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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: 4-112904538-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=112904538&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 112904538,
"ref": "A",
"alt": "G",
"effect": "non_coding_transcript_exon_variant",
"transcript": "ENST00000683180.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.21+24A>G",
"hgvs_p": null,
"transcript": "ENST00000506722.5",
"protein_id": "ENSP00000421067.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1863,
"cds_start": -4,
"cds_end": null,
"cds_length": 5592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8051,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "n.227A>G",
"hgvs_p": null,
"transcript": "ENST00000683180.1",
"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": 2197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.21+24A>G",
"hgvs_p": null,
"transcript": "ENST00000672209.1",
"protein_id": "ENSP00000499982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3995,
"cds_start": -4,
"cds_end": null,
"cds_length": 11988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.21+24A>G",
"hgvs_p": null,
"transcript": "ENST00000673298.1",
"protein_id": "ENSP00000500245.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3964,
"cds_start": -4,
"cds_end": null,
"cds_length": 11895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.21+24A>G",
"hgvs_p": null,
"transcript": "ENST00000503423.6",
"protein_id": "ENSP00000421011.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3961,
"cds_start": -4,
"cds_end": null,
"cds_length": 11886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.21+24A>G",
"hgvs_p": null,
"transcript": "NM_001386142.1",
"protein_id": "NP_001373071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3940,
"cds_start": -4,
"cds_end": null,
"cds_length": 11823,
"cdna_start": null,
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"cdna_length": 14287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.21+24A>G",
"hgvs_p": null,
"transcript": "ENST00000672830.1",
"protein_id": "ENSP00000500222.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 3936,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.21+24A>G",
"hgvs_p": null,
"transcript": "ENST00000672068.1",
"protein_id": "ENSP00000499902.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3934,
"cds_start": -4,
"cds_end": null,
"cds_length": 11805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.21+24A>G",
"hgvs_p": null,
"transcript": "ENST00000671809.1",
"protein_id": "ENSP00000500872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3915,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "ANK2",
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"transcript": "ENST00000672090.1",
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{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "ANK2",
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"transcript": "ENST00000671906.1",
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],
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],
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 35,
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"transcript": "ENST00000683310.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
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"gene_symbol": "ANK2",
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"transcript": "ENST00000683360.1",
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},
{
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"protein_coding": false,
"strand": true,
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"intron_variant"
],
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"exon_count": 3,
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"gene_symbol": "ANK2",
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"transcript": "ENST00000683464.1",
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},
{
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"protein_coding": false,
"strand": true,
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"intron_variant"
],
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"exon_count": 8,
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"gene_symbol": "ANK2",
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"transcript": "ENST00000684681.1",
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},
{
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"intron_variant"
],
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"exon_count": 7,
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"gene_symbol": "ANK2",
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"transcript": "ENST00000684727.1",
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"feature": null
}
],
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"dbsnp": "rs76764953",
"frequency_reference_population": 0.0014586948,
"hom_count_reference_population": 17,
"allele_count_reference_population": 2107,
"gnomad_exomes_af": 0.000755341,
"gnomad_genomes_af": 0.00742565,
"gnomad_exomes_ac": 976,
"gnomad_genomes_ac": 1131,
"gnomad_exomes_homalt": 9,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.157,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000683180.1",
"gene_symbol": "ANK2",
"hgnc_id": 493,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "n.227A>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}