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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: 4-145514621-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=145514621&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 145514621,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000302085.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "NM_005900.3",
"protein_id": "NP_005891.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 465,
"cds_start": 8,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 3002,
"mane_select": "ENST00000302085.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "ENST00000302085.9",
"protein_id": "ENSP00000305769.4",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 465,
"cds_start": 8,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 3002,
"mane_select": "NM_005900.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "ENST00000394092.6",
"protein_id": "ENSP00000377652.2",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 465,
"cds_start": 8,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "NM_001003688.1",
"protein_id": "NP_001003688.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 465,
"cds_start": 8,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 2880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "NM_001354811.1",
"protein_id": "NP_001341740.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 465,
"cds_start": 8,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "NM_001354812.1",
"protein_id": "NP_001341741.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 465,
"cds_start": 8,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "NM_001354813.1",
"protein_id": "NP_001341742.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 465,
"cds_start": 8,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 2919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "NM_001354814.1",
"protein_id": "NP_001341743.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 465,
"cds_start": 8,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "NM_001354816.1",
"protein_id": "NP_001341745.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 465,
"cds_start": 8,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "NM_001354817.1",
"protein_id": "NP_001341746.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 465,
"cds_start": 8,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 3188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "ENST00000515385.1",
"protein_id": "ENSP00000426568.1",
"transcript_support_level": 2,
"aa_start": 3,
"aa_end": null,
"aa_length": 465,
"cds_start": 8,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "SMAD1",
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"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "ENST00000512019.1",
"protein_id": "ENSP00000427002.1",
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"aa_start": 3,
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"aa_length": 132,
"cds_start": 8,
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"cds_length": 400,
"cdna_start": 455,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "ENST00000514831.1",
"protein_id": "ENSP00000425270.1",
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"aa_start": 3,
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"cds_start": 8,
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"cdna_start": 239,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "SMAD1",
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"hgvs_c": "c.8T>C",
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"transcript": "ENST00000514778.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "ENST00000507594.1",
"protein_id": "ENSP00000424649.1",
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"aa_start": 3,
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"cds_start": 8,
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"cdna_start": 279,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "SMAD1",
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"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "ENST00000503324.1",
"protein_id": "ENSP00000422706.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "SMAD1",
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"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "ENST00000507367.1",
"protein_id": "ENSP00000421601.1",
"transcript_support_level": 3,
"aa_start": 3,
"aa_end": null,
"aa_length": 9,
"cds_start": 8,
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"cds_length": 30,
"cdna_start": 399,
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"cdna_length": 421,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "XM_011531962.3",
"protein_id": "XP_011530264.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 465,
"cds_start": 8,
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"cdna_start": 3751,
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"biotype": null,
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},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": 2,
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"gene_symbol": "SMAD1",
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"hgvs_c": "c.8T>C",
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"transcript": "XM_011531964.3",
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},
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],
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"intron_rank": null,
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"gene_symbol": "SMAD1",
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"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "XM_047415688.1",
"protein_id": "XP_047271644.1",
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"aa_start": 3,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "XM_047415689.1",
"protein_id": "XP_047271645.1",
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"cdna_start": 9496,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "XM_047415690.1",
"protein_id": "XP_047271646.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 465,
"cds_start": 8,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 257,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala",
"transcript": "XM_047415691.1",
"protein_id": "XP_047271647.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
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{
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},
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{
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}
],
"gene_symbol": "SMAD1",
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"dbsnp": "rs587777018",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.48603469133377075,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.482,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3334,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.018,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000302085.9",
"gene_symbol": "SMAD1",
"hgnc_id": 6767,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.8T>C",
"hgvs_p": "p.Val3Ala"
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000513542.1",
"gene_symbol": "SMAD1-AS1",
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"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.475A>G",
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}
],
"clinvar_disease": " 1, primary,Pulmonary hypertension,Variant of unknown significance",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Variant of unknown significance|Pulmonary hypertension, primary, 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}