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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: 9-92242195-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=92242195&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 92242195,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000443024.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.3136G>A",
"hgvs_p": "p.Val1046Ile",
"transcript": "NM_002161.6",
"protein_id": "NP_002152.2",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3136,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 3230,
"cdna_end": null,
"cdna_length": 4483,
"mane_select": "ENST00000443024.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.3136G>A",
"hgvs_p": "p.Val1046Ile",
"transcript": "ENST00000443024.7",
"protein_id": "ENSP00000406448.4",
"transcript_support_level": 5,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3136,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 3230,
"cdna_end": null,
"cdna_length": 4483,
"mane_select": "NM_002161.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.3136G>A",
"hgvs_p": "p.Val1046Ile",
"transcript": "ENST00000375643.7",
"protein_id": "ENSP00000364794.3",
"transcript_support_level": 1,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3136,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 3403,
"cdna_end": null,
"cdna_length": 4656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "n.3136G>A",
"hgvs_p": null,
"transcript": "ENST00000447699.7",
"protein_id": "ENSP00000415020.3",
"transcript_support_level": 1,
"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": 4587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.3199G>A",
"hgvs_p": "p.Val1067Ile",
"transcript": "NM_001378569.1",
"protein_id": "NP_001365498.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3199,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3463,
"cdna_end": null,
"cdna_length": 4716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.3157G>A",
"hgvs_p": "p.Val1053Ile",
"transcript": "NM_001378571.1",
"protein_id": "NP_001365500.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1269,
"cds_start": 3157,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 3251,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.3136G>A",
"hgvs_p": "p.Val1046Ile",
"transcript": "NM_001378572.1",
"protein_id": "NP_001365501.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1269,
"cds_start": 3136,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 3230,
"cdna_end": null,
"cdna_length": 4504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.3136G>A",
"hgvs_p": "p.Val1046Ile",
"transcript": "NM_001378573.1",
"protein_id": "NP_001365502.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3136,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 3212,
"cdna_end": null,
"cdna_length": 4465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.3136G>A",
"hgvs_p": "p.Val1046Ile",
"transcript": "NM_001378574.1",
"protein_id": "NP_001365503.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3136,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 3277,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.3136G>A",
"hgvs_p": "p.Val1046Ile",
"transcript": "NM_001378575.1",
"protein_id": "NP_001365504.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3136,
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"cds_length": 3789,
"cdna_start": 3317,
"cdna_end": null,
"cdna_length": 4570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
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"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.3136G>A",
"hgvs_p": "p.Val1046Ile",
"transcript": "NM_001378576.1",
"protein_id": "NP_001365505.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3136,
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"cdna_start": 3310,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 34,
"intron_rank": null,
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"gene_symbol": "IARS1",
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"hgvs_c": "c.3136G>A",
"hgvs_p": "p.Val1046Ile",
"transcript": "NM_013417.4",
"protein_id": "NP_038203.2",
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"aa_start": 1046,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3136,
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"cdna_start": 3400,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
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"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.3136G>A",
"hgvs_p": "p.Val1046Ile",
"transcript": "ENST00000683565.1",
"protein_id": "ENSP00000507144.1",
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},
{
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],
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"gene_symbol": "IARS1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.3136G>A",
"hgvs_p": "p.Val1046Ile",
"transcript": "NM_001378578.1",
"protein_id": "NP_001365507.1",
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},
{
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],
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"gene_symbol": "IARS1",
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"hgvs_c": "c.3136G>A",
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},
{
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],
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"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.3136G>A",
"hgvs_p": "p.Val1046Ile",
"transcript": "NM_001378580.1",
"protein_id": "NP_001365509.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.3136G>A",
"hgvs_p": "p.Val1046Ile",
"transcript": "ENST00000683469.1",
"protein_id": "ENSP00000507286.1",
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},
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"protein_id": "ENSP00000507577.1",
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},
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"intron_rank": null,
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"gene_symbol": "IARS1",
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"hgvs_p": "p.Val1021Ile",
"transcript": "NM_001374299.1",
"protein_id": "NP_001361228.1",
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},
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],
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"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
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"hgvs_p": "p.Val1021Ile",
"transcript": "NM_001374300.1",
"protein_id": "NP_001361229.1",
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"aa_start": 1021,
"aa_end": null,
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"cds_start": 3061,
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"cdna_start": 3325,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "c.3061G>A",
"hgvs_p": "p.Val1021Ile",
"transcript": "ENST00000684557.1",
"protein_id": "ENSP00000508205.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1237,
"cds_start": 3061,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 33,
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"gene_symbol": "IARS1",
"gene_hgnc_id": 5330,
"hgvs_c": "n.*545G>A",
"hgvs_p": null,
"transcript": "ENST00000684757.1",
"protein_id": "ENSP00000507247.1",
"transcript_support_level": null,
"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": "IARS1",
"gene_hgnc_id": 5330,
"dbsnp": "rs34737051",
"frequency_reference_population": 0.006599051,
"hom_count_reference_population": 45,
"allele_count_reference_population": 10651,
"gnomad_exomes_af": 0.00681324,
"gnomad_genomes_af": 0.00454343,
"gnomad_exomes_ac": 9959,
"gnomad_genomes_ac": 692,
"gnomad_exomes_homalt": 43,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007034957408905029,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.099,
"revel_prediction": "Benign",
"alphamissense_score": 0.0781,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.719,
"phylop100way_prediction": "Uncertain_significance",
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000443024.7",
"gene_symbol": "IARS1",
"hgnc_id": 5330,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3136G>A",
"hgvs_p": "p.Val1046Ile"
}
],
"clinvar_disease": "IARS1-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"phenotype_combined": "IARS1-related disorder|not provided|not specified",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}