← 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: 22-30557308-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30557308&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GAL3ST1",
"hgnc_id": 24240,
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001318107.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 497724,
"alphamissense_prediction": null,
"alphamissense_score": 0.1216,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "22",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.004895657300949097,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1909,
"cdna_start": 404,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001318104.2",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000406361.6",
"protein_coding": true,
"protein_id": "NP_001305033.1",
"strand": false,
"transcript": "NM_001318104.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1909,
"cdna_start": 404,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000406361.6",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001318104.2",
"protein_coding": true,
"protein_id": "ENSP00000385207.1",
"strand": false,
"transcript": "ENST00000406361.6",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 279,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000338911.6",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343234.5",
"strand": false,
"transcript": "ENST00000338911.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1791,
"cdna_start": 288,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000401975.5",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384388.1",
"strand": false,
"transcript": "ENST00000401975.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1635,
"cdna_start": 130,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000406955.5",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385825.1",
"strand": false,
"transcript": "ENST00000406955.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 241,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 882,
"cdna_start": 240,
"cds_end": null,
"cds_length": 727,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000452827.5",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405017.1",
"strand": false,
"transcript": "ENST00000452827.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 142,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 584,
"cdna_start": 238,
"cds_end": null,
"cds_length": 431,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000443136.5",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405381.1",
"strand": false,
"transcript": "ENST00000443136.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 99,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 639,
"cdna_start": 423,
"cds_end": null,
"cds_length": 301,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000453479.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398380.1",
"strand": false,
"transcript": "ENST00000453479.1",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 424,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1892,
"cdna_start": 384,
"cds_end": null,
"cds_length": 1275,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001318107.2",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305036.1",
"strand": false,
"transcript": "NM_001318107.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 424,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1638,
"cdna_start": 130,
"cds_end": null,
"cds_length": 1275,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001318114.2",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305043.1",
"strand": false,
"transcript": "NM_001318114.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 424,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 330,
"cds_end": null,
"cds_length": 1275,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903689.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573748.1",
"strand": false,
"transcript": "ENST00000903689.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 424,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1682,
"cdna_start": 171,
"cds_end": null,
"cds_length": 1275,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000903696.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573755.1",
"strand": false,
"transcript": "ENST00000903696.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 424,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": 381,
"cds_end": null,
"cds_length": 1275,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000970811.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640869.1",
"strand": false,
"transcript": "ENST00000970811.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 294,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001318103.2",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305032.1",
"strand": false,
"transcript": "NM_001318103.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1779,
"cdna_start": 274,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001318105.2",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305034.1",
"strand": false,
"transcript": "NM_001318105.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1904,
"cdna_start": 399,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001318106.2",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305035.1",
"strand": false,
"transcript": "NM_001318106.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1889,
"cdna_start": 384,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001318108.2",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305037.1",
"strand": false,
"transcript": "NM_001318108.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1663,
"cdna_start": 158,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001318109.2",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305038.2",
"strand": false,
"transcript": "NM_001318109.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1786,
"cdna_start": 281,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001318110.2",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305039.1",
"strand": false,
"transcript": "NM_001318110.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1676,
"cdna_start": 171,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001318111.2",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305040.1",
"strand": false,
"transcript": "NM_001318111.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1635,
"cdna_start": 130,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001318112.2",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305041.1",
"strand": false,
"transcript": "NM_001318112.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1745,
"cdna_start": 240,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001318113.2",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305042.1",
"strand": false,
"transcript": "NM_001318113.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1764,
"cdna_start": 259,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001318115.2",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305044.1",
"strand": false,
"transcript": "NM_001318115.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1887,
"cdna_start": 382,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318116.2",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305045.1",
"strand": false,
"transcript": "NM_001318116.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1805,
"cdna_start": 300,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_004861.3",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004852.1",
"strand": false,
"transcript": "NM_004861.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1908,
"cdna_start": 403,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000402321.5",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385735.1",
"strand": false,
"transcript": "ENST00000402321.5",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1712,
"cdna_start": 207,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000402369.5",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384122.1",
"strand": false,
"transcript": "ENST00000402369.5",
"transcript_support_level": 3
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 390,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000903682.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573741.1",
"strand": false,
"transcript": "ENST00000903682.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1821,
"cdna_start": 319,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903683.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573742.1",
"strand": false,
"transcript": "ENST00000903683.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1855,
"cdna_start": 350,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903684.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573743.1",
"strand": false,
"transcript": "ENST00000903684.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2010,
"cdna_start": 529,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903685.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573744.1",
"strand": false,
"transcript": "ENST00000903685.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": 349,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903686.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573745.1",
"strand": false,
"transcript": "ENST00000903686.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": 471,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903687.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573746.1",
"strand": false,
"transcript": "ENST00000903687.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1869,
"cdna_start": 366,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000903688.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573747.1",
"strand": false,
"transcript": "ENST00000903688.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1711,
"cdna_start": 208,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903690.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573749.1",
"strand": false,
"transcript": "ENST00000903690.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2156,
"cdna_start": 654,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903691.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573750.1",
"strand": false,
"transcript": "ENST00000903691.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1845,
"cdna_start": 343,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903692.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573751.1",
"strand": false,
"transcript": "ENST00000903692.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1777,
"cdna_start": 275,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903693.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573752.1",
"strand": false,
"transcript": "ENST00000903693.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 452,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000903694.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573753.1",
"strand": false,
"transcript": "ENST00000903694.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1958,
"cdna_start": 456,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000903695.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573754.1",
"strand": false,
"transcript": "ENST00000903695.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 220,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903697.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573756.1",
"strand": false,
"transcript": "ENST00000903697.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2907,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903698.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573757.1",
"strand": false,
"transcript": "ENST00000903698.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2287,
"cdna_start": 782,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000903699.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573758.1",
"strand": false,
"transcript": "ENST00000903699.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2106,
"cdna_start": 601,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911496.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581555.1",
"strand": false,
"transcript": "ENST00000911496.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1980,
"cdna_start": 475,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911497.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581556.1",
"strand": false,
"transcript": "ENST00000911497.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1996,
"cdna_start": 500,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000970795.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640854.1",
"strand": false,
"transcript": "ENST00000970795.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": 379,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000970797.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640856.1",
"strand": false,
"transcript": "ENST00000970797.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1930,
"cdna_start": 429,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000970799.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640860.1",
"strand": false,
"transcript": "ENST00000970799.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1985,
"cdna_start": 492,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000970803.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640863.1",
"strand": false,
"transcript": "ENST00000970803.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1883,
"cdna_start": 421,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000970806.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640865.1",
"strand": false,
"transcript": "ENST00000970806.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 423,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1908,
"cdna_start": 403,
"cds_end": null,
"cds_length": 1272,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000970808.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640868.1",
"strand": false,
"transcript": "ENST00000970808.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 278,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 894,
"cdna_start": 142,
"cds_end": null,
"cds_length": 837,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000441967.5",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390545.1",
"strand": false,
"transcript": "ENST00000441967.5",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 264,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 851,
"cdna_start": 140,
"cds_end": null,
"cds_length": 796,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000431313.5",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395080.1",
"strand": false,
"transcript": "ENST00000431313.5",
"transcript_support_level": 3
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 198,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 755,
"cdna_start": 242,
"cds_end": null,
"cds_length": 598,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000437282.5",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401426.1",
"strand": false,
"transcript": "ENST00000437282.5",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 169,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": 156,
"cds_end": null,
"cds_length": 511,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000416358.5",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391485.1",
"strand": false,
"transcript": "ENST00000416358.5",
"transcript_support_level": 3
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 162,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 533,
"cdna_start": 127,
"cds_end": null,
"cds_length": 491,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000427899.5",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397092.1",
"strand": false,
"transcript": "ENST00000427899.5",
"transcript_support_level": 4
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 148,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 656,
"cdna_start": 294,
"cds_end": null,
"cds_length": 447,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000423299.5",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391996.1",
"strand": false,
"transcript": "ENST00000423299.5",
"transcript_support_level": 4
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 111,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 639,
"cdna_start": 386,
"cds_end": null,
"cds_length": 338,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000423371.5",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000401074.1",
"strand": false,
"transcript": "ENST00000423371.5",
"transcript_support_level": 4
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 101,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 553,
"cdna_start": 330,
"cds_end": null,
"cds_length": 308,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000428682.5",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389876.1",
"strand": false,
"transcript": "ENST00000428682.5",
"transcript_support_level": 4
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 97,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 563,
"cdna_start": 352,
"cds_end": null,
"cds_length": 296,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000426220.5",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414542.1",
"strand": false,
"transcript": "ENST00000426220.5",
"transcript_support_level": 4
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 94,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 567,
"cdna_start": 365,
"cds_end": null,
"cds_length": 287,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000447224.5",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412995.1",
"strand": false,
"transcript": "ENST00000447224.5",
"transcript_support_level": 4
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 84,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 572,
"cdna_start": 402,
"cds_end": null,
"cds_length": 255,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000411821.5",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394912.1",
"strand": false,
"transcript": "ENST00000411821.5",
"transcript_support_level": 4
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 74,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 567,
"cdna_start": 425,
"cds_end": null,
"cds_length": 227,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000445645.5",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399649.1",
"strand": false,
"transcript": "ENST00000445645.5",
"transcript_support_level": 4
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 70,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 575,
"cdna_start": 445,
"cds_end": null,
"cds_length": 215,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000448604.1",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390068.1",
"strand": false,
"transcript": "ENST00000448604.1",
"transcript_support_level": 4
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 449,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": 161,
"cds_end": null,
"cds_length": 1350,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011530518.3",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528820.2",
"strand": false,
"transcript": "XM_011530518.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 424,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 274,
"cds_end": null,
"cds_length": 1275,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011530522.3",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528824.1",
"strand": false,
"transcript": "XM_011530522.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 424,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 223,
"cds_end": null,
"cds_length": 1275,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011530528.2",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011528830.1",
"strand": false,
"transcript": "XM_011530528.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 424,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1679,
"cdna_start": 171,
"cds_end": null,
"cds_length": 1275,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017029096.2",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884585.1",
"strand": false,
"transcript": "XM_017029096.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 424,
"aa_ref": "V",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 219,
"cds_end": null,
"cds_length": 1275,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017029097.2",
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Val29Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016884586.1",
"strand": false,
"transcript": "XM_017029097.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2267161",
"effect": "missense_variant",
"frequency_reference_population": 0.30845717,
"gene_hgnc_id": 24240,
"gene_symbol": "GAL3ST1",
"gnomad_exomes_ac": 448410,
"gnomad_exomes_af": 0.306828,
"gnomad_exomes_homalt": 70076,
"gnomad_genomes_ac": 49314,
"gnomad_genomes_af": 0.324102,
"gnomad_genomes_homalt": 8059,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 78135,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.525,
"pos": 30557308,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.034,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001318107.2"
}
]
}