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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: 17-82946964-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82946964&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 82946964,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001320742.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTGAL",
"gene_hgnc_id": 21727,
"hgvs_c": "c.980T>C",
"hgvs_p": "p.Phe327Ser",
"transcript": "NM_001009905.3",
"protein_id": "NP_001009905.2",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 346,
"cds_start": 980,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320865.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009905.3"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNTL1",
"gene_hgnc_id": 21727,
"hgvs_c": "c.980T>C",
"hgvs_p": "p.Phe327Ser",
"transcript": "ENST00000320865.4",
"protein_id": "ENSP00000319979.4",
"transcript_support_level": 1,
"aa_start": 327,
"aa_end": null,
"aa_length": 346,
"cds_start": 980,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001009905.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320865.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNTL1",
"gene_hgnc_id": 21727,
"hgvs_c": "n.2985T>C",
"hgvs_p": null,
"transcript": "ENST00000571301.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000571301.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTGAL",
"gene_hgnc_id": 21727,
"hgvs_c": "c.983T>C",
"hgvs_p": "p.Phe328Ser",
"transcript": "NM_001320742.2",
"protein_id": "NP_001307671.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 347,
"cds_start": 983,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320742.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNTL1",
"gene_hgnc_id": 21727,
"hgvs_c": "c.980T>C",
"hgvs_p": "p.Phe327Ser",
"transcript": "ENST00000905888.1",
"protein_id": "ENSP00000575947.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 346,
"cds_start": 980,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905888.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNTL1",
"gene_hgnc_id": 21727,
"hgvs_c": "c.980T>C",
"hgvs_p": "p.Phe327Ser",
"transcript": "ENST00000905890.1",
"protein_id": "ENSP00000575949.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 346,
"cds_start": 980,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905890.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNTL1",
"gene_hgnc_id": 21727,
"hgvs_c": "c.980T>C",
"hgvs_p": "p.Phe327Ser",
"transcript": "ENST00000905891.1",
"protein_id": "ENSP00000575950.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 346,
"cds_start": 980,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905891.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNTL1",
"gene_hgnc_id": 21727,
"hgvs_c": "c.980T>C",
"hgvs_p": "p.Phe327Ser",
"transcript": "ENST00000905892.1",
"protein_id": "ENSP00000575951.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 346,
"cds_start": 980,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905892.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNTL1",
"gene_hgnc_id": 21727,
"hgvs_c": "c.884T>C",
"hgvs_p": "p.Phe295Ser",
"transcript": "ENST00000915988.1",
"protein_id": "ENSP00000586047.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 314,
"cds_start": 884,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915988.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNTL1",
"gene_hgnc_id": 21727,
"hgvs_c": "c.692T>C",
"hgvs_p": "p.Phe231Ser",
"transcript": "ENST00000576599.5",
"protein_id": "ENSP00000461127.1",
"transcript_support_level": 2,
"aa_start": 231,
"aa_end": null,
"aa_length": 250,
"cds_start": 692,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576599.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTGAL",
"gene_hgnc_id": 21727,
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Phe164Ser",
"transcript": "NM_001320743.2",
"protein_id": "NP_001307672.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 183,
"cds_start": 491,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320743.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTGAL",
"gene_hgnc_id": 21727,
"hgvs_c": "c.983T>C",
"hgvs_p": "p.Phe328Ser",
"transcript": "XM_047435393.1",
"protein_id": "XP_047291349.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 347,
"cds_start": 983,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435393.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTGAL",
"gene_hgnc_id": 21727,
"hgvs_c": "c.884T>C",
"hgvs_p": "p.Phe295Ser",
"transcript": "XM_047435395.1",
"protein_id": "XP_047291351.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 314,
"cds_start": 884,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435395.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTGAL",
"gene_hgnc_id": 21727,
"hgvs_c": "c.818T>C",
"hgvs_p": "p.Phe273Ser",
"transcript": "XM_047435396.1",
"protein_id": "XP_047291352.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 292,
"cds_start": 818,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435396.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTGAL",
"gene_hgnc_id": 21727,
"hgvs_c": "c.692T>C",
"hgvs_p": "p.Phe231Ser",
"transcript": "XM_047435397.1",
"protein_id": "XP_047291353.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 250,
"cds_start": 692,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435397.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTGAL",
"gene_hgnc_id": 21727,
"hgvs_c": "c.674T>C",
"hgvs_p": "p.Phe225Ser",
"transcript": "XM_047435398.1",
"protein_id": "XP_047291354.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 244,
"cds_start": 674,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435398.1"
},
{
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "B3GNTL1",
"gene_hgnc_id": 21727,
"hgvs_c": "c.961-32T>C",
"hgvs_p": null,
"transcript": "ENST00000905889.1",
"protein_id": "ENSP00000575948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": null,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905889.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNTL1",
"gene_hgnc_id": 21727,
"hgvs_c": "n.704T>C",
"hgvs_p": null,
"transcript": "ENST00000571394.1",
"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": "retained_intron",
"feature": "ENST00000571394.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GNTL1",
"gene_hgnc_id": 21727,
"hgvs_c": "n.491T>C",
"hgvs_p": null,
"transcript": "ENST00000572977.5",
"protein_id": "ENSP00000459327.1",
"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": "ENST00000572977.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "B3GNTL1",
"gene_hgnc_id": 21727,
"hgvs_c": "n.127T>C",
"hgvs_p": null,
"transcript": "ENST00000573363.5",
"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": "retained_intron",
"feature": "ENST00000573363.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTGAL",
"gene_hgnc_id": 21727,
"hgvs_c": "n.1354T>C",
"hgvs_p": null,
"transcript": "NR_135465.2",
"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_135465.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "QTGAL",
"gene_hgnc_id": 21727,
"hgvs_c": "n.1634T>C",
"hgvs_p": null,
"transcript": "NR_135466.2",
"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_135466.2"
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 12,
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"gene_symbol": "QTGAL",
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"biotype": "pseudogene",
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},
{
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"protein_coding": false,
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"consequences": [
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"gene_symbol": "QTGAL",
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"biotype": "pseudogene",
"feature": "XR_002957963.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "QTGAL",
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"hgvs_c": "n.999T>C",
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"biotype": "pseudogene",
"feature": "XR_002957964.2"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "QTGAL",
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"feature": "XR_007065266.1"
},
{
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"protein_coding": false,
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"consequences": [
"non_coding_transcript_exon_variant"
],
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"biotype": "pseudogene",
"feature": "XR_007065267.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "QTGAL",
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"hgvs_c": "n.1215T>C",
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"transcript": "XR_933927.3",
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"biotype": "pseudogene",
"feature": "XR_933927.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "B3GNTL1",
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"hgvs_c": "n.51-5T>C",
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"transcript": "ENST00000570947.5",
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"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": "ENST00000570947.5"
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],
"gene_symbol": "QTGAL",
"gene_hgnc_id": 21727,
"dbsnp": "rs752672514",
"frequency_reference_population": 0.000004466673,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000424049,
"gnomad_genomes_af": 0.00000656901,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6393057703971863,
"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": 0.277,
"revel_prediction": "Benign",
"alphamissense_score": 0.8602,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.231,
"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_001320742.2",
"gene_symbol": "QTGAL",
"hgnc_id": 21727,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.983T>C",
"hgvs_p": "p.Phe328Ser"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000320865.4",
"gene_symbol": "B3GNTL1",
"hgnc_id": 21727,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.980T>C",
"hgvs_p": "p.Phe327Ser"
}
],
"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
}