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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: 15-29106717-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=29106717&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 29106717,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000683413.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"transcript": "NM_001353788.2",
"protein_id": "NP_001340717.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 749,
"cds_start": 1815,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 3941,
"mane_select": "ENST00000683413.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"transcript": "ENST00000683413.1",
"protein_id": "ENSP00000507394.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 749,
"cds_start": 1815,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 3941,
"mane_select": "NM_001353788.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"transcript": "ENST00000558259.5",
"protein_id": "ENSP00000454171.1",
"transcript_support_level": 1,
"aa_start": 605,
"aa_end": null,
"aa_length": 749,
"cds_start": 1815,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.1779G>A",
"hgvs_p": "p.Pro593Pro",
"transcript": "ENST00000411764.5",
"protein_id": "ENSP00000409312.1",
"transcript_support_level": 1,
"aa_start": 593,
"aa_end": null,
"aa_length": 737,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 3599,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "n.2102G>A",
"hgvs_p": null,
"transcript": "ENST00000559814.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"transcript": "NM_001353789.2",
"protein_id": "NP_001340718.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 749,
"cds_start": 1815,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2293,
"cdna_end": null,
"cdna_length": 3910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"transcript": "NM_001353790.2",
"protein_id": "NP_001340719.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 749,
"cds_start": 1815,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2470,
"cdna_end": null,
"cdna_length": 4087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"transcript": "NM_001353791.2",
"protein_id": "NP_001340720.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 749,
"cds_start": 1815,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2160,
"cdna_end": null,
"cdna_length": 3777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"transcript": "NM_001379685.1",
"protein_id": "NP_001366614.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 749,
"cds_start": 1815,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 4031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"transcript": "NM_005503.3",
"protein_id": "NP_005494.2",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 749,
"cds_start": 1815,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 3639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"transcript": "ENST00000558402.5",
"protein_id": "ENSP00000453293.1",
"transcript_support_level": 5,
"aa_start": 605,
"aa_end": null,
"aa_length": 749,
"cds_start": 1815,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 4031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"transcript": "ENST00000561069.5",
"protein_id": "ENSP00000453144.1",
"transcript_support_level": 5,
"aa_start": 605,
"aa_end": null,
"aa_length": 749,
"cds_start": 1815,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2119,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.1779G>A",
"hgvs_p": "p.Pro593Pro",
"transcript": "NM_001130414.1",
"protein_id": "NP_001123886.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 737,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 3603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.1779G>A",
"hgvs_p": "p.Pro593Pro",
"transcript": "NM_001353792.2",
"protein_id": "NP_001340721.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 737,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 3905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.1779G>A",
"hgvs_p": "p.Pro593Pro",
"transcript": "NM_001353793.2",
"protein_id": "NP_001340722.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 737,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2124,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.1779G>A",
"hgvs_p": "p.Pro593Pro",
"transcript": "NM_001353794.2",
"protein_id": "NP_001340723.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 737,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1987,
"cdna_end": null,
"cdna_length": 3604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.1779G>A",
"hgvs_p": "p.Pro593Pro",
"transcript": "ENST00000558330.5",
"protein_id": "ENSP00000452722.1",
"transcript_support_level": 2,
"aa_start": 593,
"aa_end": null,
"aa_length": 737,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2330,
"cdna_end": null,
"cdna_length": 3349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"transcript": "NM_001353795.2",
"protein_id": "NP_001340724.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 702,
"cds_start": 1815,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 2903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.927G>A",
"hgvs_p": "p.Pro309Pro",
"transcript": "NM_001353796.2",
"protein_id": "NP_001340725.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 453,
"cds_start": 927,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.891G>A",
"hgvs_p": "p.Pro297Pro",
"transcript": "NM_001353797.2",
"protein_id": "NP_001340726.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 441,
"cds_start": 891,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"transcript": "XM_011521488.4",
"protein_id": "XP_011519790.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 749,
"cds_start": 1815,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2082,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro",
"transcript": "XM_011521489.3",
"protein_id": "XP_011519791.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 749,
"cds_start": 1815,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 4131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APBA2",
"gene_hgnc_id": 579,
"hgvs_c": "c.1815G>A",
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"gene_hgnc_id": 579,
"dbsnp": "rs140055297",
"frequency_reference_population": 0.0063839154,
"hom_count_reference_population": 42,
"allele_count_reference_population": 10297,
"gnomad_exomes_af": 0.00649049,
"gnomad_genomes_af": 0.00536108,
"gnomad_exomes_ac": 9481,
"gnomad_genomes_ac": 816,
"gnomad_exomes_homalt": 37,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"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": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.128,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000683413.1",
"gene_symbol": "APBA2",
"hgnc_id": 579,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1815G>A",
"hgvs_p": "p.Pro605Pro"
}
],
"clinvar_disease": "APBA2-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "not specified|APBA2-related disorder|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}