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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: 19-54454996-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54454996&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 54454996,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000326764.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LENG8",
"gene_hgnc_id": 15500,
"hgvs_c": "c.725C>A",
"hgvs_p": "p.Pro242His",
"transcript": "NM_052925.4",
"protein_id": "NP_443157.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 800,
"cds_start": 725,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 3658,
"mane_select": "ENST00000326764.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LENG8",
"gene_hgnc_id": 15500,
"hgvs_c": "c.725C>A",
"hgvs_p": "p.Pro242His",
"transcript": "ENST00000326764.10",
"protein_id": "ENSP00000318374.5",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 800,
"cds_start": 725,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 3658,
"mane_select": "NM_052925.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LENG8",
"gene_hgnc_id": 15500,
"hgvs_c": "c.725C>A",
"hgvs_p": "p.Pro242His",
"transcript": "NM_001375638.1",
"protein_id": "NP_001362567.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 874,
"cds_start": 725,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 5902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LENG8",
"gene_hgnc_id": 15500,
"hgvs_c": "c.725C>A",
"hgvs_p": "p.Pro242His",
"transcript": "NM_001375640.1",
"protein_id": "NP_001362569.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 874,
"cds_start": 725,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 5878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LENG8",
"gene_hgnc_id": 15500,
"hgvs_c": "c.725C>A",
"hgvs_p": "p.Pro242His",
"transcript": "NM_001375641.1",
"protein_id": "NP_001362570.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 874,
"cds_start": 725,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 5898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LENG8",
"gene_hgnc_id": 15500,
"hgvs_c": "c.725C>A",
"hgvs_p": "p.Pro242His",
"transcript": "ENST00000610347.1",
"protein_id": "ENSP00000478590.1",
"transcript_support_level": 5,
"aa_start": 242,
"aa_end": null,
"aa_length": 874,
"cds_start": 725,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 5789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LENG8",
"gene_hgnc_id": 15500,
"hgvs_c": "c.671C>A",
"hgvs_p": "p.Pro224His",
"transcript": "NM_001375639.1",
"protein_id": "NP_001362568.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 856,
"cds_start": 671,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 5809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LENG8",
"gene_hgnc_id": 15500,
"hgvs_c": "c.671C>A",
"hgvs_p": "p.Pro224His",
"transcript": "NM_001438283.1",
"protein_id": "NP_001425212.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 856,
"cds_start": 671,
"cds_end": null,
"cds_length": 2571,
"cdna_start": 795,
"cdna_end": null,
"cdna_length": 5805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LENG8",
"gene_hgnc_id": 15500,
"hgvs_c": "c.614C>A",
"hgvs_p": "p.Pro205His",
"transcript": "NM_001411063.1",
"protein_id": "NP_001397992.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 837,
"cds_start": 614,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 5767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LENG8",
"gene_hgnc_id": 15500,
"hgvs_c": "c.614C>A",
"hgvs_p": "p.Pro205His",
"transcript": "NM_001437985.1",
"protein_id": "NP_001424914.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 837,
"cds_start": 614,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 5787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LENG8",
"gene_hgnc_id": 15500,
"hgvs_c": "c.614C>A",
"hgvs_p": "p.Pro205His",
"transcript": "NM_001438284.1",
"protein_id": "NP_001425213.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 837,
"cds_start": 614,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 5791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LENG8",
"gene_hgnc_id": 15500,
"hgvs_c": "c.614C>A",
"hgvs_p": "p.Pro205His",
"transcript": "ENST00000376514.6",
"protein_id": "ENSP00000365697.3",
"transcript_support_level": 5,
"aa_start": 205,
"aa_end": null,
"aa_length": 837,
"cds_start": 614,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 5146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LENG8",
"gene_hgnc_id": 15500,
"hgvs_c": "c.560C>A",
"hgvs_p": "p.Pro187His",
"transcript": "NM_001438285.1",
"protein_id": "NP_001425214.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 819,
"cds_start": 560,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 5698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LENG8",
"gene_hgnc_id": 15500,
"hgvs_c": "c.725C>A",
"hgvs_p": "p.Pro242His",
"transcript": "NM_001438286.1",
"protein_id": "NP_001425215.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 800,
"cds_start": 725,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 3654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LENG8",
"gene_hgnc_id": 15500,
"hgvs_c": "c.725C>A",
"hgvs_p": "p.Pro242His",
"transcript": "NM_001438287.1",
"protein_id": "NP_001425216.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 800,
"cds_start": 725,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 868,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LENG8",
"gene_hgnc_id": 15500,
"hgvs_c": "c.614C>A",
"hgvs_p": "p.Pro205His",
"transcript": "NM_001438288.1",
"protein_id": "NP_001425217.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 763,
"cds_start": 614,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LENG8",
"gene_hgnc_id": 15500,
"hgvs_c": "c.614C>A",
"hgvs_p": "p.Pro205His",
"transcript": "NM_001438289.1",
"protein_id": "NP_001425218.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 763,
"cds_start": 614,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LENG8",
"gene_hgnc_id": 15500,
"hgvs_c": "c.614C>A",
"hgvs_p": "p.Pro205His",
"transcript": "NM_001438290.1",
"protein_id": "NP_001425219.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 763,
"cds_start": 614,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 3523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LENG8",
"gene_hgnc_id": 15500,
"hgvs_c": "c.725C>A",
"hgvs_p": "p.Pro242His",
"transcript": "ENST00000439657.5",
"protein_id": "ENSP00000399507.1",
"transcript_support_level": 5,
"aa_start": 242,
"aa_end": null,
"aa_length": 299,
"cds_start": 725,
"cds_end": null,
"cds_length": 901,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 1073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LENG8",
"gene_hgnc_id": 15500,
"dbsnp": "rs147412771",
"frequency_reference_population": 0.00004336836,
"hom_count_reference_population": 0,
"allele_count_reference_population": 70,
"gnomad_exomes_af": 0.0000239418,
"gnomad_genomes_af": 0.000229961,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 35,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36970609426498413,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.378,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5874,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.354,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000326764.10",
"gene_symbol": "LENG8",
"hgnc_id": 15500,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.725C>A",
"hgvs_p": "p.Pro242His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}