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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: 15-101724101-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=101724101&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 101724101,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152334.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "NM_152334.3",
"protein_id": "NP_689547.2",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 802,
"cds_start": 287,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 3481,
"mane_select": "ENST00000335968.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152334.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000335968.8",
"protein_id": "ENSP00000338093.3",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 802,
"cds_start": 287,
"cds_end": null,
"cds_length": 2409,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 3481,
"mane_select": "NM_152334.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335968.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"hgvs_c": "n.287C>G",
"hgvs_p": null,
"transcript": "ENST00000539112.5",
"protein_id": "ENSP00000439899.1",
"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": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000539112.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000947773.1",
"protein_id": "ENSP00000617832.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 829,
"cds_start": 287,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 2977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947773.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000907982.1",
"protein_id": "ENSP00000578041.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 808,
"cds_start": 287,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907982.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000947768.1",
"protein_id": "ENSP00000617827.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 801,
"cds_start": 287,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 3334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947768.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000947769.1",
"protein_id": "ENSP00000617828.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 799,
"cds_start": 287,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 3135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947769.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000947770.1",
"protein_id": "ENSP00000617829.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 767,
"cds_start": 287,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 3007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947770.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000615656.1",
"protein_id": "ENSP00000478827.1",
"transcript_support_level": 5,
"aa_start": 96,
"aa_end": null,
"aa_length": 766,
"cds_start": 287,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615656.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000947772.1",
"protein_id": "ENSP00000617831.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 759,
"cds_start": 287,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947772.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000907978.1",
"protein_id": "ENSP00000578037.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 754,
"cds_start": 287,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 3084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907978.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000907980.1",
"protein_id": "ENSP00000578039.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 741,
"cds_start": 287,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907980.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000907979.1",
"protein_id": "ENSP00000578038.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 722,
"cds_start": 287,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907979.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000911609.1",
"protein_id": "ENSP00000581668.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 692,
"cds_start": 287,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 342,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911609.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000947771.1",
"protein_id": "ENSP00000617830.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 659,
"cds_start": 287,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 2679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947771.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "ENST00000907981.1",
"protein_id": "ENSP00000578040.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 335,
"cds_start": 287,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 1421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907981.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "XM_047432140.1",
"protein_id": "XP_047288096.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 712,
"cds_start": 287,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 2226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432140.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly",
"transcript": "XM_017021912.3",
"protein_id": "XP_016877401.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 675,
"cds_start": 287,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021912.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"hgvs_c": "n.373C>G",
"hgvs_p": null,
"transcript": "XR_007064422.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064422.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"hgvs_c": "n.373C>G",
"hgvs_p": null,
"transcript": "XR_931749.4",
"protein_id": null,
"transcript_support_level": null,
"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": 3409,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_931749.4"
}
],
"gene_symbol": "TARS3",
"gene_hgnc_id": 24728,
"dbsnp": "rs1143138",
"frequency_reference_population": 0.2966602,
"hom_count_reference_population": 68648,
"allele_count_reference_population": 404355,
"gnomad_exomes_af": 0.293992,
"gnomad_genomes_af": 0.317884,
"gnomad_exomes_ac": 355973,
"gnomad_genomes_ac": 48382,
"gnomad_exomes_homalt": 59772,
"gnomad_genomes_homalt": 8876,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000011794355714300764,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.05,
"revel_prediction": "Benign",
"alphamissense_score": 0.0771,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.07,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_152334.3",
"gene_symbol": "TARS3",
"hgnc_id": 24728,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.287C>G",
"hgvs_p": "p.Ala96Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}