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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: 3-196075339-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=196075339&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 196075339,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000360110.9",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.58T>C",
"hgvs_p": "p.Tyr20His",
"transcript": "NM_001128148.3",
"protein_id": "NP_001121620.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 760,
"cds_start": 58,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 5012,
"mane_select": "ENST00000360110.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.58T>C",
"hgvs_p": "p.Tyr20His",
"transcript": "ENST00000360110.9",
"protein_id": "ENSP00000353224.4",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 760,
"cds_start": 58,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 5012,
"mane_select": "NM_001128148.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.58T>C",
"hgvs_p": "p.Tyr20His",
"transcript": "ENST00000392396.7",
"protein_id": "ENSP00000376197.3",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 760,
"cds_start": 58,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 5032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.-5-1214T>C",
"hgvs_p": null,
"transcript": "ENST00000420415.5",
"protein_id": "ENSP00000390133.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 679,
"cds_start": -4,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.58T>C",
"hgvs_p": "p.Tyr20His",
"transcript": "ENST00000698283.1",
"protein_id": "ENSP00000513649.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 795,
"cds_start": 58,
"cds_end": null,
"cds_length": 2388,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 5113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.58T>C",
"hgvs_p": "p.Tyr20His",
"transcript": "NM_003234.4",
"protein_id": "NP_003225.2",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 760,
"cds_start": 58,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 5224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.58T>C",
"hgvs_p": "p.Tyr20His",
"transcript": "ENST00000698280.1",
"protein_id": "ENSP00000513646.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 760,
"cds_start": 58,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 5400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.58T>C",
"hgvs_p": "p.Tyr20His",
"transcript": "ENST00000698291.1",
"protein_id": "ENSP00000513654.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 760,
"cds_start": 58,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 112,
"cdna_end": null,
"cdna_length": 4991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "c.58T>C",
"hgvs_p": "p.Tyr20His",
"transcript": "ENST00000698290.1",
"protein_id": "ENSP00000513653.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 686,
"cds_start": 58,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 4786,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "n.58T>C",
"hgvs_p": null,
"transcript": "ENST00000421258.1",
"protein_id": "ENSP00000402839.1",
"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": 524,
"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": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "n.129T>C",
"hgvs_p": null,
"transcript": "ENST00000426789.6",
"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": 2723,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "n.129T>C",
"hgvs_p": null,
"transcript": "ENST00000464011.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 546,
"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": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "n.129T>C",
"hgvs_p": null,
"transcript": "ENST00000475593.6",
"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,
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"cdna_length": 6585,
"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": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "n.129T>C",
"hgvs_p": null,
"transcript": "ENST00000477148.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "n.58T>C",
"hgvs_p": null,
"transcript": "ENST00000698274.1",
"protein_id": "ENSP00000513645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3569,
"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": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "n.129T>C",
"hgvs_p": null,
"transcript": "ENST00000698275.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "n.58T>C",
"hgvs_p": null,
"transcript": "ENST00000698281.1",
"protein_id": "ENSP00000513647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5367,
"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": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "n.58T>C",
"hgvs_p": null,
"transcript": "ENST00000698282.1",
"protein_id": "ENSP00000513648.1",
"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,
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"cdna_length": 4905,
"mane_select": null,
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"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": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "n.129T>C",
"hgvs_p": null,
"transcript": "ENST00000698284.1",
"protein_id": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"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": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "n.341T>C",
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"transcript": "ENST00000698287.1",
"protein_id": null,
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"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "n.58T>C",
"hgvs_p": null,
"transcript": "ENST00000698288.1",
"protein_id": "ENSP00000513652.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"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": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "n.129T>C",
"hgvs_p": null,
"transcript": "ENST00000698289.1",
"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,
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"cdna_length": 6000,
"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": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"hgvs_c": "n.166T>C",
"hgvs_p": null,
"transcript": "ENST00000698292.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6872,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
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{
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{
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{
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"intron_variant"
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{
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{
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{
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"gene_symbol": "TFRC",
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}
],
"gene_symbol": "TFRC",
"gene_hgnc_id": 11763,
"dbsnp": "rs863225436",
"frequency_reference_population": 6.840535e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84053e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.92879319190979,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.454,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6649,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.597,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000360110.9",
"gene_symbol": "TFRC",
"hgnc_id": 11763,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.58T>C",
"hgvs_p": "p.Tyr20His"
}
],
"clinvar_disease": "Combined immunodeficiency,TFRC-related combined immunodeficiency,TFRC-related disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:1 US:1",
"phenotype_combined": "Combined immunodeficiency|TFRC-related combined immunodeficiency|TFRC-related disorder|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}