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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: 16-75627951-CCTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=75627951&ref=CCTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 75627951,
"ref": "CCTT",
"alt": "C",
"effect": "conservative_inframe_deletion",
"transcript": "NM_005548.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.1735_1737delAAG",
"hgvs_p": "p.Lys579del",
"transcript": "NM_005548.3",
"protein_id": "NP_005539.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 597,
"cds_start": 1735,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": "ENST00000302445.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.1735_1737delAAG",
"hgvs_p": "p.Lys579del",
"transcript": "ENST00000302445.8",
"protein_id": "ENSP00000303043.3",
"transcript_support_level": 1,
"aa_start": 579,
"aa_end": null,
"aa_length": 597,
"cds_start": 1735,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": "NM_005548.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.1819_1821delAAG",
"hgvs_p": "p.Lys607del",
"transcript": "ENST00000319410.9",
"protein_id": "ENSP00000325448.5",
"transcript_support_level": 1,
"aa_start": 607,
"aa_end": null,
"aa_length": 625,
"cds_start": 1819,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1943,
"cdna_end": null,
"cdna_length": 2421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.1819_1821delAAG",
"hgvs_p": "p.Lys607del",
"transcript": "NM_001130089.2",
"protein_id": "NP_001123561.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 625,
"cds_start": 1819,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1943,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.1267_1269delAAG",
"hgvs_p": "p.Lys423del",
"transcript": "NM_001378148.1",
"protein_id": "NP_001365077.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 441,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1877,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "EG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.182_184delAAG",
"hgvs_p": "p.Glu61del",
"transcript": "ENST00000568378.5",
"protein_id": "ENSP00000454512.1",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 67,
"cds_start": 182,
"cds_end": null,
"cds_length": 204,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 459,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "n.*1278_*1280delAAG",
"hgvs_p": null,
"transcript": "ENST00000564578.5",
"protein_id": "ENSP00000455818.1",
"transcript_support_level": 5,
"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": 1942,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "n.481_483delAAG",
"hgvs_p": null,
"transcript": "ENST00000569298.1",
"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": 589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "n.*1278_*1280delAAG",
"hgvs_p": null,
"transcript": "ENST00000564578.5",
"protein_id": "ENSP00000455818.1",
"transcript_support_level": 5,
"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": 1942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"dbsnp": "rs753346124",
"frequency_reference_population": 0.000074441414,
"hom_count_reference_population": 0,
"allele_count_reference_population": 120,
"gnomad_exomes_af": 0.0000753592,
"gnomad_genomes_af": 0.000065647,
"gnomad_exomes_ac": 110,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.215,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4_Supporting",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005548.3",
"gene_symbol": "KARS1",
"hgnc_id": 6215,
"effects": [
"conservative_inframe_deletion"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1735_1737delAAG",
"hgvs_p": "p.Lys579del"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}