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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: 15-57604294-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=57604294&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 57604294,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001285900.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYZAP",
"gene_hgnc_id": 43444,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Asn",
"transcript": "NM_001018100.5",
"protein_id": "NP_001018110.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 466,
"cds_start": 101,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000267853.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018100.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYZAP",
"gene_hgnc_id": 43444,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Asn",
"transcript": "ENST00000267853.10",
"protein_id": "ENSP00000267853.5",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 466,
"cds_start": 101,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001018100.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267853.10"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCOM1",
"gene_hgnc_id": 26424,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Asn",
"transcript": "ENST00000587652.5",
"protein_id": "ENSP00000465231.1",
"transcript_support_level": 2,
"aa_start": 34,
"aa_end": null,
"aa_length": 765,
"cds_start": 101,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587652.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYZAP",
"gene_hgnc_id": 43444,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Asn",
"transcript": "ENST00000380565.8",
"protein_id": "ENSP00000369939.4",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 438,
"cds_start": 101,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380565.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCOM1",
"gene_hgnc_id": 26424,
"hgvs_c": "n.101C>A",
"hgvs_p": null,
"transcript": "ENST00000468886.5",
"protein_id": "ENSP00000433702.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000468886.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCOM1",
"gene_hgnc_id": 26424,
"hgvs_c": "n.101C>A",
"hgvs_p": null,
"transcript": "ENST00000471563.5",
"protein_id": "ENSP00000432563.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000471563.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCOM1",
"gene_hgnc_id": 26424,
"hgvs_c": "n.101C>A",
"hgvs_p": null,
"transcript": "ENST00000488175.5",
"protein_id": "ENSP00000432066.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000488175.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCOM1",
"gene_hgnc_id": 26424,
"hgvs_c": "n.101C>A",
"hgvs_p": null,
"transcript": "ENST00000496101.5",
"protein_id": "ENSP00000434588.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000496101.5"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCOM1",
"gene_hgnc_id": 26424,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Asn",
"transcript": "NM_001285900.3",
"protein_id": "NP_001272829.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 765,
"cds_start": 101,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001285900.3"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCOM1",
"gene_hgnc_id": 26424,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Asn",
"transcript": "NM_001018090.6",
"protein_id": "NP_001018100.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 550,
"cds_start": 101,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018090.6"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCOM1",
"gene_hgnc_id": 26424,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Asn",
"transcript": "ENST00000380569.6",
"protein_id": "ENSP00000369943.2",
"transcript_support_level": 2,
"aa_start": 34,
"aa_end": null,
"aa_length": 550,
"cds_start": 101,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380569.6"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYZAP",
"gene_hgnc_id": 43444,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Asn",
"transcript": "ENST00000854763.1",
"protein_id": "ENSP00000524822.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 523,
"cds_start": 101,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854763.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYZAP",
"gene_hgnc_id": 43444,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Asn",
"transcript": "ENST00000941207.1",
"protein_id": "ENSP00000611266.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 515,
"cds_start": 101,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941207.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYZAP",
"gene_hgnc_id": 43444,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Asn",
"transcript": "ENST00000941204.1",
"protein_id": "ENSP00000611263.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 495,
"cds_start": 101,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941204.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYZAP",
"gene_hgnc_id": 43444,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Asn",
"transcript": "ENST00000854759.1",
"protein_id": "ENSP00000524818.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 486,
"cds_start": 101,
"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": "ENST00000854759.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYZAP",
"gene_hgnc_id": 43444,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Asn",
"transcript": "ENST00000854765.1",
"protein_id": "ENSP00000524824.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 473,
"cds_start": 101,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854765.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYZAP",
"gene_hgnc_id": 43444,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Asn",
"transcript": "ENST00000941206.1",
"protein_id": "ENSP00000611265.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 472,
"cds_start": 101,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941206.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYZAP",
"gene_hgnc_id": 43444,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Asn",
"transcript": "ENST00000854758.1",
"protein_id": "ENSP00000524817.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 454,
"cds_start": 101,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854758.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCOM1",
"gene_hgnc_id": 26424,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Asn",
"transcript": "NM_001018091.6",
"protein_id": "NP_001018101.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 445,
"cds_start": 101,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001018091.6"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCOM1",
"gene_hgnc_id": 26424,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Asn",
"transcript": "ENST00000380568.7",
"protein_id": "ENSP00000369942.3",
"transcript_support_level": 2,
"aa_start": 34,
"aa_end": null,
"aa_length": 445,
"cds_start": 101,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380568.7"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYZAP",
"gene_hgnc_id": 43444,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Asn",
"transcript": "ENST00000941202.1",
"protein_id": "ENSP00000611261.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 442,
"cds_start": 101,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941202.1"
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYZAP",
"gene_hgnc_id": 43444,
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Asn",
"transcript": "NM_152451.8",
"protein_id": "NP_689664.3",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 438,
"cds_start": 101,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
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"exon_count": 12,
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
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"gene_symbol": "GCOM1",
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"transcript": "NR_104371.3",
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"biotype": "pseudogene",
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],
"gene_symbol": "GCOM1",
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"dbsnp": "rs140163703",
"frequency_reference_population": 0.0000030977014,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000273623,
"gnomad_genomes_af": 0.00000656892,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3188418745994568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.154,
"revel_prediction": "Benign",
"alphamissense_score": 0.6946,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.231,
"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_001285900.3",
"gene_symbol": "GCOM1",
"hgnc_id": 26424,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Asn"
},
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001018100.5",
"gene_symbol": "MYZAP",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.101C>A",
"hgvs_p": "p.Thr34Asn"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}