← Back to variant description
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: 11-68312746-CGCTGCTGCTGCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68312746&ref=CGCTGCTGCTGCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"conservative_inframe_deletion"
],
"gene_symbol": "LRP5",
"hgnc_id": 6697,
"hgvs_c": "c.49_60delCTGCTGCTGCTG",
"hgvs_p": "p.Leu17_Leu20del",
"inheritance_mode": "AD,AR,Unknown,SD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_002335.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 88,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1615,
"aa_ref": "LLLL",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5177,
"cdna_start": 173,
"cds_end": null,
"cds_length": 4848,
"cds_start": 49,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_002335.4",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.49_60delCTGCTGCTGCTG",
"hgvs_p": "p.Leu17_Leu20del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000294304.12",
"protein_coding": true,
"protein_id": "NP_002326.2",
"strand": true,
"transcript": "NM_002335.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1615,
"aa_ref": "LLLL",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5177,
"cdna_start": 173,
"cds_end": null,
"cds_length": 4848,
"cds_start": 49,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000294304.12",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.49_60delCTGCTGCTGCTG",
"hgvs_p": "p.Leu17_Leu20del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002335.4",
"protein_coding": true,
"protein_id": "ENSP00000294304.6",
"strand": true,
"transcript": "ENST00000294304.12",
"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": 5103,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000529993.5",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "n.49_60delCTGCTGCTGCTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000436652.1",
"strand": true,
"transcript": "ENST00000529993.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1636,
"aa_ref": "LLLL",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5223,
"cdna_start": 165,
"cds_end": null,
"cds_length": 4911,
"cds_start": 49,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000909991.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.49_60delCTGCTGCTGCTG",
"hgvs_p": "p.Leu17_Leu20del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580050.1",
"strand": true,
"transcript": "ENST00000909991.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1622,
"aa_ref": "LLLL",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5195,
"cdna_start": 173,
"cds_end": null,
"cds_length": 4869,
"cds_start": 49,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000909989.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.49_60delCTGCTGCTGCTG",
"hgvs_p": "p.Leu17_Leu20del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580048.1",
"strand": true,
"transcript": "ENST00000909989.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1614,
"aa_ref": "LLLL",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5124,
"cdna_start": 123,
"cds_end": null,
"cds_length": 4845,
"cds_start": 49,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000909993.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.49_60delCTGCTGCTGCTG",
"hgvs_p": "p.Leu17_Leu20del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580052.1",
"strand": true,
"transcript": "ENST00000909993.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1578,
"aa_ref": "LLLL",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4952,
"cdna_start": 151,
"cds_end": null,
"cds_length": 4737,
"cds_start": 49,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000909994.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.49_60delCTGCTGCTGCTG",
"hgvs_p": "p.Leu17_Leu20del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580053.1",
"strand": true,
"transcript": "ENST00000909994.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1549,
"aa_ref": "LLLL",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4967,
"cdna_start": 170,
"cds_end": null,
"cds_length": 4650,
"cds_start": 49,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000909990.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.49_60delCTGCTGCTGCTG",
"hgvs_p": "p.Leu17_Leu20del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580049.1",
"strand": true,
"transcript": "ENST00000909990.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1548,
"aa_ref": "LLLL",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4899,
"cdna_start": 99,
"cds_end": null,
"cds_length": 4647,
"cds_start": 49,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000921489.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.49_60delCTGCTGCTGCTG",
"hgvs_p": "p.Leu17_Leu20del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591548.1",
"strand": true,
"transcript": "ENST00000921489.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1536,
"aa_ref": "LLLL",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4918,
"cdna_start": 160,
"cds_end": null,
"cds_length": 4611,
"cds_start": 49,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000909992.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.49_60delCTGCTGCTGCTG",
"hgvs_p": "p.Leu17_Leu20del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580051.1",
"strand": true,
"transcript": "ENST00000909992.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1307,
"aa_ref": "LLLL",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4393,
"cdna_start": 317,
"cds_end": null,
"cds_length": 3924,
"cds_start": 49,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000921488.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.49_60delCTGCTGCTGCTG",
"hgvs_p": "p.Leu17_Leu20del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591547.1",
"strand": true,
"transcript": "ENST00000921488.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1653,
"aa_ref": "LLLL",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5291,
"cdna_start": 173,
"cds_end": null,
"cds_length": 4962,
"cds_start": 49,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_005273994.3",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.49_60delCTGCTGCTGCTG",
"hgvs_p": "p.Leu17_Leu20del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005274051.1",
"strand": true,
"transcript": "XM_005273994.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1034,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5199,
"cdna_start": null,
"cds_end": null,
"cds_length": 3105,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001291902.2",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.-1717_-1706delCTGCTGCTGCTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278831.1",
"strand": true,
"transcript": "NM_001291902.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1662,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5663,
"cdna_start": null,
"cds_end": null,
"cds_length": 4989,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011545029.2",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.118+13765_118+13776delCTGCTGCTGCTG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543331.1",
"strand": true,
"transcript": "XM_011545029.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1624,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5549,
"cdna_start": null,
"cds_end": null,
"cds_length": 4875,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011545030.2",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.118+13765_118+13776delCTGCTGCTGCTG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543332.1",
"strand": true,
"transcript": "XM_011545030.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1600,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5679,
"cdna_start": null,
"cds_end": null,
"cds_length": 4803,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011545031.2",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.118+13765_118+13776delCTGCTGCTGCTG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543333.1",
"strand": true,
"transcript": "XM_011545031.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1594,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5427,
"cdna_start": null,
"cds_end": null,
"cds_length": 4785,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047426948.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.118+13765_118+13776delCTGCTGCTGCTG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282904.1",
"strand": true,
"transcript": "XM_047426948.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1586,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5443,
"cdna_start": null,
"cds_end": null,
"cds_length": 4761,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047426949.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.118+13765_118+13776delCTGCTGCTGCTG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282905.1",
"strand": true,
"transcript": "XM_047426949.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1556,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5313,
"cdna_start": null,
"cds_end": null,
"cds_length": 4671,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047426950.1",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "c.118+13765_118+13776delCTGCTGCTGCTG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282906.1",
"strand": true,
"transcript": "XM_047426950.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3316,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_001747874.2",
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"hgvs_c": "n.587+13765_587+13776delCTGCTGCTGCTG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_001747874.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs72555376",
"effect": "conservative_inframe_deletion",
"frequency_reference_population": 0.00008291827,
"gene_hgnc_id": 6697,
"gene_symbol": "LRP5",
"gnomad_exomes_ac": 71,
"gnomad_exomes_af": 0.0000774375,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 17,
"gnomad_genomes_af": 0.000117714,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.307,
"pos": 68312746,
"ref": "CGCTGCTGCTGCT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_002335.4"
}
]
}