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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: 6-42828908-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=42828908&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 42828908,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015349.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRAL",
"gene_hgnc_id": 21111,
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Val192Ala",
"transcript": "NM_001393499.1",
"protein_id": "NP_001380428.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1079,
"cds_start": 575,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314073.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393499.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRAL",
"gene_hgnc_id": 21111,
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Val192Ala",
"transcript": "ENST00000314073.10",
"protein_id": "ENSP00000313933.4",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 1079,
"cds_start": 575,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001393499.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314073.10"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRAL",
"gene_hgnc_id": 21111,
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Val192Ala",
"transcript": "ENST00000394168.1",
"protein_id": "ENSP00000377723.1",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 1079,
"cds_start": 575,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394168.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRAL",
"gene_hgnc_id": 21111,
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Val192Ala",
"transcript": "NM_001318819.2",
"protein_id": "NP_001305748.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1079,
"cds_start": 575,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318819.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRAL",
"gene_hgnc_id": 21111,
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Val192Ala",
"transcript": "NM_015349.3",
"protein_id": "NP_056164.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1079,
"cds_start": 575,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015349.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRAL",
"gene_hgnc_id": 21111,
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Val192Ala",
"transcript": "ENST00000909955.1",
"protein_id": "ENSP00000580014.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1079,
"cds_start": 575,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909955.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRAL",
"gene_hgnc_id": 21111,
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Val192Ala",
"transcript": "ENST00000924106.1",
"protein_id": "ENSP00000594165.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1079,
"cds_start": 575,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924106.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRAL",
"gene_hgnc_id": 21111,
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Val192Ala",
"transcript": "ENST00000924108.1",
"protein_id": "ENSP00000594167.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1079,
"cds_start": 575,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924108.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRAL",
"gene_hgnc_id": 21111,
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Val192Ala",
"transcript": "ENST00000924110.1",
"protein_id": "ENSP00000594169.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1079,
"cds_start": 575,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924110.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRAL",
"gene_hgnc_id": 21111,
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Val192Ala",
"transcript": "ENST00000954760.1",
"protein_id": "ENSP00000624819.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1079,
"cds_start": 575,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954760.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRAL",
"gene_hgnc_id": 21111,
"hgvs_c": "c.887T>C",
"hgvs_p": "p.Val296Ala",
"transcript": "XM_047418542.1",
"protein_id": "XP_047274498.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 1183,
"cds_start": 887,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418542.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRAL",
"gene_hgnc_id": 21111,
"hgvs_c": "c.887T>C",
"hgvs_p": "p.Val296Ala",
"transcript": "XM_047418543.1",
"protein_id": "XP_047274499.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 1183,
"cds_start": 887,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418543.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRAL",
"gene_hgnc_id": 21111,
"hgvs_c": "c.887T>C",
"hgvs_p": "p.Val296Ala",
"transcript": "XM_047418544.1",
"protein_id": "XP_047274500.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 1183,
"cds_start": 887,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418544.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRAL",
"gene_hgnc_id": 21111,
"hgvs_c": "c.887T>C",
"hgvs_p": "p.Val296Ala",
"transcript": "XM_047418545.1",
"protein_id": "XP_047274501.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 1183,
"cds_start": 887,
"cds_end": null,
"cds_length": 3552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418545.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRAL",
"gene_hgnc_id": 21111,
"hgvs_c": "c.785T>C",
"hgvs_p": "p.Val262Ala",
"transcript": "XM_047418547.1",
"protein_id": "XP_047274503.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 1149,
"cds_start": 785,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418547.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRAL",
"gene_hgnc_id": 21111,
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Val192Ala",
"transcript": "XM_024446390.2",
"protein_id": "XP_024302158.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 1079,
"cds_start": 575,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446390.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BICRAL",
"gene_hgnc_id": 21111,
"hgvs_c": "n.843T>C",
"hgvs_p": null,
"transcript": "XR_007059228.1",
"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": "XR_007059228.1"
}
],
"gene_symbol": "BICRAL",
"gene_hgnc_id": 21111,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.34494441747665405,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.092,
"revel_prediction": "Benign",
"alphamissense_score": 0.6454,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.435,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015349.3",
"gene_symbol": "BICRAL",
"hgnc_id": 21111,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Val192Ala"
}
],
"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
}