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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: 3-56627645-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=56627645&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 56627645,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001365635.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.3967T>C",
"hgvs_p": "p.Phe1323Leu",
"transcript": "NM_001365635.2",
"protein_id": "NP_001352564.1",
"transcript_support_level": null,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1670,
"cds_start": 3967,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000683822.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365635.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.3967T>C",
"hgvs_p": "p.Phe1323Leu",
"transcript": "ENST00000683822.1",
"protein_id": "ENSP00000508241.1",
"transcript_support_level": null,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1670,
"cds_start": 3967,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365635.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683822.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.3784T>C",
"hgvs_p": "p.Phe1262Leu",
"transcript": "ENST00000355628.9",
"protein_id": "ENSP00000347845.5",
"transcript_support_level": 1,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1609,
"cds_start": 3784,
"cds_end": null,
"cds_length": 4830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355628.9"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.2656T>C",
"hgvs_p": "p.Phe886Leu",
"transcript": "ENST00000431842.6",
"protein_id": "ENSP00000399410.2",
"transcript_support_level": 1,
"aa_start": 886,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2656,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431842.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.2062T>C",
"hgvs_p": "p.Phe688Leu",
"transcript": "ENST00000614531.1",
"protein_id": "ENSP00000483340.1",
"transcript_support_level": 1,
"aa_start": 688,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2062,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614531.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "n.1149T>C",
"hgvs_p": null,
"transcript": "ENST00000459993.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000459993.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.3844T>C",
"hgvs_p": "p.Phe1282Leu",
"transcript": "NM_001365636.2",
"protein_id": "NP_001352565.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1629,
"cds_start": 3844,
"cds_end": null,
"cds_length": 4890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365636.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.3784T>C",
"hgvs_p": "p.Phe1262Leu",
"transcript": "NM_001363940.1",
"protein_id": "NP_001350869.1",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1609,
"cds_start": 3784,
"cds_end": null,
"cds_length": 4830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363940.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.3967T>C",
"hgvs_p": "p.Phe1323Leu",
"transcript": "NM_001112736.2",
"protein_id": "NP_001106207.1",
"transcript_support_level": null,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1512,
"cds_start": 3967,
"cds_end": null,
"cds_length": 4539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001112736.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.3967T>C",
"hgvs_p": "p.Phe1323Leu",
"transcript": "ENST00000493960.6",
"protein_id": "ENSP00000417509.2",
"transcript_support_level": 5,
"aa_start": 1323,
"aa_end": null,
"aa_length": 1512,
"cds_start": 3967,
"cds_end": null,
"cds_length": 4539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493960.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.3844T>C",
"hgvs_p": "p.Phe1282Leu",
"transcript": "NM_001365637.2",
"protein_id": "NP_001352566.1",
"transcript_support_level": null,
"aa_start": 1282,
"aa_end": null,
"aa_length": 1471,
"cds_start": 3844,
"cds_end": null,
"cds_length": 4416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365637.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.3784T>C",
"hgvs_p": "p.Phe1262Leu",
"transcript": "NM_001365638.2",
"protein_id": "NP_001352567.1",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1451,
"cds_start": 3784,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365638.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.3112T>C",
"hgvs_p": "p.Phe1038Leu",
"transcript": "ENST00000888591.1",
"protein_id": "ENSP00000558650.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3112,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888591.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.2656T>C",
"hgvs_p": "p.Phe886Leu",
"transcript": "NM_015224.3",
"protein_id": "NP_056039.2",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1233,
"cds_start": 2656,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015224.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.3019T>C",
"hgvs_p": "p.Phe1007Leu",
"transcript": "XM_047447814.1",
"protein_id": "XP_047303770.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1354,
"cds_start": 3019,
"cds_end": null,
"cds_length": 4065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447814.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "c.2779T>C",
"hgvs_p": "p.Phe927Leu",
"transcript": "XM_047447815.1",
"protein_id": "XP_047303771.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 1274,
"cds_start": 2779,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447815.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "n.246T>C",
"hgvs_p": null,
"transcript": "ENST00000487036.1",
"protein_id": null,
"transcript_support_level": 3,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000487036.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"hgvs_c": "n.*4T>C",
"hgvs_p": null,
"transcript": "ENST00000461863.1",
"protein_id": null,
"transcript_support_level": 4,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000461863.1"
}
],
"gene_symbol": "TASOR",
"gene_hgnc_id": 30314,
"dbsnp": "rs778365681",
"frequency_reference_population": 0.00001573855,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000157385,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.804606556892395,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.577,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.974,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.821,
"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,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001365635.2",
"gene_symbol": "TASOR",
"hgnc_id": 30314,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3967T>C",
"hgvs_p": "p.Phe1323Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}