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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: 8-100213262-TGCGGCGGCG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=100213262&ref=TGCGGCGGCG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 100213262,
"ref": "TGCGGCGGCG",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000388798.7",
"consequences": [
{
"aa_ref": "AAAG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG1",
"gene_hgnc_id": 11212,
"hgvs_c": "c.1277_1285delCGGCGGCGG",
"hgvs_p": "p.Ala426_Ala428del",
"transcript": "NM_003114.5",
"protein_id": "NP_003105.2",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 926,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 3695,
"mane_select": "ENST00000388798.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AAAG",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG1",
"gene_hgnc_id": 11212,
"hgvs_c": "c.1277_1285delCGGCGGCGG",
"hgvs_p": "p.Ala426_Ala428del",
"transcript": "ENST00000388798.7",
"protein_id": "ENSP00000373450.3",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 926,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 3695,
"mane_select": "NM_003114.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AAAG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG1",
"gene_hgnc_id": 11212,
"hgvs_c": "c.1277_1285delCGGCGGCGG",
"hgvs_p": "p.Ala426_Ala428del",
"transcript": "NM_001374321.1",
"protein_id": "NP_001361250.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 926,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 3756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AAAG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG1",
"gene_hgnc_id": 11212,
"hgvs_c": "c.1277_1285delCGGCGGCGG",
"hgvs_p": "p.Ala426_Ala428del",
"transcript": "NM_172218.3",
"protein_id": "NP_757367.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 926,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AAAG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG1",
"gene_hgnc_id": 11212,
"hgvs_c": "c.1277_1285delCGGCGGCGG",
"hgvs_p": "p.Ala426_Ala428del",
"transcript": "ENST00000251809.4",
"protein_id": "ENSP00000251809.3",
"transcript_support_level": 5,
"aa_start": 426,
"aa_end": null,
"aa_length": 926,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 3748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AAAG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG1",
"gene_hgnc_id": 11212,
"hgvs_c": "c.1277_1285delCGGCGGCGG",
"hgvs_p": "p.Ala426_Ala428del",
"transcript": "XM_011517243.3",
"protein_id": "XP_011515545.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 926,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AAAG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG1",
"gene_hgnc_id": 11212,
"hgvs_c": "c.1277_1285delCGGCGGCGG",
"hgvs_p": "p.Ala426_Ala428del",
"transcript": "XM_047422128.1",
"protein_id": "XP_047278084.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 926,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 3828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AAAG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG1",
"gene_hgnc_id": 11212,
"hgvs_c": "c.1277_1285delCGGCGGCGG",
"hgvs_p": "p.Ala426_Ala428del",
"transcript": "XM_011517240.3",
"protein_id": "XP_011515542.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 875,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AAAG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG1",
"gene_hgnc_id": 11212,
"hgvs_c": "c.1277_1285delCGGCGGCGG",
"hgvs_p": "p.Ala426_Ala428del",
"transcript": "XM_011517241.3",
"protein_id": "XP_011515543.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 871,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AAAG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG1",
"gene_hgnc_id": 11212,
"hgvs_c": "c.1277_1285delCGGCGGCGG",
"hgvs_p": "p.Ala426_Ala428del",
"transcript": "XM_047422129.1",
"protein_id": "XP_047278085.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 668,
"cds_start": 1277,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 2189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AAAG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG1",
"gene_hgnc_id": 11212,
"hgvs_c": "c.1277_1285delCGGCGGCGG",
"hgvs_p": "p.Ala426_Ala428del",
"transcript": "XM_047422130.1",
"protein_id": "XP_047278086.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 563,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1692,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AAAG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG1",
"gene_hgnc_id": 11212,
"hgvs_c": "c.1277_1285delCGGCGGCGG",
"hgvs_p": "p.Ala426_Ala428del",
"transcript": "XM_011517245.3",
"protein_id": "XP_011515547.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 487,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 1671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AAAG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG1",
"gene_hgnc_id": 11212,
"hgvs_c": "c.1277_1285delCGGCGGCGG",
"hgvs_p": "p.Ala426_Ala428del",
"transcript": "XM_047422131.1",
"protein_id": "XP_047278087.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 483,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPAG1",
"gene_hgnc_id": 11212,
"hgvs_c": "n.184_192delCGGCGGCGG",
"hgvs_p": null,
"transcript": "ENST00000523302.1",
"protein_id": null,
"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": 638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPAG1",
"gene_hgnc_id": 11212,
"dbsnp": "rs962670800",
"frequency_reference_population": 9.4016417e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.40164e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.693,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000388798.7",
"gene_symbol": "SPAG1",
"hgnc_id": 11212,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1277_1285delCGGCGGCGG",
"hgvs_p": "p.Ala426_Ala428del"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}