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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: 3-179405253-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=179405253&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 179405253,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000232564.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.853T>G",
"hgvs_p": "p.Leu285Val",
"transcript": "NM_021629.4",
"protein_id": "NP_067642.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 340,
"cds_start": 853,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 6315,
"mane_select": "ENST00000232564.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.853T>G",
"hgvs_p": "p.Leu285Val",
"transcript": "ENST00000232564.8",
"protein_id": "ENSP00000232564.3",
"transcript_support_level": 1,
"aa_start": 285,
"aa_end": null,
"aa_length": 340,
"cds_start": 853,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 6315,
"mane_select": "NM_021629.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.700-3934T>G",
"hgvs_p": null,
"transcript": "ENST00000466899.6",
"protein_id": "ENSP00000420066.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 242,
"cds_start": -4,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.853T>G",
"hgvs_p": "p.Leu285Val",
"transcript": "ENST00000674862.1",
"protein_id": "ENSP00000502628.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 340,
"cds_start": 853,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.853T>G",
"hgvs_p": "p.Leu285Val",
"transcript": "ENST00000676128.1",
"protein_id": "ENSP00000501882.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 340,
"cds_start": 853,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 6386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.814T>G",
"hgvs_p": "p.Leu272Val",
"transcript": "ENST00000468623.6",
"protein_id": "ENSP00000419693.2",
"transcript_support_level": 2,
"aa_start": 272,
"aa_end": null,
"aa_length": 327,
"cds_start": 814,
"cds_end": null,
"cds_length": 984,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.853T>G",
"hgvs_p": "p.Leu285Val",
"transcript": "ENST00000675901.1",
"protein_id": "ENSP00000501992.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 322,
"cds_start": 853,
"cds_end": null,
"cds_length": 969,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 1187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.853T>G",
"hgvs_p": "p.Leu285Val",
"transcript": "ENST00000674927.1",
"protein_id": "ENSP00000501774.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 306,
"cds_start": 853,
"cds_end": null,
"cds_length": 921,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.745T>G",
"hgvs_p": "p.Leu249Val",
"transcript": "ENST00000674713.1",
"protein_id": "ENSP00000502144.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 304,
"cds_start": 745,
"cds_end": null,
"cds_length": 915,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.853T>G",
"hgvs_p": "p.Leu285Val",
"transcript": "XM_005247692.3",
"protein_id": "XP_005247749.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 340,
"cds_start": 853,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 4537,
"cdna_end": null,
"cdna_length": 9832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.853T>G",
"hgvs_p": "p.Leu285Val",
"transcript": "XM_006713721.3",
"protein_id": "XP_006713784.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 340,
"cds_start": 853,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 6428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.853T>G",
"hgvs_p": "p.Leu285Val",
"transcript": "XM_047448653.1",
"protein_id": "XP_047304609.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 340,
"cds_start": 853,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 6424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.853T>G",
"hgvs_p": "p.Leu285Val",
"transcript": "XM_047448654.1",
"protein_id": "XP_047304610.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 340,
"cds_start": 853,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 6424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272699",
"gene_hgnc_id": null,
"hgvs_c": "n.-195A>C",
"hgvs_p": null,
"transcript": "ENST00000608131.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"dbsnp": "rs554623238",
"frequency_reference_population": 0.000044603916,
"hom_count_reference_population": 0,
"allele_count_reference_population": 72,
"gnomad_exomes_af": 0.000026678,
"gnomad_genomes_af": 0.000216632,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 33,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5904144048690796,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.241,
"revel_prediction": "Benign",
"alphamissense_score": 0.3671,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.513,
"phylop100way_prediction": "Benign",
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000232564.8",
"gene_symbol": "GNB4",
"hgnc_id": 20731,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.853T>G",
"hgvs_p": "p.Leu285Val"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000608131.1",
"gene_symbol": "ENSG00000272699",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-195A>C",
"hgvs_p": null
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease dominant intermediate F,Inborn genetic diseases",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Charcot-Marie-Tooth disease dominant intermediate F|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}