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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: 4-145507232-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=145507232&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 145507232,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_005900.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.-176-7206A>G",
"hgvs_p": null,
"transcript": "NM_005900.3",
"protein_id": "NP_005891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3002,
"mane_select": "ENST00000302085.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005900.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.-176-7206A>G",
"hgvs_p": null,
"transcript": "ENST00000302085.9",
"protein_id": "ENSP00000305769.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3002,
"mane_select": "NM_005900.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302085.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.-176-7206A>G",
"hgvs_p": null,
"transcript": "ENST00000394092.6",
"protein_id": "ENSP00000377652.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394092.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.-6427A>G",
"hgvs_p": null,
"transcript": "XM_047415689.1",
"protein_id": "XP_047271645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415689.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.-176-7206A>G",
"hgvs_p": null,
"transcript": "NM_001003688.1",
"protein_id": "NP_001003688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003688.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.-176-7206A>G",
"hgvs_p": null,
"transcript": "NM_001354811.1",
"protein_id": "NP_001341740.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354811.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.-176-7206A>G",
"hgvs_p": null,
"transcript": "NM_001354812.1",
"protein_id": "NP_001341741.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354812.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.-176-7206A>G",
"hgvs_p": null,
"transcript": "NM_001354813.1",
"protein_id": "NP_001341742.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354813.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.-176-7206A>G",
"hgvs_p": null,
"transcript": "NM_001354814.1",
"protein_id": "NP_001341743.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354814.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.-176-7206A>G",
"hgvs_p": null,
"transcript": "NM_001354816.1",
"protein_id": "NP_001341745.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354816.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.-176-7206A>G",
"hgvs_p": null,
"transcript": "NM_001354817.1",
"protein_id": "NP_001341746.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
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"cds_length": 1398,
"cdna_start": null,
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"cdna_length": 3188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354817.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.-176-7206A>G",
"hgvs_p": null,
"transcript": "ENST00000515385.1",
"protein_id": "ENSP00000426568.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515385.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.-176-7206A>G",
"hgvs_p": null,
"transcript": "ENST00000885680.1",
"protein_id": "ENSP00000555739.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 465,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000885680.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "SMAD1",
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"hgvs_c": "c.-176-7206A>G",
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"transcript": "ENST00000885681.1",
"protein_id": "ENSP00000555740.1",
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"biotype": "protein_coding",
"feature": "ENST00000885681.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.-176-7206A>G",
"hgvs_p": null,
"transcript": "ENST00000885682.1",
"protein_id": "ENSP00000555741.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000885682.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
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"gene_symbol": "SMAD1",
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"hgvs_c": "c.-176-7206A>G",
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"transcript": "ENST00000885686.1",
"protein_id": "ENSP00000555745.1",
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"biotype": "protein_coding",
"feature": "ENST00000885686.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.-176-7206A>G",
"hgvs_p": null,
"transcript": "ENST00000885687.1",
"protein_id": "ENSP00000555746.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000885687.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.-176-7206A>G",
"hgvs_p": null,
"transcript": "ENST00000885688.1",
"protein_id": "ENSP00000555747.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000885688.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.-177+3253A>G",
"hgvs_p": null,
"transcript": "ENST00000885689.1",
"protein_id": "ENSP00000555748.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
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"hgvs_c": "c.-176-7206A>G",
"hgvs_p": null,
"transcript": "ENST00000919687.1",
"protein_id": "ENSP00000589746.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.-176-7206A>G",
"hgvs_p": null,
"transcript": "ENST00000957200.1",
"protein_id": "ENSP00000627259.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957200.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"hgvs_c": "c.-176-7206A>G",
"hgvs_p": null,
"transcript": "ENST00000957201.1",
"protein_id": "ENSP00000627260.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 465,
"cds_start": null,
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"cds_length": 1398,
"cdna_start": null,
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"cdna_length": 2264,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957201.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 632,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000515527.1"
}
],
"gene_symbol": "SMAD1",
"gene_hgnc_id": 6767,
"dbsnp": "rs2118438",
"frequency_reference_population": 0.8182828,
"hom_count_reference_population": 51626,
"allele_count_reference_population": 123744,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.818283,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 123744,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 51626,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -1.0399999618530273,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -1.04,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.19,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_005900.3",
"gene_symbol": "SMAD1",
"hgnc_id": 6767,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-176-7206A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}