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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: 16-75631246-GCG-ACT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=75631246&ref=GCG&alt=ACT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KARS1",
"hgnc_id": 6215,
"hgvs_c": "c.1342_1344delCGCinsAGT",
"hgvs_p": "p.Arg448Ser",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001130089.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1991,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005548.3",
"gene_hgnc_id": 6215,
"gene_symbol": "KARS1",
"hgvs_c": "c.1258_1260delCGCinsAGT",
"hgvs_p": "p.Arg420Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000302445.8",
"protein_coding": true,
"protein_id": "NP_005539.1",
"strand": false,
"transcript": "NM_005548.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1991,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000302445.8",
"gene_hgnc_id": 6215,
"gene_symbol": "KARS1",
"hgvs_c": "c.1258_1260delCGCinsAGT",
"hgvs_p": "p.Arg420Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005548.3",
"protein_coding": true,
"protein_id": "ENSP00000303043.3",
"strand": false,
"transcript": "ENST00000302445.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2421,
"cdna_start": 1466,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1342,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000319410.9",
"gene_hgnc_id": 6215,
"gene_symbol": "KARS1",
"hgvs_c": "c.1342_1344delCGCinsAGT",
"hgvs_p": "p.Arg448Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000325448.5",
"strand": false,
"transcript": "ENST00000319410.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 635,
"aa_ref": "R",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3103,
"cdna_start": 2398,
"cds_end": null,
"cds_length": 1908,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898534.1",
"gene_hgnc_id": 6215,
"gene_symbol": "KARS1",
"hgvs_c": "c.1372_1374delCGCinsAGT",
"hgvs_p": "p.Arg458Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568593.1",
"strand": false,
"transcript": "ENST00000898534.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 633,
"aa_ref": "R",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2081,
"cdna_start": 1388,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958942.1",
"gene_hgnc_id": 6215,
"gene_symbol": "KARS1",
"hgvs_c": "c.1372_1374delCGCinsAGT",
"hgvs_p": "p.Arg458Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629001.1",
"strand": false,
"transcript": "ENST00000958942.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 625,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2171,
"cdna_start": 1466,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1342,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001130089.2",
"gene_hgnc_id": 6215,
"gene_symbol": "KARS1",
"hgvs_c": "c.1342_1344delCGCinsAGT",
"hgvs_p": "p.Arg448Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123561.1",
"strand": false,
"transcript": "NM_001130089.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 598,
"aa_ref": "R",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 1289,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1261,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898535.1",
"gene_hgnc_id": 6215,
"gene_symbol": "KARS1",
"hgvs_c": "c.1261_1263delCGCinsAGT",
"hgvs_p": "p.Arg421Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568594.1",
"strand": false,
"transcript": "ENST00000898535.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 597,
"aa_ref": "R",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2148,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000912463.1",
"gene_hgnc_id": 6215,
"gene_symbol": "KARS1",
"hgvs_c": "c.1258_1260delCGCinsAGT",
"hgvs_p": "p.Arg420Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582522.1",
"strand": false,
"transcript": "ENST00000912463.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 595,
"aa_ref": "R",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": 1310,
"cds_end": null,
"cds_length": 1788,
"cds_start": 1258,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000912464.1",
"gene_hgnc_id": 6215,
"gene_symbol": "KARS1",
"hgvs_c": "c.1258_1260delCGCinsAGT",
"hgvs_p": "p.Arg420Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582523.1",
"strand": false,
"transcript": "ENST00000912464.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1863,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1138,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898537.1",
"gene_hgnc_id": 6215,
"gene_symbol": "KARS1",
"hgvs_c": "c.1138_1140delCGCinsAGT",
"hgvs_p": "p.Arg380Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568596.1",
"strand": false,
"transcript": "ENST00000898537.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 441,
"aa_ref": "R",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": 1400,
"cds_end": null,
"cds_length": 1326,
"cds_start": 790,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378148.1",
"gene_hgnc_id": 6215,
"gene_symbol": "KARS1",
"hgvs_c": "c.790_792delCGCinsAGT",
"hgvs_p": "p.Arg264Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365077.1",
"strand": false,
"transcript": "NM_001378148.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 366,
"aa_ref": "R",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1291,
"cdna_start": 596,
"cds_end": null,
"cds_length": 1101,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898536.1",
"gene_hgnc_id": 6215,
"gene_symbol": "KARS1",
"hgvs_c": "c.565_567delCGCinsAGT",
"hgvs_p": "p.Arg189Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568595.1",
"strand": false,
"transcript": "ENST00000898536.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 109,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 527,
"cdna_start": null,
"cds_end": null,
"cds_length": 330,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000912465.1",
"gene_hgnc_id": 6215,
"gene_symbol": "KARS1",
"hgvs_c": "c.112-2560_112-2558delCGCinsAGT",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582524.1",
"strand": false,
"transcript": "ENST00000912465.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 67,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 459,
"cdna_start": null,
"cds_end": null,
"cds_length": 204,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000568378.5",
"gene_hgnc_id": 6215,
"gene_symbol": "KARS1",
"hgvs_c": "c.147-3259_147-3257delCGCinsAGT",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454512.1",
"strand": false,
"transcript": "ENST00000568378.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1942,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000564578.5",
"gene_hgnc_id": 6215,
"gene_symbol": "KARS1",
"hgvs_c": "n.*801_*803delCGCinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455818.1",
"strand": false,
"transcript": "ENST00000564578.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1942,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000564578.5",
"gene_hgnc_id": 6215,
"gene_symbol": "KARS1",
"hgvs_c": "n.*801_*803delCGCinsAGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455818.1",
"strand": false,
"transcript": "ENST00000564578.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 6215,
"gene_symbol": "KARS1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"pos": 75631246,
"ref": "GCG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001130089.2"
}
]
}