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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: 5-33453311-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=33453311&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 33453311,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000265112.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.352G>A",
"hgvs_p": "p.Val118Ile",
"transcript": "NM_152295.5",
"protein_id": "NP_689508.3",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 723,
"cds_start": 352,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 2672,
"mane_select": "ENST00000265112.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.352G>A",
"hgvs_p": "p.Val118Ile",
"transcript": "ENST00000265112.8",
"protein_id": "ENSP00000265112.3",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 723,
"cds_start": 352,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 2672,
"mane_select": "NM_152295.5",
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "n.*305G>A",
"hgvs_p": null,
"transcript": "ENST00000509731.5",
"protein_id": "ENSP00000427304.1",
"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": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "n.*305G>A",
"hgvs_p": null,
"transcript": "ENST00000509731.5",
"protein_id": "ENSP00000427304.1",
"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": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Ile",
"transcript": "NM_001258438.2",
"protein_id": "NP_001245367.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 756,
"cds_start": 451,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Val151Ile",
"transcript": "ENST00000455217.6",
"protein_id": "ENSP00000387710.2",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 756,
"cds_start": 451,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.352G>A",
"hgvs_p": "p.Val118Ile",
"transcript": "NM_001258437.1",
"protein_id": "NP_001245366.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 723,
"cds_start": 352,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 2692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.352G>A",
"hgvs_p": "p.Val118Ile",
"transcript": "ENST00000502553.5",
"protein_id": "ENSP00000424387.1",
"transcript_support_level": 2,
"aa_start": 118,
"aa_end": null,
"aa_length": 723,
"cds_start": 352,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 2534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.352G>A",
"hgvs_p": "p.Val118Ile",
"transcript": "ENST00000514259.5",
"protein_id": "ENSP00000422130.1",
"transcript_support_level": 4,
"aa_start": 118,
"aa_end": null,
"aa_length": 128,
"cds_start": 352,
"cds_end": null,
"cds_length": 387,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Arg54His",
"transcript": "ENST00000627006.2",
"protein_id": "ENSP00000486068.1",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
"aa_length": 56,
"cds_start": 161,
"cds_end": null,
"cds_length": 171,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 171,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "n.347G>A",
"hgvs_p": null,
"transcript": "ENST00000505012.5",
"protein_id": "ENSP00000422291.1",
"transcript_support_level": 4,
"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": 608,
"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": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "n.161G>A",
"hgvs_p": null,
"transcript": "ENST00000508361.5",
"protein_id": "ENSP00000427627.1",
"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": 2481,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "n.*309G>A",
"hgvs_p": null,
"transcript": "ENST00000513066.3",
"protein_id": "ENSP00000425524.1",
"transcript_support_level": 3,
"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": 656,
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "n.595G>A",
"hgvs_p": null,
"transcript": "NR_047676.2",
"protein_id": null,
"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": 2793,
"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": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "n.283G>A",
"hgvs_p": null,
"transcript": "NR_047678.2",
"protein_id": null,
"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": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "n.*309G>A",
"hgvs_p": null,
"transcript": "ENST00000513066.3",
"protein_id": "ENSP00000425524.1",
"transcript_support_level": 3,
"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": 656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "n.330-1671G>A",
"hgvs_p": null,
"transcript": "ENST00000507716.5",
"protein_id": "ENSP00000420893.1",
"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": 2475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"hgvs_c": "n.452-1671G>A",
"hgvs_p": null,
"transcript": "NR_047677.2",
"protein_id": null,
"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": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TARS1",
"gene_hgnc_id": 11572,
"dbsnp": "rs11541416",
"frequency_reference_population": 0.0010729003,
"hom_count_reference_population": 16,
"allele_count_reference_population": 1659,
"gnomad_exomes_af": 0.000590643,
"gnomad_genomes_af": 0.00614498,
"gnomad_exomes_ac": 834,
"gnomad_genomes_ac": 825,
"gnomad_exomes_homalt": 8,
"gnomad_genomes_homalt": 8,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006256461143493652,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.126,
"revel_prediction": "Benign",
"alphamissense_score": 0.0884,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.853,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": "ENST00000265112.8",
"gene_symbol": "TARS1",
"hgnc_id": 11572,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.352G>A",
"hgvs_p": "p.Val118Ile"
}
],
"clinvar_disease": "TARS1-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|TARS1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}