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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: 7-134178542-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=134178542&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 134178542,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001365700.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRGUK",
"gene_hgnc_id": 21964,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Val383Ile",
"transcript": "NM_144648.3",
"protein_id": "NP_653249.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 825,
"cds_start": 1147,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000285928.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144648.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRGUK",
"gene_hgnc_id": 21964,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Val383Ile",
"transcript": "ENST00000285928.3",
"protein_id": "ENSP00000285928.2",
"transcript_support_level": 1,
"aa_start": 383,
"aa_end": null,
"aa_length": 825,
"cds_start": 1147,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144648.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285928.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRGUK",
"gene_hgnc_id": 21964,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Val383Ile",
"transcript": "NM_001365700.3",
"protein_id": "NP_001352629.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 1131,
"cds_start": 1147,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365700.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRGUK",
"gene_hgnc_id": 21964,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Val383Ile",
"transcript": "ENST00000695542.2",
"protein_id": "ENSP00000511999.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 1131,
"cds_start": 1147,
"cds_end": null,
"cds_length": 3396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695542.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRGUK",
"gene_hgnc_id": 21964,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Val383Ile",
"transcript": "NM_001365701.3",
"protein_id": "NP_001352630.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 1130,
"cds_start": 1147,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365701.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRGUK",
"gene_hgnc_id": 21964,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Val383Ile",
"transcript": "ENST00000645682.1",
"protein_id": "ENSP00000495637.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 1130,
"cds_start": 1147,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645682.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRGUK",
"gene_hgnc_id": 21964,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Val383Ile",
"transcript": "NM_001401519.1",
"protein_id": "NP_001388448.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 621,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001401519.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRGUK",
"gene_hgnc_id": 21964,
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Val314Ile",
"transcript": "XM_024446658.2",
"protein_id": "XP_024302426.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 1062,
"cds_start": 940,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446658.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRGUK",
"gene_hgnc_id": 21964,
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Val314Ile",
"transcript": "XM_047419889.1",
"protein_id": "XP_047275845.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 1061,
"cds_start": 940,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419889.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRGUK",
"gene_hgnc_id": 21964,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Val383Ile",
"transcript": "XM_024446659.2",
"protein_id": "XP_024302427.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 812,
"cds_start": 1147,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446659.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRGUK",
"gene_hgnc_id": 21964,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Val383Ile",
"transcript": "XM_024446661.2",
"protein_id": "XP_024302429.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 787,
"cds_start": 1147,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446661.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRGUK",
"gene_hgnc_id": 21964,
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Val314Ile",
"transcript": "XM_047419890.1",
"protein_id": "XP_047275846.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 756,
"cds_start": 940,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419890.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRGUK",
"gene_hgnc_id": 21964,
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Val383Ile",
"transcript": "XM_024446662.2",
"protein_id": "XP_024302430.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 668,
"cds_start": 1147,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446662.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRGUK",
"gene_hgnc_id": 21964,
"hgvs_c": "n.1175G>A",
"hgvs_p": null,
"transcript": "NR_174939.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_174939.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRGUK",
"gene_hgnc_id": 21964,
"hgvs_c": "n.1175G>A",
"hgvs_p": null,
"transcript": "XR_002956408.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_002956408.2"
}
],
"gene_symbol": "LRGUK",
"gene_hgnc_id": 21964,
"dbsnp": "rs772723991",
"frequency_reference_population": 0.000025416459,
"hom_count_reference_population": 0,
"allele_count_reference_population": 41,
"gnomad_exomes_af": 0.0000266908,
"gnomad_genomes_af": 0.0000131622,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.038469284772872925,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.022,
"revel_prediction": "Benign",
"alphamissense_score": 0.0789,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.212,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001365700.3",
"gene_symbol": "LRGUK",
"hgnc_id": 21964,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Val383Ile"
}
],
"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
}