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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: 3-32541081-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=32541081&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 32541081,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016141.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Leu232Phe",
"transcript": "NM_016141.4",
"protein_id": "NP_057225.2",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 523,
"cds_start": 694,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000273130.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016141.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Leu232Phe",
"transcript": "ENST00000273130.9",
"protein_id": "ENSP00000273130.4",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 523,
"cds_start": 694,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016141.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273130.9"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.775C>T",
"hgvs_p": "p.Leu259Phe",
"transcript": "ENST00000891300.1",
"protein_id": "ENSP00000561359.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 550,
"cds_start": 775,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891300.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Leu232Phe",
"transcript": "ENST00000954370.1",
"protein_id": "ENSP00000624429.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 520,
"cds_start": 694,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954370.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.664C>T",
"hgvs_p": "p.Leu222Phe",
"transcript": "ENST00000954369.1",
"protein_id": "ENSP00000624428.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 513,
"cds_start": 664,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954369.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Leu232Phe",
"transcript": "ENST00000891298.1",
"protein_id": "ENSP00000561357.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 503,
"cds_start": 694,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891298.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.463C>T",
"hgvs_p": "p.Leu155Phe",
"transcript": "ENST00000891299.1",
"protein_id": "ENSP00000561358.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 446,
"cds_start": 463,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891299.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Leu232Phe",
"transcript": "ENST00000918076.1",
"protein_id": "ENSP00000588135.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 409,
"cds_start": 694,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918076.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Phe",
"transcript": "NM_001329135.2",
"protein_id": "NP_001316064.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 407,
"cds_start": 346,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329135.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.346C>T",
"hgvs_p": "p.Leu116Phe",
"transcript": "ENST00000432458.6",
"protein_id": "ENSP00000407279.2",
"transcript_support_level": 2,
"aa_start": 116,
"aa_end": null,
"aa_length": 407,
"cds_start": 346,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432458.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.541C>T",
"hgvs_p": "p.Leu181Phe",
"transcript": "ENST00000413350.5",
"protein_id": "ENSP00000390507.1",
"transcript_support_level": 3,
"aa_start": 181,
"aa_end": null,
"aa_length": 189,
"cds_start": 541,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413350.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "c.256C>T",
"hgvs_p": "p.Leu86Phe",
"transcript": "XM_047448246.1",
"protein_id": "XP_047304202.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 377,
"cds_start": 256,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448246.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"hgvs_c": "n.617C>T",
"hgvs_p": null,
"transcript": "ENST00000481915.5",
"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": "ENST00000481915.5"
}
],
"gene_symbol": "DYNC1LI1",
"gene_hgnc_id": 18745,
"dbsnp": "rs776142443",
"frequency_reference_population": 0.000008895263,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000889526,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6286733150482178,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.465,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3403,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.767,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.07,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_016141.4",
"gene_symbol": "DYNC1LI1",
"hgnc_id": 18745,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Leu232Phe"
}
],
"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
}