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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: 4-42425571-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=42425571&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 42425571,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_006095.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.3124-1866T>C",
"hgvs_p": null,
"transcript": "NM_006095.2",
"protein_id": "NP_006086.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1164,
"cds_start": null,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381668.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006095.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.3124-1866T>C",
"hgvs_p": null,
"transcript": "ENST00000381668.9",
"protein_id": "ENSP00000371084.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1164,
"cds_start": null,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006095.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381668.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.3079-1866T>C",
"hgvs_p": null,
"transcript": "ENST00000264449.14",
"protein_id": "ENSP00000264449.10",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1149,
"cds_start": null,
"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": "ENST00000264449.14"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "n.*776-1866T>C",
"hgvs_p": null,
"transcript": "ENST00000514372.5",
"protein_id": "ENSP00000426495.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000514372.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.3124-1866T>C",
"hgvs_p": null,
"transcript": "NM_001400024.1",
"protein_id": "NP_001386953.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1164,
"cds_start": null,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400024.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.3124-1866T>C",
"hgvs_p": null,
"transcript": "ENST00000905753.1",
"protein_id": "ENSP00000575812.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1164,
"cds_start": null,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905753.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.3100-1866T>C",
"hgvs_p": null,
"transcript": "NM_001400025.1",
"protein_id": "NP_001386954.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1156,
"cds_start": null,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400025.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.3100-1866T>C",
"hgvs_p": null,
"transcript": "ENST00000905752.1",
"protein_id": "ENSP00000575811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1156,
"cds_start": null,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905752.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.3079-1866T>C",
"hgvs_p": null,
"transcript": "NM_001105529.1",
"protein_id": "NP_001098999.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1149,
"cds_start": null,
"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": "NM_001105529.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.3079-1866T>C",
"hgvs_p": null,
"transcript": "NM_001400026.1",
"protein_id": "NP_001386955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1149,
"cds_start": null,
"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": "NM_001400026.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.3079-1866T>C",
"hgvs_p": null,
"transcript": "ENST00000700470.1",
"protein_id": "ENSP00000515003.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1149,
"cds_start": null,
"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": "ENST00000700470.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2968-1866T>C",
"hgvs_p": null,
"transcript": "ENST00000905751.1",
"protein_id": "ENSP00000575810.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1112,
"cds_start": null,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905751.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2587-1866T>C",
"hgvs_p": null,
"transcript": "NM_001400027.1",
"protein_id": "NP_001386956.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 985,
"cds_start": null,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400027.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.3145-1866T>C",
"hgvs_p": null,
"transcript": "XM_011513615.2",
"protein_id": "XP_011511917.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1171,
"cds_start": null,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513615.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.3145-1866T>C",
"hgvs_p": null,
"transcript": "XM_011513616.3",
"protein_id": "XP_011511918.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1171,
"cds_start": null,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513616.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.3100-1866T>C",
"hgvs_p": null,
"transcript": "XM_047449508.1",
"protein_id": "XP_047305464.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1156,
"cds_start": null,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449508.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "c.2653-1866T>C",
"hgvs_p": null,
"transcript": "XM_047449509.1",
"protein_id": "XP_047305465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1007,
"cds_start": null,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449509.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"hgvs_c": "n.*405-1866T>C",
"hgvs_p": null,
"transcript": "ENST00000506602.5",
"protein_id": "ENSP00000421164.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000506602.5"
}
],
"gene_symbol": "ATP8A1",
"gene_hgnc_id": 13531,
"dbsnp": "rs10019985",
"frequency_reference_population": 0.37893116,
"hom_count_reference_population": 11167,
"allele_count_reference_population": 57377,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.378931,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 57377,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 11167,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.363,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_006095.2",
"gene_symbol": "ATP8A1",
"hgnc_id": 13531,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3124-1866T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}