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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: 13-36872841-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=36872841&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 36872841,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000379826.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Ala163Thr",
"transcript": "NM_001127217.3",
"protein_id": "NP_001120689.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 467,
"cds_start": 487,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 5558,
"mane_select": "ENST00000379826.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Ala163Thr",
"transcript": "ENST00000379826.5",
"protein_id": "ENSP00000369154.4",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 467,
"cds_start": 487,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 5558,
"mane_select": "NM_001127217.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Ala163Thr",
"transcript": "ENST00000350148.10",
"protein_id": "ENSP00000239885.6",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 430,
"cds_start": 487,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 2208,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "n.*197G>A",
"hgvs_p": null,
"transcript": "ENST00000399275.7",
"protein_id": "ENSP00000382216.3",
"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": 1588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "n.*197G>A",
"hgvs_p": null,
"transcript": "ENST00000399275.7",
"protein_id": "ENSP00000382216.3",
"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": 1588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Ala163Thr",
"transcript": "ENST00000715264.1",
"protein_id": "ENSP00000520435.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 467,
"cds_start": 487,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 5577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Ala163Thr",
"transcript": "NM_001378621.1",
"protein_id": "NP_001365550.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 430,
"cds_start": 487,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 5350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Ala163Thr",
"transcript": "NM_005905.6",
"protein_id": "NP_005896.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 430,
"cds_start": 487,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 5447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Ala163Thr",
"transcript": "XM_006719827.4",
"protein_id": "XP_006719890.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 479,
"cds_start": 487,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 9353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Ala163Thr",
"transcript": "XM_047430354.1",
"protein_id": "XP_047286310.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 479,
"cds_start": 487,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 9256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Ala163Thr",
"transcript": "XM_047430355.1",
"protein_id": "XP_047286311.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 479,
"cds_start": 487,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 3052,
"cdna_end": null,
"cdna_length": 11512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Ala163Thr",
"transcript": "XM_047430356.1",
"protein_id": "XP_047286312.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 479,
"cds_start": 487,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 9159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Ala163Thr",
"transcript": "XM_047430357.1",
"protein_id": "XP_047286313.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 467,
"cds_start": 487,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 5461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Ala163Thr",
"transcript": "XM_047430358.1",
"protein_id": "XP_047286314.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
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"cdna_start": 4053,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Ala163Thr",
"transcript": "XM_047430359.1",
"protein_id": "XP_047286315.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 467,
"cds_start": 487,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 3048,
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"cdna_length": 7810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Ala163Thr",
"transcript": "XM_047430360.1",
"protein_id": "XP_047286316.1",
"transcript_support_level": null,
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"aa_end": null,
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"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Ala163Thr",
"transcript": "XM_047430361.1",
"protein_id": "XP_047286317.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 442,
"cds_start": 487,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 9145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Ala163Thr",
"transcript": "XM_047430362.1",
"protein_id": "XP_047286318.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 442,
"cds_start": 487,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 699,
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"cdna_length": 9048,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Ala163Thr",
"transcript": "XM_047430363.1",
"protein_id": "XP_047286319.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
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"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Ala163Thr",
"transcript": "XM_047430364.1",
"protein_id": "XP_047286320.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
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"cdna_start": 3050,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.413-5458G>A",
"hgvs_p": null,
"transcript": "XM_005266403.4",
"protein_id": "XP_005266460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 8998,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.413-5458G>A",
"hgvs_p": null,
"transcript": "XM_047430365.1",
"protein_id": "XP_047286321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": -4,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5300,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.412+6437G>A",
"hgvs_p": null,
"transcript": "XM_005266404.4",
"protein_id": "XP_005266461.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.412+6437G>A",
"hgvs_p": null,
"transcript": "XM_047430366.1",
"protein_id": "XP_047286322.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 344,
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"cdna_length": 5189,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"hgvs_c": "c.412+6437G>A",
"hgvs_p": null,
"transcript": "XM_047430367.1",
"protein_id": "XP_047286323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 344,
"cds_start": -4,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SMAD9",
"gene_hgnc_id": 6774,
"dbsnp": "rs61753157",
"frequency_reference_population": 0.0025371872,
"hom_count_reference_population": 7,
"allele_count_reference_population": 4095,
"gnomad_exomes_af": 0.00265207,
"gnomad_genomes_af": 0.00143314,
"gnomad_exomes_ac": 3877,
"gnomad_genomes_ac": 218,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.011640459299087524,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.229,
"revel_prediction": "Benign",
"alphamissense_score": 0.0675,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.59,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000379826.5",
"gene_symbol": "SMAD9",
"hgnc_id": 6774,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Ala163Thr"
}
],
"clinvar_disease": " 2, primary,Pulmonary hypertension,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5",
"phenotype_combined": "not specified|Pulmonary hypertension, primary, 2",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}