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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: 14-75103855-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=75103855&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 75103855,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000238616.10",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK9",
"gene_hgnc_id": 18591,
"hgvs_c": "c.1718T>C",
"hgvs_p": "p.Ile573Thr",
"transcript": "NM_033116.6",
"protein_id": "NP_149107.4",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 979,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1845,
"cdna_end": null,
"cdna_length": 8278,
"mane_select": "ENST00000238616.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK9",
"gene_hgnc_id": 18591,
"hgvs_c": "c.1718T>C",
"hgvs_p": "p.Ile573Thr",
"transcript": "ENST00000238616.10",
"protein_id": "ENSP00000238616.5",
"transcript_support_level": 1,
"aa_start": 573,
"aa_end": null,
"aa_length": 979,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 1845,
"cdna_end": null,
"cdna_length": 8278,
"mane_select": "NM_033116.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK9",
"gene_hgnc_id": 18591,
"hgvs_c": "c.1754T>C",
"hgvs_p": "p.Ile585Thr",
"transcript": "NM_001329237.2",
"protein_id": "NP_001316166.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 991,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 1881,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK9",
"gene_hgnc_id": 18591,
"hgvs_c": "c.1754T>C",
"hgvs_p": "p.Ile585Thr",
"transcript": "ENST00000678037.1",
"protein_id": "ENSP00000504620.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 991,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 6172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK9",
"gene_hgnc_id": 18591,
"hgvs_c": "c.1364T>C",
"hgvs_p": "p.Ile455Thr",
"transcript": "NM_001329238.2",
"protein_id": "NP_001316167.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 861,
"cds_start": 1364,
"cds_end": null,
"cds_length": 2586,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 8076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK9",
"gene_hgnc_id": 18591,
"hgvs_c": "c.1364T>C",
"hgvs_p": "p.Ile455Thr",
"transcript": "ENST00000678531.1",
"protein_id": "ENSP00000503827.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 861,
"cds_start": 1364,
"cds_end": null,
"cds_length": 2586,
"cdna_start": 1635,
"cdna_end": null,
"cdna_length": 6010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK9",
"gene_hgnc_id": 18591,
"hgvs_c": "c.1364T>C",
"hgvs_p": "p.Ile455Thr",
"transcript": "ENST00000678749.1",
"protein_id": "ENSP00000504104.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 861,
"cds_start": 1364,
"cds_end": null,
"cds_length": 2586,
"cdna_start": 1722,
"cdna_end": null,
"cdna_length": 5389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK9",
"gene_hgnc_id": 18591,
"hgvs_c": "c.1718T>C",
"hgvs_p": "p.Ile573Thr",
"transcript": "ENST00000553823.6",
"protein_id": "ENSP00000452537.2",
"transcript_support_level": 5,
"aa_start": 573,
"aa_end": null,
"aa_length": 592,
"cds_start": 1718,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK9",
"gene_hgnc_id": 18591,
"hgvs_c": "c.1400T>C",
"hgvs_p": "p.Ile467Thr",
"transcript": "XM_005268209.4",
"protein_id": "XP_005268266.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 873,
"cds_start": 1400,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 8112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK9",
"gene_hgnc_id": 18591,
"hgvs_c": "c.1364T>C",
"hgvs_p": "p.Ile455Thr",
"transcript": "XM_047431919.1",
"protein_id": "XP_047287875.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 861,
"cds_start": 1364,
"cds_end": null,
"cds_length": 2586,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 8013,
"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": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK9",
"gene_hgnc_id": 18591,
"hgvs_c": "n.2347T>C",
"hgvs_p": null,
"transcript": "ENST00000556170.5",
"protein_id": null,
"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": 3975,
"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": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK9",
"gene_hgnc_id": 18591,
"hgvs_c": "n.1512T>C",
"hgvs_p": null,
"transcript": "ENST00000557026.5",
"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": 5177,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK9",
"gene_hgnc_id": 18591,
"hgvs_c": "n.285T>C",
"hgvs_p": null,
"transcript": "ENST00000676476.1",
"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": 860,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK9",
"gene_hgnc_id": 18591,
"hgvs_c": "n.456T>C",
"hgvs_p": null,
"transcript": "ENST00000676711.1",
"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": 4211,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK9",
"gene_hgnc_id": 18591,
"hgvs_c": "n.*1267T>C",
"hgvs_p": null,
"transcript": "ENST00000677700.1",
"protein_id": "ENSP00000503940.1",
"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": 5551,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK9",
"gene_hgnc_id": 18591,
"hgvs_c": "n.*1267T>C",
"hgvs_p": null,
"transcript": "ENST00000677700.1",
"protein_id": "ENSP00000503940.1",
"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": 5551,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZC2HC1C",
"gene_hgnc_id": 20354,
"hgvs_c": "n.*80-5032A>G",
"hgvs_p": null,
"transcript": "ENST00000673981.1",
"protein_id": "ENSP00000501014.1",
"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": 3611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NEK9",
"gene_hgnc_id": 18591,
"dbsnp": "rs1555352529",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6059808135032654,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.334,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9716,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.235,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000238616.10",
"gene_symbol": "NEK9",
"hgnc_id": 18591,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1718T>C",
"hgvs_p": "p.Ile573Thr"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000673981.1",
"gene_symbol": "ZC2HC1C",
"hgnc_id": 20354,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*80-5032A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Nevus comedonicus syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Nevus comedonicus syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}