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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: 12-100942417-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=100942417&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 100942417,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001286615.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "NM_001286615.2",
"protein_id": "NP_001273544.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 955,
"cds_start": 338,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 4033,
"mane_select": "ENST00000392977.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "ENST00000392977.8",
"protein_id": "ENSP00000376703.3",
"transcript_support_level": 2,
"aa_start": 113,
"aa_end": null,
"aa_length": 955,
"cds_start": 338,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 4033,
"mane_select": "NM_001286615.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.836G>A",
"hgvs_p": "p.Arg279Gln",
"transcript": "ENST00000644049.1",
"protein_id": "ENSP00000494481.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 1121,
"cds_start": 836,
"cds_end": null,
"cds_length": 3366,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 3797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "NM_001286616.1",
"protein_id": "NP_001273545.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 955,
"cds_start": 338,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 3797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78Gln",
"transcript": "NM_178826.4",
"protein_id": "NP_849148.2",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 920,
"cds_start": 233,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 3928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78Gln",
"transcript": "ENST00000392979.7",
"protein_id": "ENSP00000376705.3",
"transcript_support_level": 2,
"aa_start": 78,
"aa_end": null,
"aa_length": 920,
"cds_start": 233,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310Gln",
"transcript": "XM_011537911.3",
"protein_id": "XP_011536213.2",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1152,
"cds_start": 929,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 4416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310Gln",
"transcript": "XM_011537912.3",
"protein_id": "XP_011536214.2",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1152,
"cds_start": 929,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 4420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310Gln",
"transcript": "XM_011537913.3",
"protein_id": "XP_011536215.2",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1137,
"cds_start": 929,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 4371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310Gln",
"transcript": "XM_047428302.1",
"protein_id": "XP_047284258.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1137,
"cds_start": 929,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 4375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275Gln",
"transcript": "XM_047428303.1",
"protein_id": "XP_047284259.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 1117,
"cds_start": 824,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 4311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275Gln",
"transcript": "XM_047428305.1",
"protein_id": "XP_047284261.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 1117,
"cds_start": 824,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275Gln",
"transcript": "XM_047428306.1",
"protein_id": "XP_047284262.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 1102,
"cds_start": 824,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 4266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.824G>A",
"hgvs_p": "p.Arg275Gln",
"transcript": "XM_047428307.1",
"protein_id": "XP_047284263.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 1102,
"cds_start": 824,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 4270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310Gln",
"transcript": "XM_011537915.3",
"protein_id": "XP_011536217.2",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1093,
"cds_start": 929,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310Gln",
"transcript": "XM_047428308.1",
"protein_id": "XP_047284264.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1093,
"cds_start": 929,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.488G>A",
"hgvs_p": "p.Arg163Gln",
"transcript": "XM_011537916.3",
"protein_id": "XP_011536218.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 1005,
"cds_start": 488,
"cds_end": null,
"cds_length": 3018,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 3884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Arg310Gln",
"transcript": "XM_011537918.3",
"protein_id": "XP_011536220.2",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 648,
"cds_start": 929,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 5729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "n.836G>A",
"hgvs_p": null,
"transcript": "ENST00000549155.6",
"protein_id": "ENSP00000449116.2",
"transcript_support_level": 2,
"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": 1385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"dbsnp": "rs1442015501",
"frequency_reference_population": 0.000002736476,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273648,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.34652215242385864,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.122,
"revel_prediction": "Benign",
"alphamissense_score": 0.1042,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.025,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001286615.2",
"gene_symbol": "ANO4",
"hgnc_id": 23837,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln"
}
],
"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
}