← Back to variant description
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: 12-57628145-GCACGTC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57628145&ref=GCACGTC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57628145,
"ref": "GCACGTC",
"alt": "G",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000341156.9",
"consequences": [
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1114_1119delGACGTG",
"hgvs_p": "p.Asp372_Val373del",
"transcript": "NM_001478.5",
"protein_id": "NP_001469.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 533,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 5368,
"mane_select": "ENST00000341156.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1114_1119delGACGTG",
"hgvs_p": "p.Asp372_Val373del",
"transcript": "ENST00000341156.9",
"protein_id": "ENSP00000341562.4",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 533,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 5368,
"mane_select": "NM_001478.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1249_1254delGACGTG",
"hgvs_p": "p.Asp417_Val418del",
"transcript": "NM_001413967.1",
"protein_id": "NP_001400896.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 589,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 5536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1249_1254delGACGTG",
"hgvs_p": "p.Asp417_Val418del",
"transcript": "NM_001413968.1",
"protein_id": "NP_001400897.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 578,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 5503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1249_1254delGACGTG",
"hgvs_p": "p.Asp417_Val418del",
"transcript": "NM_001413969.1",
"protein_id": "NP_001400898.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 578,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 5212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1114_1119delGACGTG",
"hgvs_p": "p.Asp372_Val373del",
"transcript": "NM_001413970.1",
"protein_id": "NP_001400899.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 544,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 5401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1114_1119delGACGTG",
"hgvs_p": "p.Asp372_Val373del",
"transcript": "NM_001413971.1",
"protein_id": "NP_001400900.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 544,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 5442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1114_1119delGACGTG",
"hgvs_p": "p.Asp372_Val373del",
"transcript": "NM_001413972.1",
"protein_id": "NP_001400901.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 544,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 5110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1114_1119delGACGTG",
"hgvs_p": "p.Asp372_Val373del",
"transcript": "NM_001413973.1",
"protein_id": "NP_001400902.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 533,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1591,
"cdna_end": null,
"cdna_length": 5409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1114_1119delGACGTG",
"hgvs_p": "p.Asp372_Val373del",
"transcript": "NM_001413974.1",
"protein_id": "NP_001400903.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 533,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 5077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1015_1020delGACGTG",
"hgvs_p": "p.Asp339_Val340del",
"transcript": "NM_001413977.1",
"protein_id": "NP_001400906.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 500,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 5269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.949_954delGACGTG",
"hgvs_p": "p.Asp317_Val318del",
"transcript": "NM_001276468.2",
"protein_id": "NP_001263397.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 478,
"cds_start": 949,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 4912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.949_954delGACGTG",
"hgvs_p": "p.Asp317_Val318del",
"transcript": "NM_001413978.1",
"protein_id": "NP_001400907.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 478,
"cds_start": 949,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 5203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.949_954delGACGTG",
"hgvs_p": "p.Asp317_Val318del",
"transcript": "ENST00000418555.6",
"protein_id": "ENSP00000401601.2",
"transcript_support_level": 2,
"aa_start": 317,
"aa_end": null,
"aa_length": 478,
"cds_start": 949,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.262_267delGACGTG",
"hgvs_p": "p.Asp88_Val89del",
"transcript": "NM_001413981.1",
"protein_id": "NP_001400910.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 249,
"cds_start": 262,
"cds_end": null,
"cds_length": 750,
"cdna_start": 1601,
"cdna_end": null,
"cdna_length": 5419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.127_132delGACGTG",
"hgvs_p": "p.Asp43_Val44del",
"transcript": "NM_001413982.1",
"protein_id": "NP_001400911.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 215,
"cds_start": 127,
"cds_end": null,
"cds_length": 648,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 5317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.127_132delGACGTG",
"hgvs_p": "p.Asp43_Val44del",
"transcript": "NM_001413983.1",
"protein_id": "NP_001400912.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 204,
"cds_start": 127,
"cds_end": null,
"cds_length": 615,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 5325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.127_132delGACGTG",
"hgvs_p": "p.Asp43_Val44del",
"transcript": "NM_001413984.1",
"protein_id": "NP_001400913.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 204,
"cds_start": 127,
"cds_end": null,
"cds_length": 615,
"cdna_start": 1466,
"cdna_end": null,
"cdna_length": 5284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.127_132delGACGTG",
"hgvs_p": "p.Asp43_Val44del",
"transcript": "ENST00000547741.1",
"protein_id": "ENSP00000448577.1",
"transcript_support_level": 4,
"aa_start": 43,
"aa_end": null,
"aa_length": 149,
"cds_start": 127,
"cds_end": null,
"cds_length": 451,
"cdna_start": 134,
"cdna_end": null,
"cdna_length": 453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1480_1485delGACGTG",
"hgvs_p": "p.Asp494_Val495del",
"transcript": "XM_047428680.1",
"protein_id": "XP_047284636.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 655,
"cds_start": 1480,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 5438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1363_1368delGACGTG",
"hgvs_p": "p.Asp455_Val456del",
"transcript": "XM_011538147.4",
"protein_id": "XP_011536449.2",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 627,
"cds_start": 1363,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 5355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1345_1350delGACGTG",
"hgvs_p": "p.Asp449_Val450del",
"transcript": "XM_005268773.6",
"protein_id": "XP_005268830.2",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 621,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 5334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1363_1368delGACGTG",
"hgvs_p": "p.Asp455_Val456del",
"transcript": "XM_024448928.2",
"protein_id": "XP_024304696.2",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 616,
"cds_start": 1363,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 5321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1345_1350delGACGTG",
"hgvs_p": "p.Asp449_Val450del",
"transcript": "XM_047428681.1",
"protein_id": "XP_047284637.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 610,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 5300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DV",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1498_1503delGACGTG",
"hgvs_p": "p.Asp500_Val501del",
"transcript": "XM_047428682.1",
"protein_id": "XP_047284638.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 577,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "n.1215_1220delGACGTG",
"hgvs_p": null,
"transcript": "ENST00000552468.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "n.*377_*382delGACGTG",
"hgvs_p": null,
"transcript": "ENST00000552798.5",
"protein_id": "ENSP00000447076.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "n.1495_1500delGACGTG",
"hgvs_p": null,
"transcript": "ENST00000553142.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "n.*377_*382delGACGTG",
"hgvs_p": null,
"transcript": "ENST00000552798.5",
"protein_id": "ENSP00000447076.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "n.*512_*517delGACGTG",
"hgvs_p": null,
"transcript": "ENST00000549391.5",
"protein_id": "ENSP00000447750.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"dbsnp": "rs771698791",
"frequency_reference_population": 0.0000013682829,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136828,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.79,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4,PP3",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM4",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000341156.9",
"gene_symbol": "B4GALNT1",
"hgnc_id": 4117,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1114_1119delGACGTG",
"hgvs_p": "p.Asp372_Val373del"
}
],
"clinvar_disease": "Spastic paraplegia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Spastic paraplegia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}