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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: 15-29054310-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=29054310&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "APBA2",
"hgnc_id": 579,
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Thr142Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_005503.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS2",
"acmg_score": -10,
"allele_count_reference_population": 57,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"chr": "15",
"clinvar_classification": "Likely benign",
"clinvar_disease": "APBA2-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7400000095367432,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 749,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3941,
"cdna_start": 935,
"cds_end": null,
"cds_length": 2250,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001353788.2",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Thr142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000683413.1",
"protein_coding": true,
"protein_id": "NP_001340717.1",
"strand": true,
"transcript": "NM_001353788.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 749,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3941,
"cdna_start": 935,
"cds_end": null,
"cds_length": 2250,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000683413.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Thr142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001353788.2",
"protein_coding": true,
"protein_id": "ENSP00000507394.1",
"strand": true,
"transcript": "ENST00000683413.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 749,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3635,
"cdna_start": 633,
"cds_end": null,
"cds_length": 2250,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000558259.5",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Thr142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454171.1",
"strand": true,
"transcript": "ENST00000558259.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 737,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3599,
"cdna_start": 633,
"cds_end": null,
"cds_length": 2214,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000411764.5",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Thr142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409312.1",
"strand": true,
"transcript": "ENST00000411764.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2555,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000559814.5",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "n.749G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000559814.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 801,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3350,
"cdna_start": 794,
"cds_end": null,
"cds_length": 2406,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000852561.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Thr142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522620.1",
"strand": true,
"transcript": "ENST00000852561.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 801,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3262,
"cdna_start": 708,
"cds_end": null,
"cds_length": 2406,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000941655.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Thr142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611714.1",
"strand": true,
"transcript": "ENST00000941655.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 791,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3209,
"cdna_start": 675,
"cds_end": null,
"cds_length": 2376,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000852567.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Thr142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522626.1",
"strand": true,
"transcript": "ENST00000852567.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 790,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3271,
"cdna_start": 746,
"cds_end": null,
"cds_length": 2373,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000852565.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Thr142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522624.1",
"strand": true,
"transcript": "ENST00000852565.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 789,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3391,
"cdna_start": 858,
"cds_end": null,
"cds_length": 2370,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000852560.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Thr142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522619.1",
"strand": true,
"transcript": "ENST00000852560.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 789,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3421,
"cdna_start": 901,
"cds_end": null,
"cds_length": 2370,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000852564.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Thr142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522623.1",
"strand": true,
"transcript": "ENST00000852564.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 789,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3455,
"cdna_start": 935,
"cds_end": null,
"cds_length": 2370,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000923490.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Thr142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593549.1",
"strand": true,
"transcript": "ENST00000923490.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 778,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3999,
"cdna_start": 906,
"cds_end": null,
"cds_length": 2337,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000852548.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Thr142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522607.1",
"strand": true,
"transcript": "ENST00000852548.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 777,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3998,
"cdna_start": 906,
"cds_end": null,
"cds_length": 2334,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000852545.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Thr142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522604.1",
"strand": true,
"transcript": "ENST00000852545.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 765,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3342,
"cdna_start": 897,
"cds_end": null,
"cds_length": 2298,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000941654.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Thr142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611713.1",
"strand": true,
"transcript": "ENST00000941654.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 751,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3886,
"cdna_start": 874,
"cds_end": null,
"cds_length": 2256,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000852553.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Thr142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522612.1",
"strand": true,
"transcript": "ENST00000852553.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 751,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3830,
"cdna_start": 824,
"cds_end": null,
"cds_length": 2256,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000852557.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Thr142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522616.1",
"strand": true,
"transcript": "ENST00000852557.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 751,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3807,
"cdna_start": 795,
"cds_end": null,
"cds_length": 2256,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000941649.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Thr142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611708.1",
"strand": true,
"transcript": "ENST00000941649.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 751,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3878,
"cdna_start": 870,
"cds_end": null,
"cds_length": 2256,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000941651.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Thr142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611710.1",
"strand": true,
"transcript": "ENST00000941651.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 751,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3736,
"cdna_start": 730,
"cds_end": null,
"cds_length": 2256,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000941652.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.426G>A",
"hgvs_p": "p.Thr142Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611711.1",
"strand": true,
"transcript": "ENST00000941652.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 751,
"aa_ref": "T",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3388,
"cdna_start": 970,
"cds_end": null,
"cds_length": 2256,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000941657.1",
"gene_hgnc_id": 579,
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"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs201879619",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000035314803,
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"gnomad_exomes_ac": 53,
"gnomad_exomes_af": 0.0000362567,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 4,
"gnomad_genomes_af": 0.0000262715,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "APBA2-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": -3.751,
"pos": 29054310,
"ref": "G",
"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_005503.3"
}
]
}