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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: 19-1811604-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1811604&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1811604,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000310127.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B3",
"gene_hgnc_id": 13535,
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Gly45Arg",
"transcript": "NM_138813.4",
"protein_id": "NP_620168.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 1300,
"cds_start": 133,
"cds_end": null,
"cds_length": 3903,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": "ENST00000310127.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B3",
"gene_hgnc_id": 13535,
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Gly45Arg",
"transcript": "ENST00000310127.10",
"protein_id": "ENSP00000311336.6",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 1300,
"cds_start": 133,
"cds_end": null,
"cds_length": 3903,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": "NM_138813.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B3",
"gene_hgnc_id": 13535,
"hgvs_c": "c.-27G>A",
"hgvs_p": null,
"transcript": "ENST00000525591.5",
"protein_id": "ENSP00000437115.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1263,
"cds_start": -4,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B3",
"gene_hgnc_id": 13535,
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Gly45Arg",
"transcript": "ENST00000587160.2",
"protein_id": "ENSP00000465027.2",
"transcript_support_level": 5,
"aa_start": 45,
"aa_end": null,
"aa_length": 204,
"cds_start": 133,
"cds_end": null,
"cds_length": 615,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B3",
"gene_hgnc_id": 13535,
"hgvs_c": "n.133G>A",
"hgvs_p": null,
"transcript": "ENST00000531925.5",
"protein_id": "ENSP00000444334.1",
"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": 5237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B3",
"gene_hgnc_id": 13535,
"hgvs_c": "n.21G>A",
"hgvs_p": null,
"transcript": "ENST00000533993.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B3",
"gene_hgnc_id": 13535,
"hgvs_c": "n.372G>A",
"hgvs_p": null,
"transcript": "NR_047593.3",
"protein_id": null,
"transcript_support_level": null,
"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": 5239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B3",
"gene_hgnc_id": 13535,
"hgvs_c": "c.-27G>A",
"hgvs_p": null,
"transcript": "NM_001178002.3",
"protein_id": "NP_001171473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1263,
"cds_start": -4,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP8B3",
"gene_hgnc_id": 13535,
"hgvs_c": "c.-27G>A",
"hgvs_p": null,
"transcript": "ENST00000526092.6",
"protein_id": "ENSP00000445204.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": -4,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATP8B3",
"gene_hgnc_id": 13535,
"dbsnp": "rs7250872",
"frequency_reference_population": 0.3199445,
"hom_count_reference_population": 85421,
"allele_count_reference_population": 515652,
"gnomad_exomes_af": 0.314615,
"gnomad_genomes_af": 0.371085,
"gnomad_exomes_ac": 459207,
"gnomad_genomes_ac": 56445,
"gnomad_exomes_homalt": 74557,
"gnomad_genomes_homalt": 10864,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0003577768802642822,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.116,
"revel_prediction": "Benign",
"alphamissense_score": 0.1349,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.065,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": "ENST00000310127.10",
"gene_symbol": "ATP8B3",
"hgnc_id": 13535,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.133G>A",
"hgvs_p": "p.Gly45Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}