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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: 19-47072459-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=47072459&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 47072459,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000253048.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H4",
"gene_hgnc_id": 17808,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Leu565Leu",
"transcript": "NM_015168.2",
"protein_id": "NP_055983.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 1303,
"cds_start": 1695,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 1757,
"cdna_end": null,
"cdna_length": 6143,
"mane_select": "ENST00000253048.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H4",
"gene_hgnc_id": 17808,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Leu565Leu",
"transcript": "ENST00000253048.10",
"protein_id": "ENSP00000253048.4",
"transcript_support_level": 1,
"aa_start": 565,
"aa_end": null,
"aa_length": 1303,
"cds_start": 1695,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 1757,
"cdna_end": null,
"cdna_length": 6143,
"mane_select": "NM_015168.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H4",
"gene_hgnc_id": 17808,
"hgvs_c": "c.765G>A",
"hgvs_p": "p.Leu255Leu",
"transcript": "ENST00000601973.1",
"protein_id": "ENSP00000469684.1",
"transcript_support_level": 5,
"aa_start": 255,
"aa_end": null,
"aa_length": 909,
"cds_start": 765,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H4",
"gene_hgnc_id": 17808,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Leu565Leu",
"transcript": "XM_006723113.4",
"protein_id": "XP_006723176.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 1303,
"cds_start": 1695,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 2763,
"cdna_end": null,
"cdna_length": 7149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H4",
"gene_hgnc_id": 17808,
"hgvs_c": "c.1587G>A",
"hgvs_p": "p.Leu529Leu",
"transcript": "XM_005258676.4",
"protein_id": "XP_005258733.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 1267,
"cds_start": 1587,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 4580,
"cdna_end": null,
"cdna_length": 8966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H4",
"gene_hgnc_id": 17808,
"hgvs_c": "c.1572G>A",
"hgvs_p": "p.Leu524Leu",
"transcript": "XM_005258677.5",
"protein_id": "XP_005258734.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1572,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 1707,
"cdna_end": null,
"cdna_length": 6093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H4",
"gene_hgnc_id": 17808,
"hgvs_c": "c.1572G>A",
"hgvs_p": "p.Leu524Leu",
"transcript": "XM_011526668.4",
"protein_id": "XP_011524970.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1572,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 6117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H4",
"gene_hgnc_id": 17808,
"hgvs_c": "c.1557G>A",
"hgvs_p": "p.Leu519Leu",
"transcript": "XM_011526669.4",
"protein_id": "XP_011524971.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 1257,
"cds_start": 1557,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 6156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H4",
"gene_hgnc_id": 17808,
"hgvs_c": "c.1548G>A",
"hgvs_p": "p.Leu516Leu",
"transcript": "XM_005258678.3",
"protein_id": "XP_005258735.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 1254,
"cds_start": 1548,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 6031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H4",
"gene_hgnc_id": 17808,
"hgvs_c": "c.1545G>A",
"hgvs_p": "p.Leu515Leu",
"transcript": "XM_011526670.4",
"protein_id": "XP_011524972.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 1253,
"cds_start": 1545,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 1987,
"cdna_end": null,
"cdna_length": 6373,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H4",
"gene_hgnc_id": 17808,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Leu565Leu",
"transcript": "XM_017026530.3",
"protein_id": "XP_016882019.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 1219,
"cds_start": 1695,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 2763,
"cdna_end": null,
"cdna_length": 6897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H4",
"gene_hgnc_id": 17808,
"hgvs_c": "c.1587G>A",
"hgvs_p": "p.Leu529Leu",
"transcript": "XM_047438514.1",
"protein_id": "XP_047294470.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 1183,
"cds_start": 1587,
"cds_end": null,
"cds_length": 3552,
"cdna_start": 4580,
"cdna_end": null,
"cdna_length": 8714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H4",
"gene_hgnc_id": 17808,
"hgvs_c": "c.1557G>A",
"hgvs_p": "p.Leu519Leu",
"transcript": "XM_047438515.1",
"protein_id": "XP_047294471.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 1173,
"cds_start": 1557,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 5904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H4",
"gene_hgnc_id": 17808,
"hgvs_c": "c.1548G>A",
"hgvs_p": "p.Leu516Leu",
"transcript": "XM_047438516.1",
"protein_id": "XP_047294472.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 1170,
"cds_start": 1548,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H4",
"gene_hgnc_id": 17808,
"hgvs_c": "c.1143G>A",
"hgvs_p": "p.Leu381Leu",
"transcript": "XM_047438517.1",
"protein_id": "XP_047294473.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 1119,
"cds_start": 1143,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 2597,
"cdna_end": null,
"cdna_length": 6983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H4",
"gene_hgnc_id": 17808,
"hgvs_c": "c.804G>A",
"hgvs_p": "p.Leu268Leu",
"transcript": "XM_047438518.1",
"protein_id": "XP_047294474.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 1006,
"cds_start": 804,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 5300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZC3H4",
"gene_hgnc_id": 17808,
"hgvs_c": "n.797-5138G>A",
"hgvs_p": null,
"transcript": "ENST00000594019.5",
"protein_id": null,
"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": 3259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZC3H4",
"gene_hgnc_id": 17808,
"dbsnp": "rs3745618",
"frequency_reference_population": 0.000041808667,
"hom_count_reference_population": 0,
"allele_count_reference_population": 66,
"gnomad_exomes_af": 0.0000403613,
"gnomad_genomes_af": 0.0000564972,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.41999998688697815,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.807,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000253048.10",
"gene_symbol": "ZC3H4",
"hgnc_id": 17808,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Leu565Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}