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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: 4-188099106-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=188099106&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 188099106,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001303419.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIML2",
"gene_hgnc_id": 26378,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Val184Ile",
"transcript": "NM_173553.4",
"protein_id": "NP_775824.2",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 437,
"cds_start": 550,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682553.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173553.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIML2",
"gene_hgnc_id": 26378,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Val184Ile",
"transcript": "ENST00000682553.1",
"protein_id": "ENSP00000507413.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 437,
"cds_start": 550,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173553.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682553.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIML2",
"gene_hgnc_id": 26378,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Val184Ile",
"transcript": "ENST00000512729.5",
"protein_id": "ENSP00000422581.2",
"transcript_support_level": 1,
"aa_start": 184,
"aa_end": null,
"aa_length": 437,
"cds_start": 550,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512729.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIML2",
"gene_hgnc_id": 26378,
"hgvs_c": "c.430G>A",
"hgvs_p": "p.Val144Ile",
"transcript": "ENST00000326754.7",
"protein_id": "ENSP00000317498.4",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 422,
"cds_start": 430,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326754.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIML2",
"gene_hgnc_id": 26378,
"hgvs_c": "n.265G>A",
"hgvs_p": null,
"transcript": "ENST00000503141.1",
"protein_id": "ENSP00000426074.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000503141.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIML2",
"gene_hgnc_id": 26378,
"hgvs_c": "n.265G>A",
"hgvs_p": null,
"transcript": "ENST00000503475.5",
"protein_id": "ENSP00000421575.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000503475.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIML2",
"gene_hgnc_id": 26378,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Val184Ile",
"transcript": "NM_001303419.1",
"protein_id": "NP_001290348.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 462,
"cds_start": 550,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303419.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIML2",
"gene_hgnc_id": 26378,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Val184Ile",
"transcript": "ENST00000913513.1",
"protein_id": "ENSP00000583572.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 437,
"cds_start": 550,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913513.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIML2",
"gene_hgnc_id": 26378,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Val184Ile",
"transcript": "ENST00000913515.1",
"protein_id": "ENSP00000583574.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 437,
"cds_start": 550,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913515.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIML2",
"gene_hgnc_id": 26378,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Val119Ile",
"transcript": "ENST00000913514.1",
"protein_id": "ENSP00000583573.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 372,
"cds_start": 355,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913514.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIML2",
"gene_hgnc_id": 26378,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Val184Ile",
"transcript": "XM_047449767.1",
"protein_id": "XP_047305723.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 462,
"cds_start": 550,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449767.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIML2",
"gene_hgnc_id": 26378,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Val184Ile",
"transcript": "XM_011531737.3",
"protein_id": "XP_011530039.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 437,
"cds_start": 550,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531737.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIML2",
"gene_hgnc_id": 26378,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Val184Ile",
"transcript": "XM_011531738.3",
"protein_id": "XP_011530040.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 437,
"cds_start": 550,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531738.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIML2",
"gene_hgnc_id": 26378,
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Val92Ile",
"transcript": "XM_011531739.2",
"protein_id": "XP_011530041.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 345,
"cds_start": 274,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531739.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIML2",
"gene_hgnc_id": 26378,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Val184Ile",
"transcript": "XM_047449765.1",
"protein_id": "XP_047305721.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 261,
"cds_start": 550,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449765.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIML2",
"gene_hgnc_id": 26378,
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Val184Ile",
"transcript": "XM_047449766.1",
"protein_id": "XP_047305722.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 213,
"cds_start": 550,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449766.1"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "TRIML2",
"gene_hgnc_id": 26378,
"hgvs_c": "c.481-1760G>A",
"hgvs_p": null,
"transcript": "ENST00000913516.1",
"protein_id": "ENSP00000583575.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": null,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913516.1"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "TRIML2",
"gene_hgnc_id": 26378,
"hgvs_c": "c.481-1760G>A",
"hgvs_p": null,
"transcript": "ENST00000913517.1",
"protein_id": "ENSP00000583576.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": null,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913517.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRIML2",
"gene_hgnc_id": 26378,
"hgvs_c": "n.775G>A",
"hgvs_p": null,
"transcript": "ENST00000511771.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000511771.1"
}
],
"gene_symbol": "TRIML2",
"gene_hgnc_id": 26378,
"dbsnp": "rs114695684",
"frequency_reference_population": 0.0044080294,
"hom_count_reference_population": 241,
"allele_count_reference_population": 7115,
"gnomad_exomes_af": 0.00246947,
"gnomad_genomes_af": 0.0230213,
"gnomad_exomes_ac": 3610,
"gnomad_genomes_ac": 3505,
"gnomad_exomes_homalt": 118,
"gnomad_genomes_homalt": 123,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.001776963472366333,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.01,
"revel_prediction": "Benign",
"alphamissense_score": 0.0921,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.107,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001303419.1",
"gene_symbol": "TRIML2",
"hgnc_id": 26378,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Val184Ile"
}
],
"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
}