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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: 3-69004436-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=69004436&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 69004436,
"ref": "T",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000383701.8",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "NM_001278689.2",
"protein_id": "NP_001265618.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 527,
"cds_start": 562,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 4443,
"mane_select": "ENST00000383701.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "ENST00000383701.8",
"protein_id": "ENSP00000373206.3",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 527,
"cds_start": 562,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 4443,
"mane_select": "NM_001278689.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "ENST00000540764.5",
"protein_id": "ENSP00000443780.2",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 527,
"cds_start": 562,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 1584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "ENST00000295571.9",
"protein_id": "ENSP00000295571.5",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 443,
"cds_start": 562,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "NM_173654.3",
"protein_id": "NP_775925.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 443,
"cds_start": 562,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 4191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "ENST00000540955.5",
"protein_id": "ENSP00000444264.2",
"transcript_support_level": 2,
"aa_start": 188,
"aa_end": null,
"aa_length": 443,
"cds_start": 562,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 1332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "XM_011533599.2",
"protein_id": "XP_011531901.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 545,
"cds_start": 562,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 4644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "XM_011533600.2",
"protein_id": "XP_011531902.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 545,
"cds_start": 562,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "XM_011533602.2",
"protein_id": "XP_011531904.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 545,
"cds_start": 562,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 4409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "XM_047448000.1",
"protein_id": "XP_047303956.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 545,
"cds_start": 562,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 4647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "XM_047448001.1",
"protein_id": "XP_047303957.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 545,
"cds_start": 562,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 4768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "XM_011533603.2",
"protein_id": "XP_011531905.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 544,
"cds_start": 562,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 4641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "XM_017006204.2",
"protein_id": "XP_016861693.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 544,
"cds_start": 562,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 4494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "XM_047448002.1",
"protein_id": "XP_047303958.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 544,
"cds_start": 562,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 4795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "XM_047448003.1",
"protein_id": "XP_047303959.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 544,
"cds_start": 562,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 4406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "XM_047448004.1",
"protein_id": "XP_047303960.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 544,
"cds_start": 562,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 4552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "XM_005264743.3",
"protein_id": "XP_005264800.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 527,
"cds_start": 562,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1175,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "XM_017006205.2",
"protein_id": "XP_016861694.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 527,
"cds_start": 562,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 4355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "XM_017006206.2",
"protein_id": "XP_016861695.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 527,
"cds_start": 562,
"cds_end": null,
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"cdna_start": 1131,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "XM_047448005.1",
"protein_id": "XP_047303961.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 527,
"cds_start": 562,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 4609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "XM_047448006.1",
"protein_id": "XP_047303962.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 527,
"cds_start": 562,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 4753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*",
"transcript": "XM_017006208.2",
"protein_id": "XP_016861697.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 292,
"cds_start": 562,
"cds_end": null,
"cds_length": 879,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 1414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "n.562A>T",
"hgvs_p": null,
"transcript": "ENST00000403140.6",
"protein_id": "ENSP00000384124.2",
"transcript_support_level": 2,
"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": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "n.1028A>T",
"hgvs_p": null,
"transcript": "NR_103826.2",
"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": 4232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"hgvs_c": "c.-67A>T",
"hgvs_p": null,
"transcript": "XM_017006207.2",
"protein_id": "XP_016861696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": -4,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EOGT",
"gene_hgnc_id": 28526,
"dbsnp": "rs116711473",
"frequency_reference_population": 0.0016863428,
"hom_count_reference_population": 40,
"allele_count_reference_population": 2722,
"gnomad_exomes_af": 0.000991913,
"gnomad_genomes_af": 0.00835073,
"gnomad_exomes_ac": 1450,
"gnomad_genomes_ac": 1272,
"gnomad_exomes_homalt": 21,
"gnomad_genomes_homalt": 19,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10999999940395355,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.862,
"phylop100way_prediction": "Benign",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PVS1,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 9,
"pathogenic_score": 8,
"criteria": [
"PVS1",
"BP6",
"BS1",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000383701.8",
"gene_symbol": "EOGT",
"hgnc_id": 28526,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.562A>T",
"hgvs_p": "p.Lys188*"
}
],
"clinvar_disease": "Adams-Oliver syndrome 4,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:2",
"phenotype_combined": "not provided|Adams-Oliver syndrome 4",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}