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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: 11-68413921-G-GT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68413921&ref=G&alt=GT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68413921,
"ref": "G",
"alt": "GT",
"effect": "frameshift_variant",
"transcript": "ENST00000294304.12",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.2737dupT",
"hgvs_p": "p.Cys913fs",
"transcript": "NM_002335.4",
"protein_id": "NP_002326.2",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1615,
"cds_start": 2738,
"cds_end": null,
"cds_length": 4848,
"cdna_start": 2862,
"cdna_end": null,
"cdna_length": 5177,
"mane_select": "ENST00000294304.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.2737dupT",
"hgvs_p": "p.Cys913fs",
"transcript": "ENST00000294304.12",
"protein_id": "ENSP00000294304.6",
"transcript_support_level": 1,
"aa_start": 913,
"aa_end": null,
"aa_length": 1615,
"cds_start": 2738,
"cds_end": null,
"cds_length": 4848,
"cdna_start": 2862,
"cdna_end": null,
"cdna_length": 5177,
"mane_select": "NM_002335.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "n.*1343dupT",
"hgvs_p": null,
"transcript": "ENST00000529993.5",
"protein_id": "ENSP00000436652.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "n.*1343dupT",
"hgvs_p": null,
"transcript": "ENST00000529993.5",
"protein_id": "ENSP00000436652.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.994dupT",
"hgvs_p": "p.Cys332fs",
"transcript": "NM_001291902.2",
"protein_id": "NP_001278831.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 1034,
"cds_start": 995,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 2884,
"cdna_end": null,
"cdna_length": 5199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.2764dupT",
"hgvs_p": "p.Cys922fs",
"transcript": "XM_011545029.2",
"protein_id": "XP_011543331.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1662,
"cds_start": 2765,
"cds_end": null,
"cds_length": 4989,
"cdna_start": 3234,
"cdna_end": null,
"cdna_length": 5663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.2737dupT",
"hgvs_p": "p.Cys913fs",
"transcript": "XM_005273994.3",
"protein_id": "XP_005274051.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1653,
"cds_start": 2738,
"cds_end": null,
"cds_length": 4962,
"cdna_start": 2862,
"cdna_end": null,
"cdna_length": 5291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.2764dupT",
"hgvs_p": "p.Cys922fs",
"transcript": "XM_011545030.2",
"protein_id": "XP_011543332.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1624,
"cds_start": 2765,
"cds_end": null,
"cds_length": 4875,
"cdna_start": 3234,
"cdna_end": null,
"cdna_length": 5549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.2764dupT",
"hgvs_p": "p.Cys922fs",
"transcript": "XM_011545031.2",
"protein_id": "XP_011543333.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1600,
"cds_start": 2765,
"cds_end": null,
"cds_length": 4803,
"cdna_start": 3234,
"cdna_end": null,
"cdna_length": 5679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.2764dupT",
"hgvs_p": "p.Cys922fs",
"transcript": "XM_047426948.1",
"protein_id": "XP_047282904.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1594,
"cds_start": 2765,
"cds_end": null,
"cds_length": 4785,
"cdna_start": 3234,
"cdna_end": null,
"cdna_length": 5427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.2764dupT",
"hgvs_p": "p.Cys922fs",
"transcript": "XM_047426949.1",
"protein_id": "XP_047282905.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1586,
"cds_start": 2765,
"cds_end": null,
"cds_length": 4761,
"cdna_start": 3234,
"cdna_end": null,
"cdna_length": 5443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.2764dupT",
"hgvs_p": "p.Cys922fs",
"transcript": "XM_047426950.1",
"protein_id": "XP_047282906.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1556,
"cds_start": 2765,
"cds_end": null,
"cds_length": 4671,
"cdna_start": 3234,
"cdna_end": null,
"cdna_length": 5313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.994dupT",
"hgvs_p": "p.Cys332fs",
"transcript": "XM_017017735.2",
"protein_id": "XP_016873224.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 1072,
"cds_start": 995,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "c.277dupT",
"hgvs_p": "p.Cys93fs",
"transcript": "XM_017017736.2",
"protein_id": "XP_016873225.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 833,
"cds_start": 278,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 2868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"hgvs_c": "n.*140_*141insT",
"hgvs_p": null,
"transcript": "XR_001747874.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LRP5",
"gene_hgnc_id": 6697,
"dbsnp": "rs886043590",
"frequency_reference_population": 0.000029155784,
"hom_count_reference_population": 0,
"allele_count_reference_population": 47,
"gnomad_exomes_af": 0.0000308263,
"gnomad_genomes_af": 0.0000131375,
"gnomad_exomes_ac": 45,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.47,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000294304.12",
"gene_symbol": "LRP5",
"hgnc_id": 6697,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR,SD,Unknown",
"hgvs_c": "c.2737dupT",
"hgvs_p": "p.Cys913fs"
}
],
"clinvar_disease": "6 conditions,Exudative vitreoretinopathy 4,Osteoporosis with pseudoglioma,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6",
"phenotype_combined": "not provided|Exudative vitreoretinopathy 4|Osteoporosis with pseudoglioma|6 conditions",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}