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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: 3-98791850-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=98791850&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 98791850,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001271145.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"transcript": "NM_001323368.2",
"protein_id": "NP_001310297.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 331,
"cds_start": 766,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000483910.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323368.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"transcript": "ENST00000483910.6",
"protein_id": "ENSP00000417376.1",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 331,
"cds_start": 766,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001323368.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000483910.6"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"transcript": "ENST00000394162.5",
"protein_id": "ENSP00000377717.1",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 331,
"cds_start": 766,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394162.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"transcript": "ENST00000613264.5",
"protein_id": "ENSP00000480884.2",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 331,
"cds_start": 766,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613264.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "n.*563C>T",
"hgvs_p": null,
"transcript": "ENST00000469105.5",
"protein_id": "ENSP00000419690.1",
"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": "ENST00000469105.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "n.*563C>T",
"hgvs_p": null,
"transcript": "ENST00000469105.5",
"protein_id": "ENSP00000419690.1",
"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": "ENST00000469105.5"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.925C>T",
"hgvs_p": "p.His309Tyr",
"transcript": "NM_001271145.2",
"protein_id": "NP_001258074.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 384,
"cds_start": 925,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271145.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"transcript": "NM_001271146.2",
"protein_id": "NP_001258075.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 331,
"cds_start": 766,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271146.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"transcript": "NM_001323352.2",
"protein_id": "NP_001310281.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 331,
"cds_start": 766,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323352.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"transcript": "NM_001323365.2",
"protein_id": "NP_001310294.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 331,
"cds_start": 766,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323365.2"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"transcript": "NM_001323367.4",
"protein_id": "NP_001310296.2",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 331,
"cds_start": 766,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323367.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"transcript": "NM_006100.4",
"protein_id": "NP_006091.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 331,
"cds_start": 766,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006100.4"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"transcript": "ENST00000265261.11",
"protein_id": "ENSP00000265261.7",
"transcript_support_level": 2,
"aa_start": 256,
"aa_end": null,
"aa_length": 331,
"cds_start": 766,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265261.11"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"transcript": "ENST00000881500.1",
"protein_id": "ENSP00000551559.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 331,
"cds_start": 766,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881500.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"transcript": "ENST00000881501.1",
"protein_id": "ENSP00000551560.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 331,
"cds_start": 766,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881501.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"transcript": "ENST00000881502.1",
"protein_id": "ENSP00000551561.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 331,
"cds_start": 766,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881502.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"transcript": "ENST00000881507.1",
"protein_id": "ENSP00000551566.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 331,
"cds_start": 766,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881507.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"transcript": "ENST00000881508.1",
"protein_id": "ENSP00000551567.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 331,
"cds_start": 766,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881508.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"transcript": "ENST00000881509.1",
"protein_id": "ENSP00000551568.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 331,
"cds_start": 766,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881509.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"transcript": "ENST00000881510.1",
"protein_id": "ENSP00000551569.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 331,
"cds_start": 766,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881510.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"transcript": "ENST00000881511.1",
"protein_id": "ENSP00000551570.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 331,
"cds_start": 766,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881511.1"
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "c.766C>T",
"hgvs_p": "p.His256Tyr",
"transcript": "ENST00000881512.1",
"protein_id": "ENSP00000551571.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 331,
"cds_start": 766,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
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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": "ENST00000477899.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "n.*467C>T",
"hgvs_p": null,
"transcript": "ENST00000486249.5",
"protein_id": "ENSP00000420047.1",
"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": "ENST00000486249.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "n.550C>T",
"hgvs_p": null,
"transcript": "ENST00000493953.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000493953.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "n.*467C>T",
"hgvs_p": null,
"transcript": "ENST00000486249.5",
"protein_id": "ENSP00000420047.1",
"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": "ENST00000486249.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "n.435-1825C>T",
"hgvs_p": null,
"transcript": "ENST00000474595.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000474595.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"hgvs_c": "n.-9C>T",
"hgvs_p": null,
"transcript": "ENST00000491912.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000491912.1"
}
],
"gene_symbol": "ST3GAL6",
"gene_hgnc_id": 18080,
"dbsnp": "rs780413810",
"frequency_reference_population": 0.0000062277436,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000412787,
"gnomad_genomes_af": 0.000026284,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5397180914878845,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.138,
"revel_prediction": "Benign",
"alphamissense_score": 0.2943,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.312,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001271145.2",
"gene_symbol": "ST3GAL6",
"hgnc_id": 18080,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.925C>T",
"hgvs_p": "p.His309Tyr"
}
],
"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
}