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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: X-11294801-ATTTTATTTG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=11294801&ref=ATTTTATTTG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 11294801,
"ref": "ATTTTATTTG",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000380714.7",
"consequences": [
{
"aa_ref": "ILFA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMELX",
"gene_hgnc_id": 461,
"hgvs_c": "c.14_22delTTTTATTTG",
"hgvs_p": "p.Ile5_Ala8delinsThr",
"transcript": "NM_001142.2",
"protein_id": "NP_001133.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 191,
"cds_start": 14,
"cds_end": null,
"cds_length": 576,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 793,
"mane_select": "ENST00000380714.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ILFA",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMELX",
"gene_hgnc_id": 461,
"hgvs_c": "c.14_22delTTTTATTTG",
"hgvs_p": "p.Ile5_Ala8delinsThr",
"transcript": "ENST00000380714.7",
"protein_id": "ENSP00000370090.3",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 191,
"cds_start": 14,
"cds_end": null,
"cds_length": 576,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 793,
"mane_select": "NM_001142.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ILFA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMELX",
"gene_hgnc_id": 461,
"hgvs_c": "c.14_22delTTTTATTTG",
"hgvs_p": "p.Ile5_Ala8delinsThr",
"transcript": "ENST00000380712.7",
"protein_id": "ENSP00000370088.3",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 205,
"cds_start": 14,
"cds_end": null,
"cds_length": 618,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 835,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGAP6",
"gene_hgnc_id": 676,
"hgvs_c": "c.589-40103_589-40095delCAAATAAAA",
"hgvs_p": null,
"transcript": "NM_013427.3",
"protein_id": "NP_038286.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 974,
"cds_start": -4,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5336,
"mane_select": "ENST00000337414.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGAP6",
"gene_hgnc_id": 676,
"hgvs_c": "c.589-40103_589-40095delCAAATAAAA",
"hgvs_p": null,
"transcript": "ENST00000337414.9",
"protein_id": "ENSP00000338967.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 974,
"cds_start": -4,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5336,
"mane_select": "NM_013427.3",
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGAP6",
"gene_hgnc_id": 676,
"hgvs_c": "c.-21-40103_-21-40095delCAAATAAAA",
"hgvs_p": null,
"transcript": "ENST00000380736.5",
"protein_id": "ENSP00000370112.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 771,
"cds_start": -4,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3883,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGAP6",
"gene_hgnc_id": 676,
"hgvs_c": "c.589-40103_589-40095delCAAATAAAA",
"hgvs_p": null,
"transcript": "ENST00000380718.1",
"protein_id": "ENSP00000370094.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 765,
"cds_start": -4,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGAP6",
"gene_hgnc_id": 676,
"hgvs_c": "n.589-4332_589-4324delCAAATAAAA",
"hgvs_p": null,
"transcript": "ENST00000495242.5",
"protein_id": "ENSP00000435767.1",
"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": 5303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ILFA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMELX",
"gene_hgnc_id": 461,
"hgvs_c": "c.14_22delTTTTATTTG",
"hgvs_p": "p.Ile5_Ala8delinsThr",
"transcript": "NM_182680.1",
"protein_id": "NP_872621.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 205,
"cds_start": 14,
"cds_end": null,
"cds_length": 618,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ILFA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMELX",
"gene_hgnc_id": 461,
"hgvs_c": "c.14_22delTTTTATTTG",
"hgvs_p": "p.Ile5_Ala8delinsThr",
"transcript": "NM_182681.1",
"protein_id": "NP_872622.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 175,
"cds_start": 14,
"cds_end": null,
"cds_length": 528,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ILFA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMELX",
"gene_hgnc_id": 461,
"hgvs_c": "c.14_22delTTTTATTTG",
"hgvs_p": "p.Ile5_Ala8delinsThr",
"transcript": "ENST00000348912.4",
"protein_id": "ENSP00000335312.5",
"transcript_support_level": 5,
"aa_start": 5,
"aa_end": null,
"aa_length": 175,
"cds_start": 14,
"cds_end": null,
"cds_length": 528,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ILFA",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMELX",
"gene_hgnc_id": 461,
"hgvs_c": "c.14_22delTTTTATTTG",
"hgvs_p": "p.Ile5_Ala8delinsThr",
"transcript": "XM_017029404.3",
"protein_id": "XP_016884893.2",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 344,
"cds_start": 14,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 14,
"cdna_end": null,
"cdna_length": 1035,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGAP6",
"gene_hgnc_id": 676,
"hgvs_c": "c.49-40103_49-40095delCAAATAAAA",
"hgvs_p": null,
"transcript": "NM_001287242.2",
"protein_id": "NP_001274171.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 794,
"cds_start": -4,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3927,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGAP6",
"gene_hgnc_id": 676,
"hgvs_c": "c.589-40103_589-40095delCAAATAAAA",
"hgvs_p": null,
"transcript": "NM_006125.3",
"protein_id": "NP_006116.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 765,
"cds_start": -4,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGAP6",
"gene_hgnc_id": 676,
"hgvs_c": "n.844-40103_844-40095delCAAATAAAA",
"hgvs_p": null,
"transcript": "ENST00000489330.6",
"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": 6299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGAP6",
"gene_hgnc_id": 676,
"hgvs_c": "n.1681-4332_1681-4324delCAAATAAAA",
"hgvs_p": null,
"transcript": "NR_109776.2",
"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": 5522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AMELX",
"gene_hgnc_id": 461,
"dbsnp": "rs387906488",
"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": 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": 4.052,
"phylop100way_prediction": "Uncertain_significance",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PM4",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000380714.7",
"gene_symbol": "AMELX",
"hgnc_id": 461,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "XL,AR",
"hgvs_c": "c.14_22delTTTTATTTG",
"hgvs_p": "p.Ile5_Ala8delinsThr"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000337414.9",
"gene_symbol": "ARHGAP6",
"hgnc_id": 676,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.589-40103_589-40095delCAAATAAAA",
"hgvs_p": null
}
],
"clinvar_disease": "Amelogenesis imperfecta type 1E",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Amelogenesis imperfecta type 1E",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}