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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: 2-216428719-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=216428719&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 216428719,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000357276.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1271A>T",
"hgvs_p": "p.Asp424Val",
"transcript": "NM_014140.4",
"protein_id": "NP_054859.2",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 954,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": "ENST00000357276.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1271A>T",
"hgvs_p": "p.Asp424Val",
"transcript": "ENST00000357276.9",
"protein_id": "ENSP00000349823.4",
"transcript_support_level": 2,
"aa_start": 424,
"aa_end": null,
"aa_length": 954,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": "NM_014140.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1271A>T",
"hgvs_p": "p.Asp424Val",
"transcript": "ENST00000358207.9",
"protein_id": "ENSP00000350940.5",
"transcript_support_level": 1,
"aa_start": 424,
"aa_end": null,
"aa_length": 954,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.863A>T",
"hgvs_p": "p.Asp288Val",
"transcript": "ENST00000392128.6",
"protein_id": "ENSP00000375974.2",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 796,
"cds_start": 863,
"cds_end": null,
"cds_length": 2391,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 2431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1271A>T",
"hgvs_p": "p.Asp424Val",
"transcript": "NM_001127207.2",
"protein_id": "NP_001120679.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 954,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 3070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1271A>T",
"hgvs_p": "p.Asp424Val",
"transcript": "ENST00000425815.6",
"protein_id": "ENSP00000394410.2",
"transcript_support_level": 3,
"aa_start": 424,
"aa_end": null,
"aa_length": 954,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1523,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1271A>T",
"hgvs_p": "p.Asp424Val",
"transcript": "ENST00000430374.6",
"protein_id": "ENSP00000405077.2",
"transcript_support_level": 2,
"aa_start": 424,
"aa_end": null,
"aa_length": 954,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1271A>T",
"hgvs_p": "p.Asp424Val",
"transcript": "ENST00000444508.6",
"protein_id": "ENSP00000398969.2",
"transcript_support_level": 2,
"aa_start": 424,
"aa_end": null,
"aa_length": 954,
"cds_start": 1271,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1037A>T",
"hgvs_p": "p.Asp346Val",
"transcript": "ENST00000697899.1",
"protein_id": "ENSP00000513470.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 876,
"cds_start": 1037,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 2977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.1037A>T",
"hgvs_p": "p.Asp346Val",
"transcript": "ENST00000697906.1",
"protein_id": "ENSP00000513475.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 876,
"cds_start": 1037,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.917A>T",
"hgvs_p": "p.Asp306Val",
"transcript": "ENST00000427645.5",
"protein_id": "ENSP00000392997.1",
"transcript_support_level": 3,
"aa_start": 306,
"aa_end": null,
"aa_length": 324,
"cds_start": 917,
"cds_end": null,
"cds_length": 977,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 977,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "n.515A>T",
"hgvs_p": null,
"transcript": "ENST00000479008.1",
"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": 633,
"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": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "n.1632A>T",
"hgvs_p": null,
"transcript": "ENST00000697898.1",
"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": 3700,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "n.1547A>T",
"hgvs_p": null,
"transcript": "ENST00000697900.1",
"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": 3198,
"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": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "n.*129A>T",
"hgvs_p": null,
"transcript": "ENST00000697901.1",
"protein_id": "ENSP00000513471.1",
"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,
"cdna_end": null,
"cdna_length": 3028,
"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": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "n.1503A>T",
"hgvs_p": null,
"transcript": "ENST00000697902.1",
"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": 3173,
"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": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "n.1271A>T",
"hgvs_p": null,
"transcript": "ENST00000697903.1",
"protein_id": "ENSP00000513472.1",
"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,
"cdna_end": null,
"cdna_length": 3002,
"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": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "n.1271A>T",
"hgvs_p": null,
"transcript": "ENST00000697904.1",
"protein_id": "ENSP00000513473.1",
"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,
"cdna_end": null,
"cdna_length": 2926,
"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": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "n.1271A>T",
"hgvs_p": null,
"transcript": "ENST00000697905.1",
"protein_id": "ENSP00000513474.1",
"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,
"cdna_end": null,
"cdna_length": 2962,
"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": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "n.*129A>T",
"hgvs_p": null,
"transcript": "ENST00000697907.1",
"protein_id": "ENSP00000513476.1",
"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,
"cdna_end": null,
"cdna_length": 3054,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "n.1068A>T",
"hgvs_p": null,
"transcript": "ENST00000697908.1",
"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": 3036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "n.*129A>T",
"hgvs_p": null,
"transcript": "ENST00000697901.1",
"protein_id": "ENSP00000513471.1",
"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,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "n.*129A>T",
"hgvs_p": null,
"transcript": "ENST00000697907.1",
"protein_id": "ENSP00000513476.1",
"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,
"cdna_end": null,
"cdna_length": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.-59A>T",
"hgvs_p": null,
"transcript": "ENST00000445153.1",
"protein_id": "ENSP00000400473.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": -4,
"cds_end": null,
"cds_length": 482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"hgvs_c": "c.*7A>T",
"hgvs_p": null,
"transcript": "ENST00000412913.1",
"protein_id": "ENSP00000390248.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": -4,
"cds_end": null,
"cds_length": 424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SMARCAL1",
"gene_hgnc_id": 11102,
"dbsnp": "rs2066520",
"frequency_reference_population": 0.0030101524,
"hom_count_reference_population": 12,
"allele_count_reference_population": 4859,
"gnomad_exomes_af": 0.00310288,
"gnomad_genomes_af": 0.00212034,
"gnomad_exomes_ac": 4536,
"gnomad_genomes_ac": 323,
"gnomad_exomes_homalt": 12,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.014533311128616333,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.56,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1668,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.176,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000357276.9",
"gene_symbol": "SMARCAL1",
"hgnc_id": 11102,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1271A>T",
"hgvs_p": "p.Asp424Val"
}
],
"clinvar_disease": "Kidney disorder,SMARCAL1-related disorder,Schimke immuno-osseous dysplasia,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:3 B:1",
"phenotype_combined": "Schimke immuno-osseous dysplasia|not specified|Kidney disorder|not provided|SMARCAL1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}