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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: 3-49123571-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49123571&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "LAMB2",
"hgnc_id": 6487,
"hgvs_c": "c.3858G>T",
"hgvs_p": "p.Val1286Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_002292.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 7588,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "3",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "LAMB2-related infantile-onset nephrotic syndrome,Pierson syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.47999998927116394,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1798,
"aa_ref": "V",
"aa_start": 1286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5692,
"cdna_start": 4041,
"cds_end": null,
"cds_length": 5397,
"cds_start": 3858,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_002292.4",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.3858G>T",
"hgvs_p": "p.Val1286Val",
"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": "V",
"aa_end": null,
"aa_length": 1798,
"aa_ref": "V",
"aa_start": 1286,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5692,
"cdna_start": 4041,
"cds_end": null,
"cds_length": 5397,
"cds_start": 3858,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000305544.9",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.3858G>T",
"hgvs_p": "p.Val1286Val",
"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": "V",
"aa_end": null,
"aa_length": 1798,
"aa_ref": "V",
"aa_start": 1286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5674,
"cdna_start": 4023,
"cds_end": null,
"cds_length": 5397,
"cds_start": 3858,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000418109.5",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.3858G>T",
"hgvs_p": "p.Val1286Val",
"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": "V",
"aa_end": null,
"aa_length": 1812,
"aa_ref": "V",
"aa_start": 1300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5728,
"cdna_start": 4076,
"cds_end": null,
"cds_length": 5439,
"cds_start": 3900,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000960189.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.3900G>T",
"hgvs_p": "p.Val1300Val",
"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": "V",
"aa_end": null,
"aa_length": 1812,
"aa_ref": "V",
"aa_start": 1300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5683,
"cdna_start": 4035,
"cds_end": null,
"cds_length": 5439,
"cds_start": 3900,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000960202.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.3900G>T",
"hgvs_p": "p.Val1300Val",
"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": "V",
"aa_end": null,
"aa_length": 1807,
"aa_ref": "V",
"aa_start": 1286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5694,
"cdna_start": 4016,
"cds_end": null,
"cds_length": 5424,
"cds_start": 3858,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000960193.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.3858G>T",
"hgvs_p": "p.Val1286Val",
"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": "V",
"aa_end": null,
"aa_length": 1802,
"aa_ref": "V",
"aa_start": 1290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5684,
"cdna_start": 4033,
"cds_end": null,
"cds_length": 5409,
"cds_start": 3870,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000884814.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.3870G>T",
"hgvs_p": "p.Val1290Val",
"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": "V",
"aa_end": null,
"aa_length": 1800,
"aa_ref": "V",
"aa_start": 1290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5675,
"cdna_start": 4031,
"cds_end": null,
"cds_length": 5403,
"cds_start": 3870,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000960192.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.3870G>T",
"hgvs_p": "p.Val1290Val",
"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": "V",
"aa_end": null,
"aa_length": 1797,
"aa_ref": "V",
"aa_start": 1286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5661,
"cdna_start": 4013,
"cds_end": null,
"cds_length": 5394,
"cds_start": 3858,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000960197.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.3858G>T",
"hgvs_p": "p.Val1286Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630256.1",
"strand": false,
"transcript": "ENST00000960197.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 1796,
"aa_ref": "V",
"aa_start": 1286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5693,
"cdna_start": 4047,
"cds_end": null,
"cds_length": 5391,
"cds_start": 3858,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000884810.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.3858G>T",
"hgvs_p": "p.Val1286Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554869.1",
"strand": false,
"transcript": "ENST00000884810.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 1795,
"aa_ref": "V",
"aa_start": 1283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5682,
"cdna_start": 4031,
"cds_end": null,
"cds_length": 5388,
"cds_start": 3849,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
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"exon_rank_end": null,
"feature": "ENST00000921218.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.3849G>T",
"hgvs_p": "p.Val1283Val",
"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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},
{
"aa_alt": "V",
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"aa_length": 1795,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 4031,
"cds_end": null,
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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.3849G>T",
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"mane_plus": null,
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"protein_id": "ENSP00000630247.1",
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"transcript": "ENST00000960188.1",
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},
{
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"aa_ref": "V",
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"consequences": [
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],
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"feature": "ENST00000960187.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.3858G>T",
"hgvs_p": "p.Val1286Val",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000630246.1",
"strand": false,
"transcript": "ENST00000960187.1",
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},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 32,
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"feature": "ENST00000960195.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.3792G>T",
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},
{
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"aa_ref": "V",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 32,
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"feature": "ENST00000960203.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.3858G>T",
"hgvs_p": "p.Val1286Val",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000630262.1",
"strand": false,
"transcript": "ENST00000960203.1",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_start": 4011,
"cds_end": null,
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"consequences": [
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],
"exon_count": 32,
"exon_rank": 25,
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"feature": "ENST00000960199.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.3858G>T",
"hgvs_p": "p.Val1286Val",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000630258.1",
"strand": false,
"transcript": "ENST00000960199.1",
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},
{
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"consequences": [
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"feature": "ENST00000960186.1",
"gene_hgnc_id": 6487,
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},
{
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],
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"feature": "ENST00000884809.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.3747G>T",
"hgvs_p": "p.Val1249Val",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000554868.1",
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"transcript": "ENST00000884809.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000960191.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.3747G>T",
"hgvs_p": "p.Val1249Val",
"intron_rank": null,
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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": "V",
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"aa_length": 1750,
"aa_ref": "V",
"aa_start": 1238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5527,
"cdna_start": 3876,
"cds_end": null,
"cds_length": 5253,
"cds_start": 3714,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000884815.1",
"gene_hgnc_id": 6487,
"gene_symbol": "LAMB2",
"hgvs_c": "c.3714G>T",
"hgvs_p": "p.Val1238Val",
"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": "V",
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"aa_length": 1745,
"aa_ref": "V",
"aa_start": 1233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5533,
"cdna_start": 3882,
"cds_end": null,
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