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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: 15-59138180-AAC-GGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=59138180&ref=AAC&alt=GGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "MYO1E",
"hgnc_id": 7599,
"hgvs_c": "c.3250+16_3250+18delGTTinsTCC",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_004998.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1108,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8644,
"cdna_start": null,
"cds_end": null,
"cds_length": 3327,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004998.4",
"gene_hgnc_id": 7599,
"gene_symbol": "MYO1E",
"hgvs_c": "c.3250+16_3250+18delGTTinsTCC",
"hgvs_p": null,
"intron_rank": 27,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000288235.9",
"protein_coding": true,
"protein_id": "NP_004989.2",
"strand": false,
"transcript": "NM_004998.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1108,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8644,
"cdna_start": null,
"cds_end": null,
"cds_length": 3327,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000288235.9",
"gene_hgnc_id": 7599,
"gene_symbol": "MYO1E",
"hgvs_c": "c.3250+16_3250+18delGTTinsTCC",
"hgvs_p": null,
"intron_rank": 27,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004998.4",
"protein_coding": true,
"protein_id": "ENSP00000288235.4",
"strand": false,
"transcript": "ENST00000288235.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1119,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4731,
"cdna_start": null,
"cds_end": null,
"cds_length": 3360,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884343.1",
"gene_hgnc_id": 7599,
"gene_symbol": "MYO1E",
"hgvs_c": "c.3283+16_3283+18delGTTinsTCC",
"hgvs_p": null,
"intron_rank": 27,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554402.1",
"strand": false,
"transcript": "ENST00000884343.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1099,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4395,
"cdna_start": null,
"cds_end": null,
"cds_length": 3300,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884345.1",
"gene_hgnc_id": 7599,
"gene_symbol": "MYO1E",
"hgvs_c": "c.3223+16_3223+18delGTTinsTCC",
"hgvs_p": null,
"intron_rank": 27,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554404.1",
"strand": false,
"transcript": "ENST00000884345.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1081,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4633,
"cdna_start": null,
"cds_end": null,
"cds_length": 3246,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884339.1",
"gene_hgnc_id": 7599,
"gene_symbol": "MYO1E",
"hgvs_c": "c.3169+16_3169+18delGTTinsTCC",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554398.1",
"strand": false,
"transcript": "ENST00000884339.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1067,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4588,
"cdna_start": null,
"cds_end": null,
"cds_length": 3204,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929058.1",
"gene_hgnc_id": 7599,
"gene_symbol": "MYO1E",
"hgvs_c": "c.3127+16_3127+18delGTTinsTCC",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599117.1",
"strand": false,
"transcript": "ENST00000929058.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1064,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4593,
"cdna_start": null,
"cds_end": null,
"cds_length": 3195,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884338.1",
"gene_hgnc_id": 7599,
"gene_symbol": "MYO1E",
"hgvs_c": "c.3118+16_3118+18delGTTinsTCC",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554397.1",
"strand": false,
"transcript": "ENST00000884338.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1059,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4295,
"cdna_start": null,
"cds_end": null,
"cds_length": 3180,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884344.1",
"gene_hgnc_id": 7599,
"gene_symbol": "MYO1E",
"hgvs_c": "c.3103+16_3103+18delGTTinsTCC",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554403.1",
"strand": false,
"transcript": "ENST00000884344.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1052,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4546,
"cdna_start": null,
"cds_end": null,
"cds_length": 3159,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884341.1",
"gene_hgnc_id": 7599,
"gene_symbol": "MYO1E",
"hgvs_c": "c.3082+16_3082+18delGTTinsTCC",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554400.1",
"strand": false,
"transcript": "ENST00000884341.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1045,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4524,
"cdna_start": null,
"cds_end": null,
"cds_length": 3138,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929057.1",
"gene_hgnc_id": 7599,
"gene_symbol": "MYO1E",
"hgvs_c": "c.3061+16_3061+18delGTTinsTCC",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599116.1",
"strand": false,
"transcript": "ENST00000929057.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1030,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4480,
"cdna_start": null,
"cds_end": null,
"cds_length": 3093,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884340.1",
"gene_hgnc_id": 7599,
"gene_symbol": "MYO1E",
"hgvs_c": "c.3016+16_3016+18delGTTinsTCC",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554399.1",
"strand": false,
"transcript": "ENST00000884340.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 911,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4123,
"cdna_start": null,
"cds_end": null,
"cds_length": 2736,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884342.1",
"gene_hgnc_id": 7599,
"gene_symbol": "MYO1E",
"hgvs_c": "c.2659+16_2659+18delGTTinsTCC",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554401.1",
"strand": false,
"transcript": "ENST00000884342.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 73,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 541,
"cdna_start": null,
"cds_end": null,
"cds_length": 222,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000559412.1",
"gene_hgnc_id": 7599,
"gene_symbol": "MYO1E",
"hgvs_c": "c.129+110_129+112delGTTinsTCC",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453936.1",
"strand": false,
"transcript": "ENST00000559412.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "intron_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 7599,
"gene_symbol": "MYO1E",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.381,
"pos": 59138180,
"ref": "AAC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_004998.4"
}
]
}