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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: 17-61392041-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=61392041&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 61392041,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_017679.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2658A>G",
"hgvs_p": "p.Ile886Met",
"transcript": "NM_017679.5",
"protein_id": "NP_060149.3",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 913,
"cds_start": 2658,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2727,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": "ENST00000407086.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2658A>G",
"hgvs_p": "p.Ile886Met",
"transcript": "ENST00000407086.8",
"protein_id": "ENSP00000385323.2",
"transcript_support_level": 1,
"aa_start": 886,
"aa_end": null,
"aa_length": 913,
"cds_start": 2658,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2727,
"cdna_end": null,
"cdna_length": 3517,
"mane_select": "NM_017679.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2703A>G",
"hgvs_p": "p.Ile901Met",
"transcript": "ENST00000390652.9",
"protein_id": "ENSP00000375067.4",
"transcript_support_level": 1,
"aa_start": 901,
"aa_end": null,
"aa_length": 928,
"cds_start": 2703,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2734,
"cdna_end": null,
"cdna_length": 3531,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "n.1304A>G",
"hgvs_p": null,
"transcript": "ENST00000592702.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.*28A>G",
"hgvs_p": null,
"transcript": "ENST00000589222.5",
"protein_id": "ENSP00000466078.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 928,
"cds_start": -4,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2793A>G",
"hgvs_p": "p.Ile931Met",
"transcript": "NM_001353144.2",
"protein_id": "NP_001340073.1",
"transcript_support_level": null,
"aa_start": 931,
"aa_end": null,
"aa_length": 958,
"cds_start": 2793,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 2862,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2769A>G",
"hgvs_p": "p.Ile923Met",
"transcript": "NM_001330413.2",
"protein_id": "NP_001317342.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 950,
"cds_start": 2769,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 2838,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2769A>G",
"hgvs_p": "p.Ile923Met",
"transcript": "ENST00000588462.5",
"protein_id": "ENSP00000468592.1",
"transcript_support_level": 5,
"aa_start": 923,
"aa_end": null,
"aa_length": 950,
"cds_start": 2769,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 2769,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2748A>G",
"hgvs_p": "p.Ile916Met",
"transcript": "NM_001353145.2",
"protein_id": "NP_001340074.1",
"transcript_support_level": null,
"aa_start": 916,
"aa_end": null,
"aa_length": 943,
"cds_start": 2748,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 2817,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2724A>G",
"hgvs_p": "p.Ile908Met",
"transcript": "NM_001330414.2",
"protein_id": "NP_001317343.1",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 935,
"cds_start": 2724,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2793,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2724A>G",
"hgvs_p": "p.Ile908Met",
"transcript": "ENST00000408905.7",
"protein_id": "ENSP00000386173.2",
"transcript_support_level": 5,
"aa_start": 908,
"aa_end": null,
"aa_length": 935,
"cds_start": 2724,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2724,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2703A>G",
"hgvs_p": "p.Ile901Met",
"transcript": "NM_001099432.3",
"protein_id": "NP_001092902.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 928,
"cds_start": 2703,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2772,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.2016A>G",
"hgvs_p": "p.Ile672Met",
"transcript": "ENST00000585744.5",
"protein_id": "ENSP00000468682.1",
"transcript_support_level": 5,
"aa_start": 672,
"aa_end": null,
"aa_length": 699,
"cds_start": 2016,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2119,
"cdna_end": null,
"cdna_length": 2203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.1971A>G",
"hgvs_p": "p.Ile657Met",
"transcript": "ENST00000588874.5",
"protein_id": "ENSP00000464825.1",
"transcript_support_level": 2,
"aa_start": 657,
"aa_end": null,
"aa_length": 684,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 2948,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "n.1424A>G",
"hgvs_p": null,
"transcript": "ENST00000585812.5",
"protein_id": null,
"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": 2214,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "n.796A>G",
"hgvs_p": null,
"transcript": "ENST00000587294.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 937,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "n.643A>G",
"hgvs_p": null,
"transcript": "ENST00000588569.1",
"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": 875,
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "n.3766A>G",
"hgvs_p": null,
"transcript": "ENST00000588720.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.*28A>G",
"hgvs_p": null,
"transcript": "NM_001320470.3",
"protein_id": "NP_001307399.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 928,
"cds_start": -4,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"hgvs_c": "c.*28A>G",
"hgvs_p": null,
"transcript": "NM_001353146.2",
"protein_id": "NP_001340075.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": -4,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBX2-AS1",
"gene_hgnc_id": 50355,
"hgvs_c": "n.28+8175T>C",
"hgvs_p": null,
"transcript": "ENST00000585765.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBX2-AS1",
"gene_hgnc_id": 50355,
"hgvs_c": "n.104+8175T>C",
"hgvs_p": null,
"transcript": "ENST00000717203.1",
"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": 793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBX2-AS1",
"gene_hgnc_id": 50355,
"hgvs_c": "n.113+8175T>C",
"hgvs_p": null,
"transcript": "ENST00000722629.1",
"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": 513,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "TBX2-AS1",
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"hgvs_c": "n.104+8175T>C",
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"transcript": "ENST00000722630.1",
"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": 753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBX2-AS1",
"gene_hgnc_id": 50355,
"hgvs_c": "n.187+7198T>C",
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"transcript": "ENST00000722631.1",
"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": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BCAS3",
"gene_hgnc_id": 14347,
"dbsnp": "rs777904187",
"frequency_reference_population": 0.000021689124,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000232616,
"gnomad_genomes_af": 0.00000657575,
"gnomad_exomes_ac": 34,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10170426964759827,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.343,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3147,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.147,
"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": "Likely_benign",
"acmg_criteria": "PM1,BP4_Moderate,BS1_Supporting",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Moderate",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_017679.5",
"gene_symbol": "BCAS3",
"hgnc_id": 14347,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2658A>G",
"hgvs_p": "p.Ile886Met"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000717203.1",
"gene_symbol": "TBX2-AS1",
"hgnc_id": 50355,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.104+8175T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}