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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: 13-20981575-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=20981575&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 20981575,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014572.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS2",
"gene_hgnc_id": 6515,
"hgvs_c": "c.2556C>G",
"hgvs_p": "p.Asp852Glu",
"transcript": "NM_014572.3",
"protein_id": "NP_055387.2",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2556,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382592.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014572.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS2",
"gene_hgnc_id": 6515,
"hgvs_c": "c.2556C>G",
"hgvs_p": "p.Asp852Glu",
"transcript": "ENST00000382592.5",
"protein_id": "ENSP00000372035.4",
"transcript_support_level": 1,
"aa_start": 852,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2556,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014572.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382592.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS2",
"gene_hgnc_id": 6515,
"hgvs_c": "c.2556C>G",
"hgvs_p": "p.Asp852Glu",
"transcript": "ENST00000906119.1",
"protein_id": "ENSP00000576178.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2556,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906119.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS2",
"gene_hgnc_id": 6515,
"hgvs_c": "c.2556C>G",
"hgvs_p": "p.Asp852Glu",
"transcript": "ENST00000906120.1",
"protein_id": "ENSP00000576179.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2556,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906120.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS2",
"gene_hgnc_id": 6515,
"hgvs_c": "c.2556C>G",
"hgvs_p": "p.Asp852Glu",
"transcript": "ENST00000940303.1",
"protein_id": "ENSP00000610362.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2556,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940303.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS2",
"gene_hgnc_id": 6515,
"hgvs_c": "c.2553C>G",
"hgvs_p": "p.Asp851Glu",
"transcript": "ENST00000940305.1",
"protein_id": "ENSP00000610364.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 1087,
"cds_start": 2553,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940305.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS2",
"gene_hgnc_id": 6515,
"hgvs_c": "c.999C>G",
"hgvs_p": "p.Asp333Glu",
"transcript": "ENST00000961821.1",
"protein_id": "ENSP00000631880.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 569,
"cds_start": 999,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961821.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS2",
"gene_hgnc_id": 6515,
"hgvs_c": "c.2556C>G",
"hgvs_p": "p.Asp852Glu",
"transcript": "XM_005266342.1",
"protein_id": "XP_005266399.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2556,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266342.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS2",
"gene_hgnc_id": 6515,
"hgvs_c": "c.2556C>G",
"hgvs_p": "p.Asp852Glu",
"transcript": "XM_047430266.1",
"protein_id": "XP_047286222.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2556,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430266.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS2",
"gene_hgnc_id": 6515,
"hgvs_c": "c.2295C>G",
"hgvs_p": "p.Asp765Glu",
"transcript": "XM_011535042.3",
"protein_id": "XP_011533344.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2295,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535042.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS2",
"gene_hgnc_id": 6515,
"hgvs_c": "c.2235C>G",
"hgvs_p": "p.Asp745Glu",
"transcript": "XM_017020541.2",
"protein_id": "XP_016876030.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 981,
"cds_start": 2235,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020541.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS2",
"gene_hgnc_id": 6515,
"hgvs_c": "c.2556C>G",
"hgvs_p": "p.Asp852Glu",
"transcript": "XM_017020542.2",
"protein_id": "XP_016876031.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 906,
"cds_start": 2556,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020542.2"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LATS2",
"gene_hgnc_id": 6515,
"hgvs_c": "c.2556C>G",
"hgvs_p": "p.Asp852Glu",
"transcript": "XM_047430267.1",
"protein_id": "XP_047286223.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 906,
"cds_start": 2556,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430267.1"
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LATS2",
"gene_hgnc_id": 6515,
"hgvs_c": "c.2482+1649C>G",
"hgvs_p": null,
"transcript": "ENST00000940304.1",
"protein_id": "ENSP00000610363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1027,
"cds_start": null,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940304.1"
}
],
"gene_symbol": "LATS2",
"gene_hgnc_id": 6515,
"dbsnp": "rs61745905",
"frequency_reference_population": 0.0010792753,
"hom_count_reference_population": 21,
"allele_count_reference_population": 1742,
"gnomad_exomes_af": 0.000584231,
"gnomad_genomes_af": 0.00583075,
"gnomad_exomes_ac": 854,
"gnomad_genomes_ac": 888,
"gnomad_exomes_homalt": 12,
"gnomad_genomes_homalt": 9,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009694308042526245,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.123,
"revel_prediction": "Benign",
"alphamissense_score": 0.2752,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.88,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_014572.3",
"gene_symbol": "LATS2",
"hgnc_id": 6515,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2556C>G",
"hgvs_p": "p.Asp852Glu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}