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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: 2-11771635-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=11771635&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "LPIN1",
"hgnc_id": 13345,
"hgvs_c": "c.699C>A",
"hgvs_p": "p.Ile233Ile",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001261428.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5400000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 926,
"aa_ref": "I",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5448,
"cdna_start": 601,
"cds_end": null,
"cds_length": 2781,
"cds_start": 552,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001349206.2",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
"hgvs_c": "c.552C>A",
"hgvs_p": "p.Ile184Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000674199.1",
"protein_coding": true,
"protein_id": "NP_001336135.1",
"strand": true,
"transcript": "NM_001349206.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 926,
"aa_ref": "I",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5448,
"cdna_start": 601,
"cds_end": null,
"cds_length": 2781,
"cds_start": 552,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000674199.1",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
"hgvs_c": "c.552C>A",
"hgvs_p": "p.Ile184Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001349206.2",
"protein_coding": true,
"protein_id": "ENSP00000501331.1",
"strand": true,
"transcript": "ENST00000674199.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 890,
"aa_ref": "I",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5384,
"cdna_start": 645,
"cds_end": null,
"cds_length": 2673,
"cds_start": 552,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000256720.6",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
"hgvs_c": "c.552C>A",
"hgvs_p": "p.Ile184Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000256720.2",
"strand": true,
"transcript": "ENST00000256720.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 459,
"aa_ref": "I",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1761,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1380,
"cds_start": 570,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000396098.5",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
"hgvs_c": "c.570C>A",
"hgvs_p": "p.Ile190Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379405.1",
"strand": true,
"transcript": "ENST00000396098.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 991,
"aa_ref": "I",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4233,
"cdna_start": 603,
"cds_end": null,
"cds_length": 2976,
"cds_start": 552,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000852442.1",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
"hgvs_c": "c.552C>A",
"hgvs_p": "p.Ile184Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522501.1",
"strand": true,
"transcript": "ENST00000852442.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 986,
"aa_ref": "I",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5671,
"cdna_start": 648,
"cds_end": null,
"cds_length": 2961,
"cds_start": 552,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000961826.1",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
"hgvs_c": "c.552C>A",
"hgvs_p": "p.Ile184Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631885.1",
"strand": true,
"transcript": "ENST00000961826.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 975,
"aa_ref": "I",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5650,
"cdna_start": 803,
"cds_end": null,
"cds_length": 2928,
"cds_start": 699,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001261428.3",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
"hgvs_c": "c.699C>A",
"hgvs_p": "p.Ile233Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001248357.1",
"strand": true,
"transcript": "NM_001261428.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 975,
"aa_ref": "I",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3077,
"cdna_start": 752,
"cds_end": null,
"cds_length": 2928,
"cds_start": 699,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000449576.6",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
"hgvs_c": "c.699C>A",
"hgvs_p": "p.Ile233Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397908.2",
"strand": true,
"transcript": "ENST00000449576.6",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 956,
"aa_ref": "I",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5593,
"cdna_start": 746,
"cds_end": null,
"cds_length": 2871,
"cds_start": 642,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001349207.2",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
"hgvs_c": "c.642C>A",
"hgvs_p": "p.Ile214Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336136.1",
"strand": true,
"transcript": "NM_001349207.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 939,
"aa_ref": "I",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5542,
"cdna_start": 803,
"cds_end": null,
"cds_length": 2820,
"cds_start": 699,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001349208.2",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
"hgvs_c": "c.699C>A",
"hgvs_p": "p.Ile233Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336137.1",
"strand": true,
"transcript": "NM_001349208.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 932,
"aa_ref": "I",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5690,
"cdna_start": 847,
"cds_end": null,
"cds_length": 2799,
"cds_start": 570,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000396097.5",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
"hgvs_c": "c.570C>A",
"hgvs_p": "p.Ile190Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379404.2",
"strand": true,
"transcript": "ENST00000396097.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 926,
"aa_ref": "I",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5566,
"cdna_start": 719,
"cds_end": null,
"cds_length": 2781,
"cds_start": 552,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001349204.2",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
"hgvs_c": "c.552C>A",
"hgvs_p": "p.Ile184Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336133.1",
"strand": true,
"transcript": "NM_001349204.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 926,
"aa_ref": "I",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5880,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 2781,
"cds_start": 552,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001349205.2",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
"hgvs_c": "c.552C>A",
"hgvs_p": "p.Ile184Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336134.1",
"strand": true,
"transcript": "NM_001349205.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 926,
"aa_ref": "I",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5582,
"cdna_start": 749,
"cds_end": null,
"cds_length": 2781,
"cds_start": 552,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000852429.1",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
"hgvs_c": "c.552C>A",
"hgvs_p": "p.Ile184Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522488.1",
"strand": true,
"transcript": "ENST00000852429.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 926,
"aa_ref": "I",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4588,
"cdna_start": 613,
"cds_end": null,
"cds_length": 2781,
"cds_start": 552,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000852439.1",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
"hgvs_c": "c.552C>A",
"hgvs_p": "p.Ile184Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522498.1",
"strand": true,
"transcript": "ENST00000852439.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 926,
"aa_ref": "I",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4852,
"cdna_start": 877,
"cds_end": null,
"cds_length": 2781,
"cds_start": 552,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000852440.1",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
"hgvs_c": "c.552C>A",
"hgvs_p": "p.Ile184Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522499.1",
"strand": true,
"transcript": "ENST00000852440.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 926,
"aa_ref": "I",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4541,
"cdna_start": 617,
"cds_end": null,
"cds_length": 2781,
"cds_start": 552,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000961824.1",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
"hgvs_c": "c.552C>A",
"hgvs_p": "p.Ile184Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631883.1",
"strand": true,
"transcript": "ENST00000961824.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 926,
"aa_ref": "I",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4594,
"cdna_start": 645,
"cds_end": null,
"cds_length": 2781,
"cds_start": 552,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000961825.1",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
"hgvs_c": "c.552C>A",
"hgvs_p": "p.Ile184Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631884.1",
"strand": true,
"transcript": "ENST00000961825.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 926,
"aa_ref": "I",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5563,
"cdna_start": 720,
"cds_end": null,
"cds_length": 2781,
"cds_start": 552,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000961827.1",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
"hgvs_c": "c.552C>A",
"hgvs_p": "p.Ile184Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631886.1",
"strand": true,
"transcript": "ENST00000961827.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 926,
"aa_ref": "I",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5020,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 2781,
"cds_start": 552,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000961831.1",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
"hgvs_c": "c.552C>A",
"hgvs_p": "p.Ile184Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631890.1",
"strand": true,
"transcript": "ENST00000961831.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 926,
"aa_ref": "I",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4879,
"cdna_start": 928,
"cds_end": null,
"cds_length": 2781,
"cds_start": 552,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000961832.1",
"gene_hgnc_id": 13345,
"gene_symbol": "LPIN1",
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