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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: 19-50634403-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50634403&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 50634403,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_032298.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null,
"transcript": "NM_001160329.2",
"protein_id": "NP_001153801.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000600079.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160329.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null,
"transcript": "ENST00000600079.6",
"protein_id": "ENSP00000469398.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001160329.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600079.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null,
"transcript": "ENST00000338916.8",
"protein_id": "ENSP00000340914.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338916.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null,
"transcript": "ENST00000593901.5",
"protein_id": "ENSP00000468982.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593901.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null,
"transcript": "NM_001160328.2",
"protein_id": "NP_001153800.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160328.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null,
"transcript": "NM_001424344.1",
"protein_id": "NP_001411273.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424344.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null,
"transcript": "NM_001424345.1",
"protein_id": "NP_001411274.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424345.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null,
"transcript": "NM_001424346.1",
"protein_id": "NP_001411275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424346.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null,
"transcript": "NM_032298.3",
"protein_id": "NP_115674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032298.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null,
"transcript": "ENST00000897663.1",
"protein_id": "ENSP00000567722.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897663.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null,
"transcript": "ENST00000897664.1",
"protein_id": "ENSP00000567723.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897664.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null,
"transcript": "ENST00000897665.1",
"protein_id": "ENSP00000567724.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897665.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null,
"transcript": "ENST00000897666.1",
"protein_id": "ENSP00000567725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897666.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null,
"transcript": "ENST00000936903.1",
"protein_id": "ENSP00000606962.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
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"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936903.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null,
"transcript": "ENST00000936904.1",
"protein_id": "ENSP00000606963.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936904.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null,
"transcript": "ENST00000936905.1",
"protein_id": "ENSP00000606964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936905.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null,
"transcript": "ENST00000936906.1",
"protein_id": "ENSP00000606965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936906.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null,
"transcript": "ENST00000936907.1",
"protein_id": "ENSP00000606966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936907.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null,
"transcript": "ENST00000964191.1",
"protein_id": "ENSP00000634250.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964191.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null,
"transcript": "ENST00000598997.1",
"protein_id": "ENSP00000469637.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 95,
"cds_start": null,
"cds_end": null,
"cds_length": 289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598997.1"
}
],
"gene_symbol": "SYT3",
"gene_hgnc_id": 11511,
"dbsnp": "rs2387137",
"frequency_reference_population": 0.8166384,
"hom_count_reference_population": 51900,
"allele_count_reference_population": 124245,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.816638,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 124245,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 51900,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"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": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.475,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_032298.3",
"gene_symbol": "SYT3",
"hgnc_id": 11511,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.149-1592G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}