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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: 3-161085944-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=161085944&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "B3GALNT1",
"hgnc_id": 918,
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Gly391Arg",
"inheritance_mode": "BG",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001349162.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 95,
"alphamissense_prediction": null,
"alphamissense_score": 0.9932,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.32,
"chr": "3",
"clinvar_classification": "Affects",
"clinvar_disease": "p phenotype",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9910471439361572,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 331,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3295,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 996,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_003781.4",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000320474.10",
"protein_coding": true,
"protein_id": "NP_003772.1",
"strand": false,
"transcript": "NM_003781.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 331,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3295,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 996,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000320474.10",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003781.4",
"protein_coding": true,
"protein_id": "ENSP00000323479.4",
"strand": false,
"transcript": "ENST00000320474.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 331,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3620,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 996,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000392781.7",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376532.2",
"strand": false,
"transcript": "ENST00000392781.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 331,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1660,
"cdna_start": 1475,
"cds_end": null,
"cds_length": 996,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000488170.5",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420163.1",
"strand": false,
"transcript": "ENST00000488170.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 451,
"aa_ref": "G",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3861,
"cdna_start": 1800,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1171,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001349162.2",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Gly391Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336091.1",
"strand": false,
"transcript": "NM_001349162.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 451,
"aa_ref": "G",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3411,
"cdna_start": 1350,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1171,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001349163.2",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
"hgvs_c": "c.1171G>A",
"hgvs_p": "p.Gly391Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336092.1",
"strand": false,
"transcript": "NM_001349163.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 331,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3618,
"cdna_start": 1557,
"cds_end": null,
"cds_length": 996,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001038628.2",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001033717.1",
"strand": false,
"transcript": "NM_001038628.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 331,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3551,
"cdna_start": 1490,
"cds_end": null,
"cds_length": 996,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001349130.2",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336059.1",
"strand": false,
"transcript": "NM_001349130.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 331,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3644,
"cdna_start": 1583,
"cds_end": null,
"cds_length": 996,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001349131.2",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336060.1",
"strand": false,
"transcript": "NM_001349131.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 331,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3499,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 996,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001349132.2",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336061.1",
"strand": false,
"transcript": "NM_001349132.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 331,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3393,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 996,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001349133.2",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336062.1",
"strand": false,
"transcript": "NM_001349133.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 331,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3292,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 996,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001349134.2",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336063.1",
"strand": false,
"transcript": "NM_001349134.2",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3388,
"cdna_start": 1327,
"cds_end": null,
"cds_length": 996,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001349135.2",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336064.1",
"strand": false,
"transcript": "NM_001349135.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 331,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3293,
"cdna_start": 1232,
"cds_end": null,
"cds_length": 996,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001349136.2",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336065.1",
"strand": false,
"transcript": "NM_001349136.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 331,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3525,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 996,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001349137.2",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336066.1",
"strand": false,
"transcript": "NM_001349137.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 331,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3403,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 996,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001349138.2",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336067.1",
"strand": false,
"transcript": "NM_001349138.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 331,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3554,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 996,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001349139.2",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336068.1",
"strand": false,
"transcript": "NM_001349139.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 331,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 996,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001349140.2",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336069.1",
"strand": false,
"transcript": "NM_001349140.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 331,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3319,
"cdna_start": 1258,
"cds_end": null,
"cds_length": 996,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001349141.2",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336070.1",
"strand": false,
"transcript": "NM_001349141.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 331,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3197,
"cdna_start": 1136,
"cds_end": null,
"cds_length": 996,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001349142.2",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336071.1",
"strand": false,
"transcript": "NM_001349142.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 331,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3647,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 996,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001349143.2",
"gene_hgnc_id": 918,
"gene_symbol": "B3GALNT1",
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]
}