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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: 5-111500085-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=111500085&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 111500085,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_139164.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Glu140Gly",
"transcript": "NM_139164.3",
"protein_id": "NP_631903.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 205,
"cds_start": 419,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296632.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139164.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Glu140Gly",
"transcript": "ENST00000296632.8",
"protein_id": "ENSP00000296632.3",
"transcript_support_level": 2,
"aa_start": 140,
"aa_end": null,
"aa_length": 205,
"cds_start": 419,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139164.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296632.8"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Glu140Gly",
"transcript": "NM_001308056.2",
"protein_id": "NP_001294985.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 205,
"cds_start": 419,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308056.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Glu140Gly",
"transcript": "ENST00000505803.5",
"protein_id": "ENSP00000427478.2",
"transcript_support_level": 2,
"aa_start": 140,
"aa_end": null,
"aa_length": 205,
"cds_start": 419,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505803.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Glu140Gly",
"transcript": "ENST00000925892.1",
"protein_id": "ENSP00000595951.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 205,
"cds_start": 419,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925892.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Glu140Gly",
"transcript": "ENST00000925893.1",
"protein_id": "ENSP00000595952.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 205,
"cds_start": 419,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925893.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Glu140Gly",
"transcript": "ENST00000925894.1",
"protein_id": "ENSP00000595953.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 205,
"cds_start": 419,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925894.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Glu140Gly",
"transcript": "ENST00000925895.1",
"protein_id": "ENSP00000595954.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 205,
"cds_start": 419,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925895.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Glu140Gly",
"transcript": "ENST00000925897.1",
"protein_id": "ENSP00000595956.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 205,
"cds_start": 419,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925897.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Glu140Gly",
"transcript": "ENST00000954329.1",
"protein_id": "ENSP00000624388.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 205,
"cds_start": 419,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954329.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Glu112Gly",
"transcript": "ENST00000925896.1",
"protein_id": "ENSP00000595955.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 177,
"cds_start": 335,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925896.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "c.173A>G",
"hgvs_p": "p.Glu58Gly",
"transcript": "NM_001308059.2",
"protein_id": "NP_001294988.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 123,
"cds_start": 173,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308059.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "c.173A>G",
"hgvs_p": "p.Glu58Gly",
"transcript": "NM_001308061.2",
"protein_id": "NP_001294990.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 123,
"cds_start": 173,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308061.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.Glu42Gly",
"transcript": "NM_001308060.2",
"protein_id": "NP_001294989.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 107,
"cds_start": 125,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308060.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "c.173A>G",
"hgvs_p": "p.Glu58Gly",
"transcript": "XM_017009044.3",
"protein_id": "XP_016864533.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 123,
"cds_start": 173,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009044.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.Glu42Gly",
"transcript": "XM_017009043.3",
"protein_id": "XP_016864532.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 107,
"cds_start": 125,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009043.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "c.125A>G",
"hgvs_p": "p.Glu42Gly",
"transcript": "XM_047416728.1",
"protein_id": "XP_047272684.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 107,
"cds_start": 125,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416728.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "c.*40A>G",
"hgvs_p": null,
"transcript": "ENST00000512160.5",
"protein_id": "ENSP00000426148.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": null,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512160.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "n.338A>G",
"hgvs_p": null,
"transcript": "ENST00000502931.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000502931.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "n.*124A>G",
"hgvs_p": null,
"transcript": "ENST00000511137.5",
"protein_id": "ENSP00000425014.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000511137.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "n.362A>G",
"hgvs_p": null,
"transcript": "NR_131754.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_131754.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD4",
"gene_hgnc_id": 18058,
"hgvs_c": "n.*124A>G",
"hgvs_p": null,
"transcript": "ENST00000511137.5",
"protein_id": "ENSP00000425014.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000511137.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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{
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{
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{
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},
{
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{
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"strand": true,
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],
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"biotype": "pseudogene",
"feature": "NR_131752.2"
},
{
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],
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"gene_symbol": "STARD4",
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"biotype": "pseudogene",
"feature": "NR_131753.2"
}
],
"gene_symbol": "STARD4",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2835644483566284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.1048,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.665,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_139164.3",
"gene_symbol": "STARD4",
"hgnc_id": 18058,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Glu140Gly"
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}