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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: 20-3745918-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3745918&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 3745918,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000254963.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA12B",
"gene_hgnc_id": 16193,
"hgvs_c": "c.562C>G",
"hgvs_p": "p.Leu188Val",
"transcript": "NM_052970.5",
"protein_id": "NP_443202.3",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 686,
"cds_start": 562,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 3133,
"mane_select": "ENST00000254963.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA12B",
"gene_hgnc_id": 16193,
"hgvs_c": "c.562C>G",
"hgvs_p": "p.Leu188Val",
"transcript": "ENST00000254963.7",
"protein_id": "ENSP00000254963.2",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 686,
"cds_start": 562,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 3133,
"mane_select": "NM_052970.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA12B",
"gene_hgnc_id": 16193,
"hgvs_c": "c.304C>G",
"hgvs_p": "p.Leu102Val",
"transcript": "ENST00000399701.1",
"protein_id": "ENSP00000382608.1",
"transcript_support_level": 1,
"aa_start": 102,
"aa_end": null,
"aa_length": 600,
"cds_start": 304,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 3009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA12B",
"gene_hgnc_id": 16193,
"hgvs_c": "c.304C>G",
"hgvs_p": "p.Leu102Val",
"transcript": "NM_001318322.2",
"protein_id": "NP_001305251.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 600,
"cds_start": 304,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA12B",
"gene_hgnc_id": 16193,
"hgvs_c": "c.562C>G",
"hgvs_p": "p.Leu188Val",
"transcript": "XM_017027632.3",
"protein_id": "XP_016883121.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 686,
"cds_start": 562,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 3065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "HSPA12B",
"gene_hgnc_id": 16193,
"hgvs_c": "c.562C>G",
"hgvs_p": "p.Leu188Val",
"transcript": "XM_047439869.1",
"protein_id": "XP_047295825.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 686,
"cds_start": 562,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 3209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA12B",
"gene_hgnc_id": 16193,
"hgvs_c": "c.484C>G",
"hgvs_p": "p.Leu162Val",
"transcript": "XM_047439870.1",
"protein_id": "XP_047295826.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 660,
"cds_start": 484,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA12B",
"gene_hgnc_id": 16193,
"hgvs_c": "c.64C>G",
"hgvs_p": "p.Leu22Val",
"transcript": "XM_011529151.3",
"protein_id": "XP_011527453.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 520,
"cds_start": 64,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA12B",
"gene_hgnc_id": 16193,
"hgvs_c": "c.562C>G",
"hgvs_p": "p.Leu188Val",
"transcript": "XM_017027633.2",
"protein_id": "XP_016883122.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 499,
"cds_start": 562,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 1642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA12B",
"gene_hgnc_id": 16193,
"hgvs_c": "c.562C>G",
"hgvs_p": "p.Leu188Val",
"transcript": "XM_017027634.1",
"protein_id": "XP_016883123.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 470,
"cds_start": 562,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA12B",
"gene_hgnc_id": 16193,
"hgvs_c": "c.562C>G",
"hgvs_p": "p.Leu188Val",
"transcript": "XM_017027635.2",
"protein_id": "XP_016883124.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 470,
"cds_start": 562,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 3409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSPA12B",
"gene_hgnc_id": 16193,
"hgvs_c": "c.559C>G",
"hgvs_p": "p.Leu187Val",
"transcript": "NM_001197327.2",
"protein_id": "NP_001184256.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 685,
"cds_start": 559,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HSPA12B",
"gene_hgnc_id": 16193,
"dbsnp": "rs6076550",
"frequency_reference_population": 6.8423134e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84231e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21786606311798096,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.076,
"revel_prediction": "Benign",
"alphamissense_score": 0.1417,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.001,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000254963.7",
"gene_symbol": "HSPA12B",
"hgnc_id": 16193,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.562C>G",
"hgvs_p": "p.Leu188Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}