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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: 17-1781439-CCT-GCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=1781439&ref=CCT&alt=GCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"gene_symbol": "SMYD4",
"hgnc_id": 21067,
"hgvs_c": "c.2262-2_2262delAGGinsCGC",
"hgvs_p": "p.755",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_052928.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 804,
"aa_ref": "G",
"aa_start": 754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4405,
"cdna_start": 2451,
"cds_end": null,
"cds_length": 2415,
"cds_start": 2262,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_052928.3",
"gene_hgnc_id": 21067,
"gene_symbol": "SMYD4",
"hgvs_c": "c.2262-2_2262delAGGinsCGC",
"hgvs_p": "p.755",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000305513.12",
"protein_coding": true,
"protein_id": "NP_443160.2",
"strand": false,
"transcript": "NM_052928.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 804,
"aa_ref": "G",
"aa_start": 754,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4405,
"cdna_start": 2451,
"cds_end": null,
"cds_length": 2415,
"cds_start": 2262,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000305513.12",
"gene_hgnc_id": 21067,
"gene_symbol": "SMYD4",
"hgvs_c": "c.2262-2_2262delAGGinsCGC",
"hgvs_p": "p.755",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_052928.3",
"protein_coding": true,
"protein_id": "ENSP00000304360.7",
"strand": false,
"transcript": "ENST00000305513.12",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 804,
"aa_ref": "G",
"aa_start": 754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2889,
"cdna_start": 2388,
"cds_end": null,
"cds_length": 2415,
"cds_start": 2262,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954772.1",
"gene_hgnc_id": 21067,
"gene_symbol": "SMYD4",
"hgvs_c": "c.2262-2_2262delAGGinsCGC",
"hgvs_p": "p.755",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624831.1",
"strand": false,
"transcript": "ENST00000954772.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 804,
"aa_ref": "G",
"aa_start": 754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 2411,
"cds_end": null,
"cds_length": 2415,
"cds_start": 2262,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954774.1",
"gene_hgnc_id": 21067,
"gene_symbol": "SMYD4",
"hgvs_c": "c.2262-2_2262delAGGinsCGC",
"hgvs_p": "p.755",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624833.1",
"strand": false,
"transcript": "ENST00000954774.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 777,
"aa_ref": "G",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2675,
"cdna_start": 2337,
"cds_end": null,
"cds_length": 2334,
"cds_start": 2181,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954773.1",
"gene_hgnc_id": 21067,
"gene_symbol": "SMYD4",
"hgvs_c": "c.2181-2_2181delAGGinsCGC",
"hgvs_p": "p.728",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624832.1",
"strand": false,
"transcript": "ENST00000954773.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 774,
"aa_ref": "G",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4257,
"cdna_start": 2372,
"cds_end": null,
"cds_length": 2325,
"cds_start": 2172,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862287.1",
"gene_hgnc_id": 21067,
"gene_symbol": "SMYD4",
"hgvs_c": "c.2172-2_2172delAGGinsCGC",
"hgvs_p": "p.725",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532346.1",
"strand": false,
"transcript": "ENST00000862287.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 743,
"aa_ref": "G",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2900,
"cdna_start": 2206,
"cds_end": null,
"cds_length": 2232,
"cds_start": 2079,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954771.1",
"gene_hgnc_id": 21067,
"gene_symbol": "SMYD4",
"hgvs_c": "c.2079-2_2079delAGGinsCGC",
"hgvs_p": "p.694",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624830.1",
"strand": false,
"transcript": "ENST00000954771.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 804,
"aa_ref": "G",
"aa_start": 754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4782,
"cdna_start": 2828,
"cds_end": null,
"cds_length": 2415,
"cds_start": 2262,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_024450560.2",
"gene_hgnc_id": 21067,
"gene_symbol": "SMYD4",
"hgvs_c": "c.2262-2_2262delAGGinsCGC",
"hgvs_p": "p.755",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306328.1",
"strand": false,
"transcript": "XM_024450560.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 700,
"aa_ref": "G",
"aa_start": 650,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4100,
"cdna_start": 2146,
"cds_end": null,
"cds_length": 2103,
"cds_start": 1950,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"synonymous_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435291.1",
"gene_hgnc_id": 21067,
"gene_symbol": "SMYD4",
"hgvs_c": "c.1950-2_1950delAGGinsCGC",
"hgvs_p": "p.651",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291247.1",
"strand": false,
"transcript": "XM_047435291.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "splice_acceptor_variant,splice_region_variant,synonymous_variant,intron_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 21067,
"gene_symbol": "SMYD4",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.473,
"pos": 1781439,
"ref": "CCT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_052928.3"
}
]
}