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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: 12-57627704-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57627704&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57627704,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000341156.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"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": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1298A>C",
"hgvs_p": "p.Asp433Ala",
"transcript": "NM_001478.5",
"protein_id": "NP_001469.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 533,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 5368,
"mane_select": "ENST00000341156.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"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": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1298A>C",
"hgvs_p": "p.Asp433Ala",
"transcript": "ENST00000341156.9",
"protein_id": "ENSP00000341562.4",
"transcript_support_level": 1,
"aa_start": 433,
"aa_end": null,
"aa_length": 533,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 5368,
"mane_select": "NM_001478.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1466A>C",
"hgvs_p": "p.Asp489Ala",
"transcript": "NM_001413967.1",
"protein_id": "NP_001400896.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 589,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 5536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1433A>C",
"hgvs_p": "p.Asp478Ala",
"transcript": "NM_001413968.1",
"protein_id": "NP_001400897.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 578,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1864,
"cdna_end": null,
"cdna_length": 5503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1433A>C",
"hgvs_p": "p.Asp478Ala",
"transcript": "NM_001413969.1",
"protein_id": "NP_001400898.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 578,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1573,
"cdna_end": null,
"cdna_length": 5212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1331A>C",
"hgvs_p": "p.Asp444Ala",
"transcript": "NM_001413970.1",
"protein_id": "NP_001400899.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 544,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1762,
"cdna_end": null,
"cdna_length": 5401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1331A>C",
"hgvs_p": "p.Asp444Ala",
"transcript": "NM_001413971.1",
"protein_id": "NP_001400900.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 544,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1803,
"cdna_end": null,
"cdna_length": 5442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1331A>C",
"hgvs_p": "p.Asp444Ala",
"transcript": "NM_001413972.1",
"protein_id": "NP_001400901.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 544,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 5110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1298A>C",
"hgvs_p": "p.Asp433Ala",
"transcript": "NM_001413973.1",
"protein_id": "NP_001400902.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 533,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 5409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1298A>C",
"hgvs_p": "p.Asp433Ala",
"transcript": "NM_001413974.1",
"protein_id": "NP_001400903.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 533,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1438,
"cdna_end": null,
"cdna_length": 5077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1199A>C",
"hgvs_p": "p.Asp400Ala",
"transcript": "NM_001413977.1",
"protein_id": "NP_001400906.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 500,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 5269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1133A>C",
"hgvs_p": "p.Asp378Ala",
"transcript": "NM_001276468.2",
"protein_id": "NP_001263397.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 478,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 4912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1133A>C",
"hgvs_p": "p.Asp378Ala",
"transcript": "NM_001413978.1",
"protein_id": "NP_001400907.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 478,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 5203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1133A>C",
"hgvs_p": "p.Asp378Ala",
"transcript": "ENST00000418555.6",
"protein_id": "ENSP00000401601.2",
"transcript_support_level": 2,
"aa_start": 378,
"aa_end": null,
"aa_length": 478,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1241,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.446A>C",
"hgvs_p": "p.Asp149Ala",
"transcript": "NM_001413981.1",
"protein_id": "NP_001400910.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 249,
"cds_start": 446,
"cds_end": null,
"cds_length": 750,
"cdna_start": 1780,
"cdna_end": null,
"cdna_length": 5419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.344A>C",
"hgvs_p": "p.Asp115Ala",
"transcript": "NM_001413982.1",
"protein_id": "NP_001400911.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 215,
"cds_start": 344,
"cds_end": null,
"cds_length": 648,
"cdna_start": 1678,
"cdna_end": null,
"cdna_length": 5317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.311A>C",
"hgvs_p": "p.Asp104Ala",
"transcript": "NM_001413983.1",
"protein_id": "NP_001400912.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 204,
"cds_start": 311,
"cds_end": null,
"cds_length": 615,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 5325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.311A>C",
"hgvs_p": "p.Asp104Ala",
"transcript": "NM_001413984.1",
"protein_id": "NP_001400913.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 204,
"cds_start": 311,
"cds_end": null,
"cds_length": 615,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 5284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.344A>C",
"hgvs_p": "p.Asp115Ala",
"transcript": "ENST00000547741.1",
"protein_id": "ENSP00000448577.1",
"transcript_support_level": 4,
"aa_start": 115,
"aa_end": null,
"aa_length": 149,
"cds_start": 344,
"cds_end": null,
"cds_length": 451,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1664A>C",
"hgvs_p": "p.Asp555Ala",
"transcript": "XM_047428680.1",
"protein_id": "XP_047284636.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 655,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 5438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1580A>C",
"hgvs_p": "p.Asp527Ala",
"transcript": "XM_011538147.4",
"protein_id": "XP_011536449.2",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 627,
"cds_start": 1580,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 5355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1562A>C",
"hgvs_p": "p.Asp521Ala",
"transcript": "XM_005268773.6",
"protein_id": "XP_005268830.2",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 621,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1695,
"cdna_end": null,
"cdna_length": 5334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"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": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1547A>C",
"hgvs_p": "p.Asp516Ala",
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{
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},
{
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],
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},
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},
{
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},
{
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],
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},
{
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],
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"gene_symbol": "B4GALNT1",
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}
],
"gene_symbol": "B4GALNT1",
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"dbsnp": "rs879255242",
"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": 0.8149094581604004,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.486,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9243,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.686,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5",
"acmg_by_gene": [
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000341156.9",
"gene_symbol": "B4GALNT1",
"hgnc_id": 4117,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1298A>C",
"hgvs_p": "p.Asp433Ala"
}
],
"clinvar_disease": "Hereditary spastic paraplegia 26",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Hereditary spastic paraplegia 26",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}