Thr",
"transcript": "NM_001441299.1",
"protein_id": "NP_001428228.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 860,
"cds_start": 2097,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2505,
"cdna_end": null,
"cdna_length": 6583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2214G>A",
"hgvs_p": "p.Thr738Thr",
"transcript": "ENST00000683197.1",
"protein_id": "ENSP00000507641.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 795,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 2532,
"cdna_end": null,
"cdna_length": 6437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.1821G>A",
"hgvs_p": "p.Thr607Thr",
"transcript": "NM_001441300.1",
"protein_id": "NP_001428229.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 768,
"cds_start": 1821,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2229,
"cdna_end": null,
"cdna_length": 6307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Thr606Thr",
"transcript": "NM_001441301.1",
"protein_id": "NP_001428230.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 767,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 2226,
"cdna_end": null,
"cdna_length": 6304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.1806G>A",
"hgvs_p": "p.Thr602Thr",
"transcript": "ENST00000682266.1",
"protein_id": "ENSP00000507766.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 763,
"cds_start": 1806,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2505,
"cdna_end": null,
"cdna_length": 6570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.1806G>A",
"hgvs_p": "p.Thr602Thr",
"transcript": "ENST00000683411.1",
"protein_id": "ENSP00000508397.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 763,
"cds_start": 1806,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2648,
"cdna_end": null,
"cdna_length": 6713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.1806G>A",
"hgvs_p": "p.Thr602Thr",
"transcript": "ENST00000683437.1",
"protein_id": "ENSP00000508408.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 763,
"cds_start": 1806,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2478,
"cdna_end": null,
"cdna_length": 6543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.1770G>A",
"hgvs_p": "p.Thr590Thr",
"transcript": "NM_001441302.1",
"protein_id": "NP_001428231.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 751,
"cds_start": 1770,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2178,
"cdna_end": null,
"cdna_length": 6256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2178G>A",
"hgvs_p": "p.Thr726Thr",
"transcript": "XM_005252822.5",
"protein_id": "XP_005252879.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 887,
"cds_start": 2178,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 6548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "c.2175G>A",
"hgvs_p": "p.Thr725Thr",
"transcript": "XM_047426522.1",
"protein_id": "XP_047282478.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 886,
"cds_start": 2175,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2467,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "n.273G>A",
"hgvs_p": null,
"transcript": "ENST00000532043.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 585,
"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": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "n.2591G>A",
"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": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"hgvs_c": "n.3250G>A",
"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
}
],
"gene_symbol": "ANO5",
"gene_hgnc_id": 27337,
"dbsnp": "rs144048656",
"frequency_reference_population": 0.0010075485,
"hom_count_reference_population": 19,
"allele_count_reference_population": 1610,
"gnomad_exomes_af": 0.00104854,
"gnomad_genomes_af": 0.000612468,
"gnomad_exomes_ac": 1518,
"gnomad_genomes_ac": 92,
"gnomad_exomes_homalt": 19,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5799999833106995,
"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": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.264,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000324559.9",
"gene_symbol": "ANO5",
"hgnc_id": 27337,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2256G>A",
"hgvs_p": "p.Thr752Thr"
}
],
"clinvar_disease": "ANO5-Related Muscle Diseases,Autosomal recessive limb-girdle muscular dystrophy type 2L,Gnathodiaphyseal dysplasia,Miyoshi muscular dystrophy 3,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:6",
"phenotype_combined": "not specified|Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L|not provided|Autosomal recessive limb-girdle muscular dystrophy type 2L|ANO5-Related Muscle Diseases|Gnathodiaphyseal dysplasia|Miyoshi muscular dystrophy 3",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}