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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: 17-49705266-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=49705266&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 49705266,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005827.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.386T>C",
"hgvs_p": "p.Val129Ala",
"transcript": "NM_005827.4",
"protein_id": "NP_005818.3",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 322,
"cds_start": 386,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000240333.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005827.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.386T>C",
"hgvs_p": "p.Val129Ala",
"transcript": "ENST00000240333.12",
"protein_id": "ENSP00000240333.8",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 322,
"cds_start": 386,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005827.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000240333.12"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Val166Ala",
"transcript": "ENST00000649906.1",
"protein_id": "ENSP00000497423.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 359,
"cds_start": 497,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649906.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.386T>C",
"hgvs_p": "p.Val129Ala",
"transcript": "ENST00000858530.1",
"protein_id": "ENSP00000528589.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 336,
"cds_start": 386,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858530.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.380T>C",
"hgvs_p": "p.Val127Ala",
"transcript": "ENST00000858533.1",
"protein_id": "ENSP00000528592.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 320,
"cds_start": 380,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858533.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.359T>C",
"hgvs_p": "p.Val120Ala",
"transcript": "ENST00000940145.1",
"protein_id": "ENSP00000610204.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 313,
"cds_start": 359,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940145.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.386T>C",
"hgvs_p": "p.Val129Ala",
"transcript": "ENST00000858532.1",
"protein_id": "ENSP00000528591.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 308,
"cds_start": 386,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858532.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.386T>C",
"hgvs_p": "p.Val129Ala",
"transcript": "ENST00000858531.1",
"protein_id": "ENSP00000528590.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 299,
"cds_start": 386,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858531.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Val75Ala",
"transcript": "ENST00000953815.1",
"protein_id": "ENSP00000623874.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 268,
"cds_start": 224,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953815.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.185T>C",
"hgvs_p": "p.Val62Ala",
"transcript": "NM_001278784.2",
"protein_id": "NP_001265713.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 255,
"cds_start": 185,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278784.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.395T>C",
"hgvs_p": "p.Val132Ala",
"transcript": "ENST00000508520.5",
"protein_id": "ENSP00000424367.1",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 253,
"cds_start": 395,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508520.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.488T>C",
"hgvs_p": "p.Val163Ala",
"transcript": "ENST00000515850.6",
"protein_id": "ENSP00000427689.3",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 247,
"cds_start": 488,
"cds_end": null,
"cds_length": 746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515850.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.185T>C",
"hgvs_p": "p.Val62Ala",
"transcript": "ENST00000503334.5",
"protein_id": "ENSP00000423323.1",
"transcript_support_level": 3,
"aa_start": 62,
"aa_end": null,
"aa_length": 226,
"cds_start": 185,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503334.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.293T>C",
"hgvs_p": "p.Val98Ala",
"transcript": "ENST00000514907.5",
"protein_id": "ENSP00000426961.1",
"transcript_support_level": 5,
"aa_start": 98,
"aa_end": null,
"aa_length": 186,
"cds_start": 293,
"cds_end": null,
"cds_length": 562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514907.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.257T>C",
"hgvs_p": "p.Val86Ala",
"transcript": "ENST00000511763.6",
"protein_id": "ENSP00000422104.3",
"transcript_support_level": 3,
"aa_start": 86,
"aa_end": null,
"aa_length": 157,
"cds_start": 257,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511763.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.185T>C",
"hgvs_p": "p.Val62Ala",
"transcript": "ENST00000511657.1",
"protein_id": "ENSP00000426402.1",
"transcript_support_level": 3,
"aa_start": 62,
"aa_end": null,
"aa_length": 75,
"cds_start": 185,
"cds_end": null,
"cds_length": 229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511657.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Val200Ala",
"transcript": "XM_006721632.4",
"protein_id": "XP_006721695.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 393,
"cds_start": 599,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721632.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.368T>C",
"hgvs_p": "p.Val123Ala",
"transcript": "XM_011524179.3",
"protein_id": "XP_011522481.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 316,
"cds_start": 368,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524179.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.185T>C",
"hgvs_p": "p.Val62Ala",
"transcript": "XM_011524180.3",
"protein_id": "XP_011522482.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 255,
"cds_start": 185,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011524180.3"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "c.58+2510T>C",
"hgvs_p": null,
"transcript": "ENST00000940146.1",
"protein_id": "ENSP00000610205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 36,
"cds_start": null,
"cds_end": null,
"cds_length": 111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940146.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "n.473T>C",
"hgvs_p": null,
"transcript": "ENST00000435059.6",
"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": "ENST00000435059.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "n.*36T>C",
"hgvs_p": null,
"transcript": "ENST00000502268.5",
"protein_id": "ENSP00000424857.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000502268.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
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"transcript": "ENST00000502406.5",
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"aa_end": null,
"aa_length": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000502406.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
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"hgvs_c": "n.1577T>C",
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"transcript": "ENST00000504260.5",
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"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000504260.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
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"hgvs_c": "n.361T>C",
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"transcript": "ENST00000507773.6",
"protein_id": "ENSP00000425179.3",
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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": "nonsense_mediated_decay",
"feature": "ENST00000507773.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
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"hgvs_c": "n.199T>C",
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"transcript": "ENST00000508926.1",
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"aa_end": null,
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"cds_end": null,
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"biotype": "retained_intron",
"feature": "ENST00000508926.1"
},
{
"aa_ref": null,
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"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": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "n.100T>C",
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"transcript": "ENST00000513508.1",
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"transcript_support_level": 2,
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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,
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"biotype": "retained_intron",
"feature": "ENST00000513508.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"hgvs_c": "n.*36T>C",
"hgvs_p": null,
"transcript": "ENST00000502268.5",
"protein_id": "ENSP00000424857.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000502268.5"
}
],
"gene_symbol": "SLC35B1",
"gene_hgnc_id": 20798,
"dbsnp": "rs981626653",
"frequency_reference_population": 0.000005472458,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000547246,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.775519609451294,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.545,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6644,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.965,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005827.4",
"gene_symbol": "SLC35B1",
"hgnc_id": 20798,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.386T>C",
"hgvs_p": "p.Val129Ala"
}
],
"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
}