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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: 17-35002030-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35002030&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 35002030,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000378526.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.2600G>C",
"hgvs_p": "p.Arg867Pro",
"transcript": "NM_013975.4",
"protein_id": "NP_039269.2",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2600,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 2715,
"cdna_end": null,
"cdna_length": 8382,
"mane_select": "ENST00000378526.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.2600G>C",
"hgvs_p": "p.Arg867Pro",
"transcript": "ENST00000378526.9",
"protein_id": "ENSP00000367787.3",
"transcript_support_level": 1,
"aa_start": 867,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2600,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 2715,
"cdna_end": null,
"cdna_length": 8382,
"mane_select": "NM_013975.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.2600G>C",
"hgvs_p": "p.Arg867Pro",
"transcript": "ENST00000262327.9",
"protein_id": "ENSP00000262327.4",
"transcript_support_level": 1,
"aa_start": 867,
"aa_end": null,
"aa_length": 949,
"cds_start": 2600,
"cds_end": null,
"cds_length": 2850,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 3055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.2600G>C",
"hgvs_p": "p.Arg867Pro",
"transcript": "NM_002311.5",
"protein_id": "NP_002302.2",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 949,
"cds_start": 2600,
"cds_end": null,
"cds_length": 2850,
"cdna_start": 2715,
"cdna_end": null,
"cdna_length": 3070,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.2627G>C",
"hgvs_p": "p.Arg876Pro",
"transcript": "XM_047435968.1",
"protein_id": "XP_047291924.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 1054,
"cds_start": 2627,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 2690,
"cdna_end": null,
"cdna_length": 6686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.2600G>C",
"hgvs_p": "p.Arg867Pro",
"transcript": "XM_047435969.1",
"protein_id": "XP_047291925.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1045,
"cds_start": 2600,
"cds_end": null,
"cds_length": 3138,
"cdna_start": 2715,
"cdna_end": null,
"cdna_length": 6711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.2600G>C",
"hgvs_p": "p.Arg867Pro",
"transcript": "XM_047435970.1",
"protein_id": "XP_047291926.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1045,
"cds_start": 2600,
"cds_end": null,
"cds_length": 3138,
"cdna_start": 2694,
"cdna_end": null,
"cdna_length": 6690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.2627G>C",
"hgvs_p": "p.Arg876Pro",
"transcript": "XM_005257970.5",
"protein_id": "XP_005258027.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2627,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 2690,
"cdna_end": null,
"cdna_length": 8357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.2600G>C",
"hgvs_p": "p.Arg867Pro",
"transcript": "XM_017024624.2",
"protein_id": "XP_016880113.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2600,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 3038,
"cdna_end": null,
"cdna_length": 8705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.2627G>C",
"hgvs_p": "p.Arg876Pro",
"transcript": "XM_047435971.1",
"protein_id": "XP_047291927.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 1002,
"cds_start": 2627,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 2690,
"cdna_end": null,
"cdna_length": 6530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.2627G>C",
"hgvs_p": "p.Arg876Pro",
"transcript": "XM_006721896.4",
"protein_id": "XP_006721959.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 958,
"cds_start": 2627,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 2690,
"cdna_end": null,
"cdna_length": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "c.1787G>C",
"hgvs_p": "p.Arg596Pro",
"transcript": "XM_047435972.1",
"protein_id": "XP_047291928.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 738,
"cds_start": 1787,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2164,
"cdna_end": null,
"cdna_length": 7831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"hgvs_c": "n.2453G>C",
"hgvs_p": null,
"transcript": "ENST00000593099.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LIG3",
"gene_hgnc_id": 6600,
"dbsnp": "rs3136025",
"frequency_reference_population": 6.86096e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86096e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06973078846931458,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.0946,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.88,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000378526.9",
"gene_symbol": "LIG3",
"hgnc_id": 6600,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2600G>C",
"hgvs_p": "p.Arg867Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}