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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: 10-89225168-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=89225168&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LIPA",
"hgnc_id": 6617,
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Leu244Pro",
"inheritance_mode": "AR",
"pathogenic_score": 19,
"score": 19,
"transcript": "NM_001440836.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 19,
"allele_count_reference_population": 31,
"alphamissense_prediction": null,
"alphamissense_score": 0.9115,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.51,
"chr": "10",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Cholesteryl ester storage disease,Lysosomal acid lipase deficiency,Wolman disease",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.990281343460083,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 399,
"aa_ref": "L",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 639,
"cds_end": null,
"cds_length": 1200,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_000235.4",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Leu200Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000336233.10",
"protein_coding": true,
"protein_id": "NP_000226.2",
"strand": false,
"transcript": "NM_000235.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 399,
"aa_ref": "L",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 639,
"cds_end": null,
"cds_length": 1200,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000336233.10",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Leu200Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000235.4",
"protein_coding": true,
"protein_id": "ENSP00000337354.5",
"strand": false,
"transcript": "ENST00000336233.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 289,
"aa_ref": "L",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1055,
"cdna_start": 782,
"cds_end": null,
"cds_length": 872,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000428800.5",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Leu200Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388415.1",
"strand": false,
"transcript": "ENST00000428800.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 443,
"aa_ref": "L",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2703,
"cdna_start": 846,
"cds_end": null,
"cds_length": 1332,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001440836.1",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.731T>C",
"hgvs_p": "p.Leu244Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427765.1",
"strand": false,
"transcript": "NM_001440836.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 406,
"aa_ref": "L",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2517,
"cdna_start": 660,
"cds_end": null,
"cds_length": 1221,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001440837.1",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.620T>C",
"hgvs_p": "p.Leu207Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427766.1",
"strand": false,
"transcript": "NM_001440837.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 406,
"aa_ref": "L",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2570,
"cdna_start": 713,
"cds_end": null,
"cds_length": 1221,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000868683.1",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.620T>C",
"hgvs_p": "p.Leu207Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538742.1",
"strand": false,
"transcript": "ENST00000868683.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 406,
"aa_ref": "L",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2255,
"cdna_start": 716,
"cds_end": null,
"cds_length": 1221,
"cds_start": 620,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000938134.1",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.620T>C",
"hgvs_p": "p.Leu207Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608193.1",
"strand": false,
"transcript": "ENST00000938134.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 404,
"aa_ref": "L",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2586,
"cdna_start": 729,
"cds_end": null,
"cds_length": 1215,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001440838.1",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.614T>C",
"hgvs_p": "p.Leu205Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427767.1",
"strand": false,
"transcript": "NM_001440838.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 404,
"aa_ref": "L",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2528,
"cdna_start": 656,
"cds_end": null,
"cds_length": 1215,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000938131.1",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Leu200Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608190.1",
"strand": false,
"transcript": "ENST00000938131.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 399,
"aa_ref": "L",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": 669,
"cds_end": null,
"cds_length": 1200,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001127605.3",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Leu200Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121077.1",
"strand": false,
"transcript": "NM_001127605.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 399,
"aa_ref": "L",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3035,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1200,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001440818.1",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Leu200Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427747.1",
"strand": false,
"transcript": "NM_001440818.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 399,
"aa_ref": "L",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2726,
"cdna_start": 869,
"cds_end": null,
"cds_length": 1200,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001440819.1",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Leu200Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427748.1",
"strand": false,
"transcript": "NM_001440819.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 399,
"aa_ref": "L",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 1200,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001440820.1",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Leu200Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427749.1",
"strand": false,
"transcript": "NM_001440820.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 399,
"aa_ref": "L",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": 966,
"cds_end": null,
"cds_length": 1200,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001440821.1",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Leu200Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427750.1",
"strand": false,
"transcript": "NM_001440821.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 399,
"aa_ref": "L",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2862,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 1200,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001440822.1",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Leu200Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427751.1",
"strand": false,
"transcript": "NM_001440822.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 399,
"aa_ref": "L",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": 919,
"cds_end": null,
"cds_length": 1200,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001440823.1",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Leu200Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427752.1",
"strand": false,
"transcript": "NM_001440823.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 399,
"aa_ref": "L",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": 986,
"cds_end": null,
"cds_length": 1200,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001440824.1",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Leu200Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427753.1",
"strand": false,
"transcript": "NM_001440824.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 399,
"aa_ref": "L",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2800,
"cdna_start": 943,
"cds_end": null,
"cds_length": 1200,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001440825.1",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Leu200Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427754.1",
"strand": false,
"transcript": "NM_001440825.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 399,
"aa_ref": "L",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2683,
"cdna_start": 826,
"cds_end": null,
"cds_length": 1200,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001440826.1",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Leu200Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427755.1",
"strand": false,
"transcript": "NM_001440826.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 399,
"aa_ref": "L",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2653,
"cdna_start": 796,
"cds_end": null,
"cds_length": 1200,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001440827.1",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Leu200Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427756.1",
"strand": false,
"transcript": "NM_001440827.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 399,
"aa_ref": "L",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2750,
"cdna_start": 893,
"cds_end": null,
"cds_length": 1200,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001440828.1",
"gene_hgnc_id": 6617,
"gene_symbol": "LIPA",
"hgvs_c": "c.599T>C",
"hgvs_p": "p.Leu200Pro",
"intron_rank": null,
"intron_rank_end": null,
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