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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: 14-95439037-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=95439037&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 95439037,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152592.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE3",
"gene_hgnc_id": 19861,
"hgvs_c": "c.2372G>A",
"hgvs_p": "p.Arg791Gln",
"transcript": "NM_152592.6",
"protein_id": "NP_689805.3",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 975,
"cds_start": 2372,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682763.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152592.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE3",
"gene_hgnc_id": 19861,
"hgvs_c": "c.2372G>A",
"hgvs_p": "p.Arg791Gln",
"transcript": "ENST00000682763.1",
"protein_id": "ENSP00000507501.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 975,
"cds_start": 2372,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152592.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682763.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE3",
"gene_hgnc_id": 19861,
"hgvs_c": "c.2372G>A",
"hgvs_p": "p.Arg791Gln",
"transcript": "ENST00000334258.9",
"protein_id": "ENSP00000334308.4",
"transcript_support_level": 1,
"aa_start": 791,
"aa_end": null,
"aa_length": 975,
"cds_start": 2372,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334258.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE3",
"gene_hgnc_id": 19861,
"hgvs_c": "c.2372G>A",
"hgvs_p": "p.Arg791Gln",
"transcript": "ENST00000965390.1",
"protein_id": "ENSP00000635449.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 975,
"cds_start": 2372,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965390.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE3",
"gene_hgnc_id": 19861,
"hgvs_c": "c.2369G>A",
"hgvs_p": "p.Arg790Gln",
"transcript": "ENST00000965385.1",
"protein_id": "ENSP00000635444.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 974,
"cds_start": 2369,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965385.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE3",
"gene_hgnc_id": 19861,
"hgvs_c": "c.2378G>A",
"hgvs_p": "p.Arg793Gln",
"transcript": "ENST00000965386.1",
"protein_id": "ENSP00000635445.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 972,
"cds_start": 2378,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965386.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE3",
"gene_hgnc_id": 19861,
"hgvs_c": "c.2372G>A",
"hgvs_p": "p.Arg791Gln",
"transcript": "NM_001363692.2",
"protein_id": "NP_001350621.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 970,
"cds_start": 2372,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363692.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE3",
"gene_hgnc_id": 19861,
"hgvs_c": "c.2372G>A",
"hgvs_p": "p.Arg791Gln",
"transcript": "ENST00000557275.5",
"protein_id": "ENSP00000450562.1",
"transcript_support_level": 2,
"aa_start": 791,
"aa_end": null,
"aa_length": 970,
"cds_start": 2372,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557275.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE3",
"gene_hgnc_id": 19861,
"hgvs_c": "c.2372G>A",
"hgvs_p": "p.Arg791Gln",
"transcript": "ENST00000908202.1",
"protein_id": "ENSP00000578261.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 970,
"cds_start": 2372,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908202.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE3",
"gene_hgnc_id": 19861,
"hgvs_c": "c.2372G>A",
"hgvs_p": "p.Arg791Gln",
"transcript": "ENST00000908203.1",
"protein_id": "ENSP00000578262.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 970,
"cds_start": 2372,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908203.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE3",
"gene_hgnc_id": 19861,
"hgvs_c": "c.2372G>A",
"hgvs_p": "p.Arg791Gln",
"transcript": "ENST00000965389.1",
"protein_id": "ENSP00000635448.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 970,
"cds_start": 2372,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965389.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE3",
"gene_hgnc_id": 19861,
"hgvs_c": "c.2237G>A",
"hgvs_p": "p.Arg746Gln",
"transcript": "ENST00000965383.1",
"protein_id": "ENSP00000635442.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 930,
"cds_start": 2237,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965383.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE3",
"gene_hgnc_id": 19861,
"hgvs_c": "c.2237G>A",
"hgvs_p": "p.Arg746Gln",
"transcript": "ENST00000965384.1",
"protein_id": "ENSP00000635443.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 925,
"cds_start": 2237,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965384.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE3",
"gene_hgnc_id": 19861,
"hgvs_c": "c.2210G>A",
"hgvs_p": "p.Arg737Gln",
"transcript": "ENST00000965388.1",
"protein_id": "ENSP00000635447.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 921,
"cds_start": 2210,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965388.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE3",
"gene_hgnc_id": 19861,
"hgvs_c": "c.2210G>A",
"hgvs_p": "p.Arg737Gln",
"transcript": "ENST00000965387.1",
"protein_id": "ENSP00000635446.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 916,
"cds_start": 2210,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965387.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE3",
"gene_hgnc_id": 19861,
"hgvs_c": "c.1643G>A",
"hgvs_p": "p.Arg548Gln",
"transcript": "ENST00000554873.5",
"protein_id": "ENSP00000452154.1",
"transcript_support_level": 5,
"aa_start": 548,
"aa_end": null,
"aa_length": 732,
"cds_start": 1643,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554873.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE3",
"gene_hgnc_id": 19861,
"hgvs_c": "n.4258G>A",
"hgvs_p": null,
"transcript": "ENST00000555759.1",
"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": "ENST00000555759.1"
}
],
"gene_symbol": "SYNE3",
"gene_hgnc_id": 19861,
"dbsnp": "rs751335846",
"frequency_reference_population": 0.000074963165,
"hom_count_reference_population": 1,
"allele_count_reference_population": 121,
"gnomad_exomes_af": 0.0000738832,
"gnomad_genomes_af": 0.0000853242,
"gnomad_exomes_ac": 108,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0937146544456482,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.019,
"revel_prediction": "Benign",
"alphamissense_score": 0.0674,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.363,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_152592.6",
"gene_symbol": "SYNE3",
"hgnc_id": 19861,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2372G>A",
"hgvs_p": "p.Arg791Gln"
}
],
"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
}