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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: 3-49131656-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49131656&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LAMB2",
"hgnc_id": 6487,
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_002292.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 38,
"alphamissense_prediction": null,
"alphamissense_score": 0.3325,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.29,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "LAMB2-related infantile-onset nephrotic syndrome,Pierson syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7914936542510986,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1798,
"aa_ref": "R",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5692,
"cdna_start": 710,
"cds_end": null,
"cds_length": 5397,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_002292.4",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000305544.9",
"protein_coding": true,
"protein_id": "NP_002283.3",
"strand": false,
"transcript": "NM_002292.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1798,
"aa_ref": "R",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5692,
"cdna_start": 710,
"cds_end": null,
"cds_length": 5397,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000305544.9",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002292.4",
"protein_coding": true,
"protein_id": "ENSP00000307156.4",
"strand": false,
"transcript": "ENST00000305544.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1798,
"aa_ref": "R",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5674,
"cdna_start": 692,
"cds_end": null,
"cds_length": 5397,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000418109.5",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388325.1",
"strand": false,
"transcript": "ENST00000418109.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1812,
"aa_ref": "R",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5728,
"cdna_start": 703,
"cds_end": null,
"cds_length": 5439,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960189.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630248.1",
"strand": false,
"transcript": "ENST00000960189.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1812,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5683,
"cdna_start": 704,
"cds_end": null,
"cds_length": 5439,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960202.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630261.1",
"strand": false,
"transcript": "ENST00000960202.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1807,
"aa_ref": "R",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5694,
"cdna_start": 685,
"cds_end": null,
"cds_length": 5424,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960193.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630252.1",
"strand": false,
"transcript": "ENST00000960193.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1802,
"aa_ref": "R",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5684,
"cdna_start": 690,
"cds_end": null,
"cds_length": 5409,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000884814.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554873.1",
"strand": false,
"transcript": "ENST00000884814.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1800,
"aa_ref": "R",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5675,
"cdna_start": 688,
"cds_end": null,
"cds_length": 5403,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960192.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630251.1",
"strand": false,
"transcript": "ENST00000960192.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1797,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5661,
"cdna_start": 682,
"cds_end": null,
"cds_length": 5394,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960197.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630256.1",
"strand": false,
"transcript": "ENST00000960197.1",
"transcript_support_level": null
},
{
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"aa_length": 1796,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5693,
"cdna_start": 716,
"cds_end": null,
"cds_length": 5391,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000884810.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554869.1",
"strand": false,
"transcript": "ENST00000884810.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5682,
"cdna_start": 700,
"cds_end": null,
"cds_length": 5388,
"cds_start": 518,
"consequences": [
"missense_variant"
],
"exon_count": 32,
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"feature": "ENST00000921218.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591277.1",
"strand": false,
"transcript": "ENST00000921218.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 5681,
"cdna_start": 709,
"cds_end": null,
"cds_length": 5388,
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"consequences": [
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],
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"feature": "ENST00000960188.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000630247.1",
"strand": false,
"transcript": "ENST00000960188.1",
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},
{
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"consequences": [
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],
"exon_count": 32,
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"feature": "ENST00000960187.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630246.1",
"strand": false,
"transcript": "ENST00000960187.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5599,
"cdna_start": 684,
"cds_end": null,
"cds_length": 5331,
"cds_start": 527,
"consequences": [
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],
"exon_count": 32,
"exon_rank": 5,
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"feature": "ENST00000960195.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000630254.1",
"strand": false,
"transcript": "ENST00000960195.1",
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},
{
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"cds_end": null,
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"cds_start": 527,
"consequences": [
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],
"exon_count": 32,
"exon_rank": 5,
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"feature": "ENST00000960203.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630262.1",
"strand": false,
"transcript": "ENST00000960203.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5568,
"cdna_start": 680,
"cds_end": null,
"cds_length": 5304,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960199.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630258.1",
"strand": false,
"transcript": "ENST00000960199.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 32,
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"feature": "ENST00000960186.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
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"protein_coding": true,
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"strand": false,
"transcript": "ENST00000960186.1",
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},
{
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"consequences": [
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],
"exon_count": 32,
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"feature": "ENST00000884809.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.527G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000554868.1",
"strand": false,
"transcript": "ENST00000884809.1",
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},
{
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 32,
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"feature": "ENST00000960191.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630250.1",
"strand": false,
"transcript": "ENST00000960191.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5527,
"cdna_start": 689,
"cds_end": null,
"cds_length": 5253,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000884815.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.527G>A",
"hgvs_p": "p.Arg176Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554874.1",
"strand": false,
"transcript": "ENST00000884815.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5533,
"cdna_start": 710,
"cds_end": null,
"cds_length": 5238,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960185.1",
"gene_hgnc_id": 6487,
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