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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: 4-169689073-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=169689073&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 169689073,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_173872.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"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": "CLCN3",
"gene_hgnc_id": 2021,
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Ala150Val",
"transcript": "NM_001829.4",
"protein_id": "NP_001820.2",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 818,
"cds_start": 449,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000513761.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001829.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"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": "CLCN3",
"gene_hgnc_id": 2021,
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Ala150Val",
"transcript": "ENST00000513761.6",
"protein_id": "ENSP00000424603.1",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 818,
"cds_start": 449,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001829.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513761.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN3",
"gene_hgnc_id": 2021,
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Ala150Val",
"transcript": "ENST00000347613.9",
"protein_id": "ENSP00000261514.5",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 866,
"cds_start": 449,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347613.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN3",
"gene_hgnc_id": 2021,
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Ala150Val",
"transcript": "NM_173872.4",
"protein_id": "NP_776297.2",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 866,
"cds_start": 449,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173872.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "CLCN3",
"gene_hgnc_id": 2021,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Ala172Val",
"transcript": "ENST00000898875.1",
"protein_id": "ENSP00000568934.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 840,
"cds_start": 515,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898875.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "CLCN3",
"gene_hgnc_id": 2021,
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Ala150Val",
"transcript": "ENST00000898874.1",
"protein_id": "ENSP00000568933.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 818,
"cds_start": 449,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898874.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "CLCN3",
"gene_hgnc_id": 2021,
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Ala150Val",
"transcript": "ENST00000942633.1",
"protein_id": "ENSP00000612692.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 818,
"cds_start": 449,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942633.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "CLCN3",
"gene_hgnc_id": 2021,
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Ala150Val",
"transcript": "NM_001243372.2",
"protein_id": "NP_001230301.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 791,
"cds_start": 449,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243372.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN3",
"gene_hgnc_id": 2021,
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ala123Val",
"transcript": "NM_001243374.2",
"protein_id": "NP_001230303.2",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 791,
"cds_start": 368,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243374.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "CLCN3",
"gene_hgnc_id": 2021,
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Ala150Val",
"transcript": "ENST00000360642.7",
"protein_id": "ENSP00000353857.3",
"transcript_support_level": 2,
"aa_start": 150,
"aa_end": null,
"aa_length": 791,
"cds_start": 449,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360642.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN3",
"gene_hgnc_id": 2021,
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ala123Val",
"transcript": "ENST00000507875.6",
"protein_id": "ENSP00000425323.2",
"transcript_support_level": 2,
"aa_start": 123,
"aa_end": null,
"aa_length": 791,
"cds_start": 368,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507875.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "CLCN3",
"gene_hgnc_id": 2021,
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Ala150Val",
"transcript": "ENST00000942634.1",
"protein_id": "ENSP00000612693.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 636,
"cds_start": 449,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942634.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN3",
"gene_hgnc_id": 2021,
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Ala150Val",
"transcript": "ENST00000511092.5",
"protein_id": "ENSP00000425160.1",
"transcript_support_level": 3,
"aa_start": 150,
"aa_end": null,
"aa_length": 172,
"cds_start": 449,
"cds_end": null,
"cds_length": 521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511092.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN3",
"gene_hgnc_id": 2021,
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Ala123Val",
"transcript": "XM_005262726.4",
"protein_id": "XP_005262783.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 839,
"cds_start": 368,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262726.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN3",
"gene_hgnc_id": 2021,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Ala115Val",
"transcript": "XM_011531586.3",
"protein_id": "XP_011529888.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 831,
"cds_start": 344,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531586.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN3",
"gene_hgnc_id": 2021,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "XM_047449584.1",
"protein_id": "XP_047305540.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 808,
"cds_start": 275,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449584.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN3",
"gene_hgnc_id": 2021,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Ala115Val",
"transcript": "XM_047449585.1",
"protein_id": "XP_047305541.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 783,
"cds_start": 344,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449585.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "CLCN3",
"gene_hgnc_id": 2021,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Ala115Val",
"transcript": "XM_047449586.1",
"protein_id": "XP_047305542.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 783,
"cds_start": 344,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449586.1"
}
],
"gene_symbol": "CLCN3",
"gene_hgnc_id": 2021,
"dbsnp": "rs1011368029",
"frequency_reference_population": 0.0000065715976,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000065716,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6282141804695129,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.55,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4396,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.164,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_173872.4",
"gene_symbol": "CLCN3",
"hgnc_id": 2021,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Ala150Val"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}