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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: 17-1783036-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=1783036&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 1783036,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_052928.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD4",
"gene_hgnc_id": 21067,
"hgvs_c": "c.2260G>A",
"hgvs_p": "p.Gly754Arg",
"transcript": "NM_052928.3",
"protein_id": "NP_443160.2",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 804,
"cds_start": 2260,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000305513.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052928.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD4",
"gene_hgnc_id": 21067,
"hgvs_c": "c.2260G>A",
"hgvs_p": "p.Gly754Arg",
"transcript": "ENST00000305513.12",
"protein_id": "ENSP00000304360.7",
"transcript_support_level": 1,
"aa_start": 754,
"aa_end": null,
"aa_length": 804,
"cds_start": 2260,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052928.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305513.12"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD4",
"gene_hgnc_id": 21067,
"hgvs_c": "c.1672G>A",
"hgvs_p": "p.Gly558Arg",
"transcript": "ENST00000491788.1",
"protein_id": "ENSP00000460921.1",
"transcript_support_level": 2,
"aa_start": 558,
"aa_end": null,
"aa_length": 558,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491788.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD4",
"gene_hgnc_id": 21067,
"hgvs_c": "c.2260G>A",
"hgvs_p": "p.Gly754Arg",
"transcript": "XM_047435290.1",
"protein_id": "XP_047291246.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 754,
"cds_start": 2260,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435290.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD4",
"gene_hgnc_id": 21067,
"hgvs_c": "c.2260G>A",
"hgvs_p": "p.Gly754Arg",
"transcript": "ENST00000954772.1",
"protein_id": "ENSP00000624831.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 804,
"cds_start": 2260,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954772.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD4",
"gene_hgnc_id": 21067,
"hgvs_c": "c.2260G>A",
"hgvs_p": "p.Gly754Arg",
"transcript": "ENST00000954774.1",
"protein_id": "ENSP00000624833.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 804,
"cds_start": 2260,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954774.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD4",
"gene_hgnc_id": 21067,
"hgvs_c": "c.2179G>A",
"hgvs_p": "p.Gly727Arg",
"transcript": "ENST00000954773.1",
"protein_id": "ENSP00000624832.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 777,
"cds_start": 2179,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954773.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD4",
"gene_hgnc_id": 21067,
"hgvs_c": "c.2170G>A",
"hgvs_p": "p.Gly724Arg",
"transcript": "ENST00000862287.1",
"protein_id": "ENSP00000532346.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 774,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862287.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD4",
"gene_hgnc_id": 21067,
"hgvs_c": "c.2077G>A",
"hgvs_p": "p.Gly693Arg",
"transcript": "ENST00000954771.1",
"protein_id": "ENSP00000624830.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 743,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954771.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD4",
"gene_hgnc_id": 21067,
"hgvs_c": "c.2260G>A",
"hgvs_p": "p.Gly754Arg",
"transcript": "XM_024450560.2",
"protein_id": "XP_024306328.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 804,
"cds_start": 2260,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450560.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD4",
"gene_hgnc_id": 21067,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Gly650Arg",
"transcript": "XM_047435291.1",
"protein_id": "XP_047291247.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 700,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435291.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMYD4",
"gene_hgnc_id": 21067,
"hgvs_c": "n.*74G>A",
"hgvs_p": null,
"transcript": "ENST00000476292.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000476292.1"
}
],
"gene_symbol": "SMYD4",
"gene_hgnc_id": 21067,
"dbsnp": "rs141269002",
"frequency_reference_population": 0.000018591254,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000143686,
"gnomad_genomes_af": 0.0000591568,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6949899196624756,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.30000001192092896,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.471,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7543,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.693,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.165106099104875,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_052928.3",
"gene_symbol": "SMYD4",
"hgnc_id": 21067,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2260G>A",
"hgvs_p": "p.Gly754Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}