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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: 15-83119675-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=83119675&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 83119675,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_023003.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"transcript": "NM_023003.5",
"protein_id": "NP_075379.2",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 370,
"cds_start": 392,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322019.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023003.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"transcript": "ENST00000322019.14",
"protein_id": "ENSP00000317000.9",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 370,
"cds_start": 392,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_023003.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322019.14"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"transcript": "ENST00000565774.5",
"protein_id": "ENSP00000457477.1",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 339,
"cds_start": 392,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565774.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"transcript": "ENST00000379390.10",
"protein_id": "ENSP00000368700.6",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 188,
"cds_start": 392,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379390.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "n.392C>T",
"hgvs_p": null,
"transcript": "ENST00000258909.13",
"protein_id": "ENSP00000258909.9",
"transcript_support_level": 1,
"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": "ENST00000258909.13"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"transcript": "ENST00000948708.1",
"protein_id": "ENSP00000618767.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 368,
"cds_start": 392,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948708.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ala128Val",
"transcript": "ENST00000880031.1",
"protein_id": "ENSP00000550090.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 367,
"cds_start": 383,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880031.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"transcript": "NM_001353878.2",
"protein_id": "NP_001340807.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 360,
"cds_start": 392,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353878.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"transcript": "NM_001144903.3",
"protein_id": "NP_001138375.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 339,
"cds_start": 392,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144903.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "c.119C>T",
"hgvs_p": "p.Ala40Val",
"transcript": "NM_001353879.2",
"protein_id": "NP_001340808.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 279,
"cds_start": 119,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353879.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "c.119C>T",
"hgvs_p": "p.Ala40Val",
"transcript": "NM_001353880.2",
"protein_id": "NP_001340809.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 248,
"cds_start": 119,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353880.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"transcript": "NM_001330385.3",
"protein_id": "NP_001317314.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 188,
"cds_start": 392,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330385.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "c.119C>T",
"hgvs_p": "p.Ala40Val",
"transcript": "ENST00000565982.1",
"protein_id": "ENSP00000454275.1",
"transcript_support_level": 3,
"aa_start": 40,
"aa_end": null,
"aa_length": 165,
"cds_start": 119,
"cds_end": null,
"cds_length": 499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565982.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"transcript": "XM_011521679.3",
"protein_id": "XP_011519981.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 373,
"cds_start": 392,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521679.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "c.-106C>T",
"hgvs_p": null,
"transcript": "NM_001353881.2",
"protein_id": "NP_001340810.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 222,
"cds_start": null,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353881.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "c.-106C>T",
"hgvs_p": null,
"transcript": "NM_001353882.2",
"protein_id": "NP_001340811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 222,
"cds_start": null,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353882.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "c.-1C>T",
"hgvs_p": null,
"transcript": "NM_001353883.2",
"protein_id": "NP_001340812.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": null,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353883.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "c.-1C>T",
"hgvs_p": null,
"transcript": "NM_001353884.2",
"protein_id": "NP_001340813.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 171,
"cds_start": null,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353884.2"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "c.294+3733C>T",
"hgvs_p": null,
"transcript": "ENST00000948709.1",
"protein_id": "ENSP00000618768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": null,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948709.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "HDGFL3",
"gene_hgnc_id": 24937,
"hgvs_c": "c.394-3934G>A",
"hgvs_p": null,
"transcript": "ENST00000568294.5",
"protein_id": "ENSP00000455388.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568294.5"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "HDGFL3",
"gene_hgnc_id": 24937,
"hgvs_c": "c.607-3934G>A",
"hgvs_p": null,
"transcript": "XM_006720554.5",
"protein_id": "XP_006720617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 212,
"cds_start": null,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720554.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "n.392C>T",
"hgvs_p": null,
"transcript": "ENST00000379384.9",
"protein_id": "ENSP00000368693.5",
"transcript_support_level": 5,
"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": "ENST00000379384.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "TM6SF1",
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"hgvs_c": "n.504C>T",
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"transcript": "ENST00000564988.5",
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"transcript_support_level": 4,
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"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": "ENST00000564988.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "n.428C>T",
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"transcript": "NR_148560.2",
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"aa_end": null,
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"cds_start": null,
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"biotype": "pseudogene",
"feature": "NR_148560.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
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"hgvs_c": "n.428C>T",
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"transcript": "NR_148561.2",
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_148561.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
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"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "n.428C>T",
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"transcript": "XR_007064460.1",
"protein_id": null,
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064460.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"hgvs_c": "n.428C>T",
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"transcript": "XR_931848.3",
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"aa_length": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_931848.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HDGFL3",
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"hgvs_c": "n.1016-3934G>A",
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"transcript": "XR_001751298.3",
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"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": "XR_001751298.3"
}
],
"gene_symbol": "TM6SF1",
"gene_hgnc_id": 11860,
"dbsnp": "rs774115059",
"frequency_reference_population": 0.00006753282,
"hom_count_reference_population": 0,
"allele_count_reference_population": 109,
"gnomad_exomes_af": 0.000068407,
"gnomad_genomes_af": 0.0000591358,
"gnomad_exomes_ac": 100,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2944902181625366,
"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": 0.594,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.021,
"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": 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_023003.5",
"gene_symbol": "TM6SF1",
"hgnc_id": 11860,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000568294.5",
"gene_symbol": "HDGFL3",
"hgnc_id": 24937,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.394-3934G>A",
"hgvs_p": null
}
],
"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
}