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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: 7-138706385-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=138706385&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "ATP6V0A4",
"hgnc_id": 866,
"hgvs_c": "c.*239G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_020632.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 106482,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.75,
"chr": "7",
"clinvar_classification": "Benign",
"clinvar_disease": "Autosomal recessive distal renal tubular acidosis,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.75,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 840,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3136,
"cdna_start": null,
"cds_end": null,
"cds_length": 2523,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_020632.3",
"gene_hgnc_id": 866,
"gene_symbol": "ATP6V0A4",
"hgvs_c": "c.*239G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000310018.7",
"protein_coding": true,
"protein_id": "NP_065683.2",
"strand": false,
"transcript": "NM_020632.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 840,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3136,
"cdna_start": null,
"cds_end": null,
"cds_length": 2523,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000310018.7",
"gene_hgnc_id": 866,
"gene_symbol": "ATP6V0A4",
"hgvs_c": "c.*239G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020632.3",
"protein_coding": true,
"protein_id": "ENSP00000308122.2",
"strand": false,
"transcript": "ENST00000310018.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 840,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3033,
"cdna_start": null,
"cds_end": null,
"cds_length": 2523,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_130840.3",
"gene_hgnc_id": 866,
"gene_symbol": "ATP6V0A4",
"hgvs_c": "c.*239G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_570855.2",
"strand": false,
"transcript": "NM_130840.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 840,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": null,
"cds_end": null,
"cds_length": 2523,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_130841.3",
"gene_hgnc_id": 866,
"gene_symbol": "ATP6V0A4",
"hgvs_c": "c.*239G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_570856.2",
"strand": false,
"transcript": "NM_130841.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 840,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3090,
"cdna_start": null,
"cds_end": null,
"cds_length": 2523,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000393054.5",
"gene_hgnc_id": 866,
"gene_symbol": "ATP6V0A4",
"hgvs_c": "c.*239G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376774.1",
"strand": false,
"transcript": "ENST00000393054.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 840,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3051,
"cdna_start": null,
"cds_end": null,
"cds_length": 2523,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000645515.1",
"gene_hgnc_id": 866,
"gene_symbol": "ATP6V0A4",
"hgvs_c": "c.*239G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496421.1",
"strand": false,
"transcript": "ENST00000645515.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 840,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3331,
"cdna_start": null,
"cds_end": null,
"cds_length": 2523,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000868981.1",
"gene_hgnc_id": 866,
"gene_symbol": "ATP6V0A4",
"hgvs_c": "c.*239G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539040.1",
"strand": false,
"transcript": "ENST00000868981.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 840,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3225,
"cdna_start": null,
"cds_end": null,
"cds_length": 2523,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000868982.1",
"gene_hgnc_id": 866,
"gene_symbol": "ATP6V0A4",
"hgvs_c": "c.*239G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539041.1",
"strand": false,
"transcript": "ENST00000868982.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 840,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3140,
"cdna_start": null,
"cds_end": null,
"cds_length": 2523,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000868983.1",
"gene_hgnc_id": 866,
"gene_symbol": "ATP6V0A4",
"hgvs_c": "c.*239G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539042.1",
"strand": false,
"transcript": "ENST00000868983.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 840,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3003,
"cdna_start": null,
"cds_end": null,
"cds_length": 2523,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000868984.1",
"gene_hgnc_id": 866,
"gene_symbol": "ATP6V0A4",
"hgvs_c": "c.*239G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539043.1",
"strand": false,
"transcript": "ENST00000868984.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 840,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2934,
"cdna_start": null,
"cds_end": null,
"cds_length": 2523,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000868987.1",
"gene_hgnc_id": 866,
"gene_symbol": "ATP6V0A4",
"hgvs_c": "c.*239G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539046.1",
"strand": false,
"transcript": "ENST00000868987.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 840,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2969,
"cdna_start": null,
"cds_end": null,
"cds_length": 2523,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000941116.1",
"gene_hgnc_id": 866,
"gene_symbol": "ATP6V0A4",
"hgvs_c": "c.*239G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611175.1",
"strand": false,
"transcript": "ENST00000941116.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 838,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3099,
"cdna_start": null,
"cds_end": null,
"cds_length": 2517,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000868986.1",
"gene_hgnc_id": 866,
"gene_symbol": "ATP6V0A4",
"hgvs_c": "c.*239G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539045.1",
"strand": false,
"transcript": "ENST00000868986.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 754,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2761,
"cdna_start": null,
"cds_end": null,
"cds_length": 2265,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000868985.1",
"gene_hgnc_id": 866,
"gene_symbol": "ATP6V0A4",
"hgvs_c": "c.*239G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539044.1",
"strand": false,
"transcript": "ENST00000868985.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 582,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2234,
"cdna_start": null,
"cds_end": null,
"cds_length": 1749,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000644341.1",
"gene_hgnc_id": 866,
"gene_symbol": "ATP6V0A4",
"hgvs_c": "c.*239G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495642.1",
"strand": false,
"transcript": "ENST00000644341.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 456,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": null,
"cds_end": null,
"cds_length": 1371,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000478480.2",
"gene_hgnc_id": 866,
"gene_symbol": "ATP6V0A4",
"hgvs_c": "c.*327G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495261.1",
"strand": false,
"transcript": "ENST00000478480.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1583,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000647427.1",
"gene_hgnc_id": 866,
"gene_symbol": "ATP6V0A4",
"hgvs_c": "n.*475G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496259.1",
"strand": false,
"transcript": "ENST00000647427.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1583,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000647427.1",
"gene_hgnc_id": 866,
"gene_symbol": "ATP6V0A4",
"hgvs_c": "n.*475G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496259.1",
"strand": false,
"transcript": "ENST00000647427.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 840,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2709,
"cdna_start": null,
"cds_end": null,
"cds_length": 2523,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000353492.4",
"gene_hgnc_id": 866,
"gene_symbol": "ATP6V0A4",
"hgvs_c": "c.*239G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000253856.6",
"strand": true,
"transcript": "ENST00000353492.4",
"transcript_support_level": 1
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs8846",
"effect": "3_prime_UTR_variant",
"frequency_reference_population": 0.20112422,
"gene_hgnc_id": 866,
"gene_symbol": "ATP6V0A4",
"gnomad_exomes_ac": 72706,
"gnomad_exomes_af": 0.192692,
"gnomad_exomes_homalt": 7659,
"gnomad_genomes_ac": 33776,
"gnomad_genomes_af": 0.222041,
"gnomad_genomes_homalt": 4041,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 11700,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "Autosomal recessive distal renal tubular acidosis|not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.659,
"pos": 138706385,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_020632.3"
}
]
}