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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: 10-73383327-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73383327&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 73383327,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004034.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "NM_001156.5",
"protein_id": "NP_001147.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 466,
"cds_start": 766,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372921.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001156.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "ENST00000372921.10",
"protein_id": "ENSP00000362012.4",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 466,
"cds_start": 766,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001156.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372921.10"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Cys",
"transcript": "ENST00000372919.8",
"protein_id": "ENSP00000362010.4",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 488,
"cds_start": 832,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372919.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.856C>T",
"hgvs_p": "p.Arg286Cys",
"transcript": "ENST00000961271.1",
"protein_id": "ENSP00000631330.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 496,
"cds_start": 856,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961271.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Cys",
"transcript": "NM_004034.4",
"protein_id": "NP_004025.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 488,
"cds_start": 832,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004034.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Cys",
"transcript": "ENST00000892953.1",
"protein_id": "ENSP00000563012.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 488,
"cds_start": 832,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892953.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Cys",
"transcript": "ENST00000892955.1",
"protein_id": "ENSP00000563014.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 488,
"cds_start": 832,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892955.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Cys",
"transcript": "ENST00000892959.1",
"protein_id": "ENSP00000563018.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 488,
"cds_start": 832,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892959.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Cys",
"transcript": "ENST00000892964.1",
"protein_id": "ENSP00000563023.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 488,
"cds_start": 832,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892964.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Cys",
"transcript": "ENST00000961266.1",
"protein_id": "ENSP00000631325.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 488,
"cds_start": 832,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961266.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Cys",
"transcript": "ENST00000961269.1",
"protein_id": "ENSP00000631328.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 488,
"cds_start": 832,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961269.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Cys",
"transcript": "ENST00000961263.1",
"protein_id": "ENSP00000631322.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 486,
"cds_start": 826,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961263.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Arg276Cys",
"transcript": "ENST00000961274.1",
"protein_id": "ENSP00000631333.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 486,
"cds_start": 826,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961274.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.823C>T",
"hgvs_p": "p.Arg275Cys",
"transcript": "ENST00000892960.1",
"protein_id": "ENSP00000563019.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 485,
"cds_start": 823,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892960.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.823C>T",
"hgvs_p": "p.Arg275Cys",
"transcript": "ENST00000892963.1",
"protein_id": "ENSP00000563022.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 485,
"cds_start": 823,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892963.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.823C>T",
"hgvs_p": "p.Arg275Cys",
"transcript": "ENST00000961272.1",
"protein_id": "ENSP00000631331.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 485,
"cds_start": 823,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961272.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Cys",
"transcript": "ENST00000892968.1",
"protein_id": "ENSP00000563027.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 474,
"cds_start": 832,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892968.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.823C>T",
"hgvs_p": "p.Arg275Cys",
"transcript": "ENST00000961275.1",
"protein_id": "ENSP00000631334.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 471,
"cds_start": 823,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961275.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "ENST00000892950.1",
"protein_id": "ENSP00000563009.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 466,
"cds_start": 766,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892950.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "ENST00000892952.1",
"protein_id": "ENSP00000563011.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 466,
"cds_start": 766,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892952.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "ENST00000892957.1",
"protein_id": "ENSP00000563016.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 466,
"cds_start": 766,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892957.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA7",
"gene_hgnc_id": 545,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.Arg256Cys",
"transcript": "ENST00000892965.1",
"protein_id": "ENSP00000563024.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 466,
"cds_start": 766,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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{
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},
{
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],
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"feature": "XM_017016162.3"
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{
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],
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},
{
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],
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"biotype": "pseudogene",
"feature": "ENST00000427492.2"
},
{
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"strand": false,
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "ANXA7",
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"biotype": "pseudogene",
"feature": "ENST00000492380.1"
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],
"gene_symbol": "ANXA7",
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"dbsnp": "rs775887772",
"frequency_reference_population": 0.0000020537254,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205373,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29072895646095276,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.063,
"revel_prediction": "Benign",
"alphamissense_score": 0.1637,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.954,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004034.4",
"gene_symbol": "ANXA7",
"hgnc_id": 545,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Arg278Cys"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000427492.2",
"gene_symbol": "ENSG00000233144",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.303G>A",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}