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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: 16-75635716-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=75635716&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 75635716,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000302445.8",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.759T>C",
"hgvs_p": "p.Tyr253Tyr",
"transcript": "NM_005548.3",
"protein_id": "NP_005539.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 597,
"cds_start": 759,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": "ENST00000302445.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.759T>C",
"hgvs_p": "p.Tyr253Tyr",
"transcript": "ENST00000302445.8",
"protein_id": "ENSP00000303043.3",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 597,
"cds_start": 759,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": "NM_005548.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.843T>C",
"hgvs_p": "p.Tyr281Tyr",
"transcript": "ENST00000319410.9",
"protein_id": "ENSP00000325448.5",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 625,
"cds_start": 843,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 2421,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "n.873T>C",
"hgvs_p": null,
"transcript": "ENST00000566560.5",
"protein_id": null,
"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": 1231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.843T>C",
"hgvs_p": "p.Tyr281Tyr",
"transcript": "NM_001130089.2",
"protein_id": "NP_001123561.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 625,
"cds_start": 843,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.291T>C",
"hgvs_p": "p.Tyr97Tyr",
"transcript": "NM_001378148.1",
"protein_id": "NP_001365077.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 441,
"cds_start": 291,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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": "c.252T>C",
"hgvs_p": "p.Tyr84Tyr",
"transcript": "ENST00000566772.1",
"protein_id": "ENSP00000455488.1",
"transcript_support_level": 2,
"aa_start": 84,
"aa_end": null,
"aa_length": 104,
"cds_start": 252,
"cds_end": null,
"cds_length": 315,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.291T>C",
"hgvs_p": "p.Tyr97Tyr",
"transcript": "ENST00000568682.5",
"protein_id": "ENSP00000462057.1",
"transcript_support_level": 3,
"aa_start": 97,
"aa_end": null,
"aa_length": 101,
"cds_start": 291,
"cds_end": null,
"cds_length": 308,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 870,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "n.*268T>C",
"hgvs_p": null,
"transcript": "ENST00000562875.5",
"protein_id": "ENSP00000456185.1",
"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": 801,
"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": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "n.*302T>C",
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "n.*302T>C",
"hgvs_p": null,
"transcript": "ENST00000566249.5",
"protein_id": "ENSP00000456786.1",
"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": 649,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "n.*268T>C",
"hgvs_p": null,
"transcript": "ENST00000562875.5",
"protein_id": "ENSP00000456185.1",
"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": 801,
"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": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "n.*302T>C",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "n.*302T>C",
"hgvs_p": null,
"transcript": "ENST00000566249.5",
"protein_id": "ENSP00000456786.1",
"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": 649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.147-7727T>C",
"hgvs_p": null,
"transcript": "ENST00000568378.5",
"protein_id": "ENSP00000454512.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 67,
"cds_start": -4,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"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": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"hgvs_c": "c.*75T>C",
"hgvs_p": null,
"transcript": "ENST00000570215.1",
"protein_id": "ENSP00000458028.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": -4,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KARS1",
"gene_hgnc_id": 6215,
"dbsnp": "rs538215630",
"frequency_reference_population": 0.00009354885,
"hom_count_reference_population": 0,
"allele_count_reference_population": 151,
"gnomad_exomes_af": 0.0000944057,
"gnomad_genomes_af": 0.0000853276,
"gnomad_exomes_ac": 138,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6899999976158142,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.711,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000302445.8",
"gene_symbol": "KARS1",
"hgnc_id": 6215,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.759T>C",
"hgvs_p": "p.Tyr253Tyr"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not provided|not specified",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}