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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: 2-69509339-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=69509339&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 69509339,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000409085.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAK1",
"gene_hgnc_id": 19679,
"hgvs_c": "c.1898G>A",
"hgvs_p": "p.Arg633Lys",
"transcript": "NM_014911.5",
"protein_id": "NP_055726.4",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 961,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 21157,
"mane_select": "ENST00000409085.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAK1",
"gene_hgnc_id": 19679,
"hgvs_c": "c.1898G>A",
"hgvs_p": "p.Arg633Lys",
"transcript": "ENST00000409085.9",
"protein_id": "ENSP00000386456.3",
"transcript_support_level": 5,
"aa_start": 633,
"aa_end": null,
"aa_length": 961,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 21157,
"mane_select": "NM_014911.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAK1",
"gene_hgnc_id": 19679,
"hgvs_c": "c.1898G>A",
"hgvs_p": "p.Arg633Lys",
"transcript": "ENST00000406297.7",
"protein_id": "ENSP00000385181.3",
"transcript_support_level": 1,
"aa_start": 633,
"aa_end": null,
"aa_length": 863,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 2275,
"cdna_end": null,
"cdna_length": 4499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAK1",
"gene_hgnc_id": 19679,
"hgvs_c": "c.1898G>A",
"hgvs_p": "p.Arg633Lys",
"transcript": "ENST00000606389.8",
"protein_id": "ENSP00000485350.2",
"transcript_support_level": 5,
"aa_start": 633,
"aa_end": null,
"aa_length": 1163,
"cds_start": 1898,
"cds_end": null,
"cds_length": 3492,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 11319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAK1",
"gene_hgnc_id": 19679,
"hgvs_c": "c.1901G>A",
"hgvs_p": "p.Arg634Lys",
"transcript": "NM_001426745.1",
"protein_id": "NP_001413674.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 1132,
"cds_start": 1901,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 2300,
"cdna_end": null,
"cdna_length": 11226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAK1",
"gene_hgnc_id": 19679,
"hgvs_c": "c.1898G>A",
"hgvs_p": "p.Arg633Lys",
"transcript": "NM_001426746.1",
"protein_id": "NP_001413675.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 1131,
"cds_start": 1898,
"cds_end": null,
"cds_length": 3396,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 11223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAK1",
"gene_hgnc_id": 19679,
"hgvs_c": "c.1898G>A",
"hgvs_p": "p.Arg633Lys",
"transcript": "NM_001371575.1",
"protein_id": "NP_001358504.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 922,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 21039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAK1",
"gene_hgnc_id": 19679,
"hgvs_c": "c.1898G>A",
"hgvs_p": "p.Arg633Lys",
"transcript": "NM_001371577.1",
"protein_id": "NP_001358506.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 674,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 6094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAK1",
"gene_hgnc_id": 19679,
"hgvs_c": "c.1898G>A",
"hgvs_p": "p.Arg633Lys",
"transcript": "ENST00000409068.5",
"protein_id": "ENSP00000386342.1",
"transcript_support_level": 2,
"aa_start": 633,
"aa_end": null,
"aa_length": 674,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 2212,
"cdna_end": null,
"cdna_length": 2606,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAK1",
"gene_hgnc_id": 19679,
"hgvs_c": "n.155G>A",
"hgvs_p": null,
"transcript": "ENST00000489327.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAK1",
"gene_hgnc_id": 19679,
"hgvs_c": "c.-59G>A",
"hgvs_p": null,
"transcript": "ENST00000623317.3",
"protein_id": "ENSP00000485296.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": -4,
"cds_end": null,
"cds_length": 1019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAK1",
"gene_hgnc_id": 19679,
"hgvs_c": "c.-77G>A",
"hgvs_p": null,
"transcript": "ENST00000624900.1",
"protein_id": "ENSP00000485409.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": -4,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AAK1",
"gene_hgnc_id": 19679,
"dbsnp": "rs1480436162",
"frequency_reference_population": 0.0000065695253,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656953,
"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": 0.25548478960990906,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.148,
"revel_prediction": "Benign",
"alphamissense_score": 0.771,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.485,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000409085.9",
"gene_symbol": "AAK1",
"hgnc_id": 19679,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1898G>A",
"hgvs_p": "p.Arg633Lys"
}
],
"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
}