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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: 3-52290406-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52290406&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GLYCTK",
"hgnc_id": 24247,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_145262.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GLYCTK-AS1",
"hgnc_id": 41043,
"hgvs_c": "n.501-1682G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000493616.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.0983,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.06985944509506226,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3791,
"cdna_start": 152,
"cds_end": null,
"cds_length": 1572,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_145262.4",
"gene_hgnc_id": 24247,
"gene_symbol": "GLYCTK",
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000436784.7",
"protein_coding": true,
"protein_id": "NP_660305.2",
"strand": true,
"transcript": "NM_145262.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3791,
"cdna_start": 152,
"cds_end": null,
"cds_length": 1572,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000436784.7",
"gene_hgnc_id": 24247,
"gene_symbol": "GLYCTK",
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145262.4",
"protein_coding": true,
"protein_id": "ENSP00000389175.2",
"strand": true,
"transcript": "ENST00000436784.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 234,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1371,
"cdna_start": 160,
"cds_end": null,
"cds_length": 705,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000477382.2",
"gene_hgnc_id": 24247,
"gene_symbol": "GLYCTK",
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419008.1",
"strand": true,
"transcript": "ENST00000477382.2",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 205,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 935,
"cdna_start": 160,
"cds_end": null,
"cds_length": 618,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000473032.5",
"gene_hgnc_id": 24247,
"gene_symbol": "GLYCTK",
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418951.1",
"strand": true,
"transcript": "ENST00000473032.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1021,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000473583.1",
"gene_hgnc_id": 24247,
"gene_symbol": "GLYCTK",
"hgvs_c": "n.333C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000473583.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000486393.5",
"gene_hgnc_id": 24247,
"gene_symbol": "GLYCTK",
"hgvs_c": "n.64C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000419868.1",
"strand": true,
"transcript": "ENST00000486393.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3980,
"cdna_start": 341,
"cds_end": null,
"cds_length": 1572,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001437621.1",
"gene_hgnc_id": 24247,
"gene_symbol": "GLYCTK",
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424550.1",
"strand": true,
"transcript": "NM_001437621.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3788,
"cdna_start": 144,
"cds_end": null,
"cds_length": 1572,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000863513.1",
"gene_hgnc_id": 24247,
"gene_symbol": "GLYCTK",
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533572.1",
"strand": true,
"transcript": "ENST00000863513.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2054,
"cdna_start": 197,
"cds_end": null,
"cds_length": 1572,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000863514.1",
"gene_hgnc_id": 24247,
"gene_symbol": "GLYCTK",
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533573.1",
"strand": true,
"transcript": "ENST00000863514.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2009,
"cdna_start": 150,
"cds_end": null,
"cds_length": 1572,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000863515.1",
"gene_hgnc_id": 24247,
"gene_symbol": "GLYCTK",
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533574.1",
"strand": true,
"transcript": "ENST00000863515.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4053,
"cdna_start": 398,
"cds_end": null,
"cds_length": 1572,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000863516.1",
"gene_hgnc_id": 24247,
"gene_symbol": "GLYCTK",
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533575.1",
"strand": true,
"transcript": "ENST00000863516.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 523,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": 180,
"cds_end": null,
"cds_length": 1572,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000863517.1",
"gene_hgnc_id": 24247,
"gene_symbol": "GLYCTK",
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533576.1",
"strand": true,
"transcript": "ENST00000863517.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 496,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": 337,
"cds_end": null,
"cds_length": 1491,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000969819.1",
"gene_hgnc_id": 24247,
"gene_symbol": "GLYCTK",
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639878.1",
"strand": true,
"transcript": "ENST00000969819.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 234,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3615,
"cdna_start": 152,
"cds_end": null,
"cds_length": 705,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001144951.2",
"gene_hgnc_id": 24247,
"gene_symbol": "GLYCTK",
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138423.1",
"strand": true,
"transcript": "NM_001144951.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 234,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3804,
"cdna_start": 341,
"cds_end": null,
"cds_length": 705,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001437622.1",
"gene_hgnc_id": 24247,
"gene_symbol": "GLYCTK",
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424551.1",
"strand": true,
"transcript": "NM_001437622.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 367,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3956,
"cdna_start": 2579,
"cds_end": null,
"cds_length": 1104,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047447465.1",
"gene_hgnc_id": 24247,
"gene_symbol": "GLYCTK",
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303421.1",
"strand": true,
"transcript": "XM_047447465.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 367,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1529,
"cdna_start": 152,
"cds_end": null,
"cds_length": 1104,
"cds_start": 64,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047447466.1",
"gene_hgnc_id": 24247,
"gene_symbol": "GLYCTK",
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303422.1",
"strand": true,
"transcript": "XM_047447466.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 283,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 889,
"cdna_start": null,
"cds_end": null,
"cds_length": 852,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000461183.5",
"gene_hgnc_id": 24247,
"gene_symbol": "GLYCTK",
"hgvs_c": "c.126-554C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417264.1",
"strand": true,
"transcript": "ENST00000461183.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 240,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 992,
"cdna_start": null,
"cds_end": null,
"cds_length": 723,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000471180.5",
"gene_hgnc_id": 24247,
"gene_symbol": "GLYCTK",
"hgvs_c": "c.-4-554C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417526.1",
"strand": true,
"transcript": "ENST00000471180.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 396,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3375,
"cdna_start": null,
"cds_end": null,
"cds_length": 1191,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017005730.2",
"gene_hgnc_id": 24247,
"gene_symbol": "GLYCTK",
"hgvs_c": "c.-4-554C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861219.1",
"strand": true,
"transcript": "XM_017005730.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 240,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1113,
"cdna_start": null,
"cds_end": null,
"cds_length": 723,
"cds_start": null,
"consequences": [
"intron_variant"
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