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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: 14-73755751-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=73755751&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 73755751,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001367710.1",
"consequences": [
{
"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": "MIDEAS",
"gene_hgnc_id": 19853,
"hgvs_c": "c.-248+4012T>G",
"hgvs_p": null,
"transcript": "NM_001367710.1",
"protein_id": "NP_001354639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1099,
"cds_start": null,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7809,
"mane_select": "ENST00000423556.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367710.1"
},
{
"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": "MIDEAS",
"gene_hgnc_id": 19853,
"hgvs_c": "c.-248+4012T>G",
"hgvs_p": null,
"transcript": "ENST00000423556.7",
"protein_id": "ENSP00000407767.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1099,
"cds_start": null,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7809,
"mane_select": "NM_001367710.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423556.7"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MIDEAS",
"gene_hgnc_id": 19853,
"hgvs_c": "c.-248+4012T>G",
"hgvs_p": null,
"transcript": "ENST00000286523.9",
"protein_id": "ENSP00000286523.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1045,
"cds_start": null,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286523.9"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MIDEAS",
"gene_hgnc_id": 19853,
"hgvs_c": "c.-247-15496T>G",
"hgvs_p": null,
"transcript": "ENST00000394071.6",
"protein_id": "ENSP00000377634.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1045,
"cds_start": null,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394071.6"
},
{
"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": "MIDEAS",
"gene_hgnc_id": 19853,
"hgvs_c": "c.-247-15496T>G",
"hgvs_p": null,
"transcript": "NM_001394972.1",
"protein_id": "NP_001381901.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1099,
"cds_start": null,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394972.1"
},
{
"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": "MIDEAS",
"gene_hgnc_id": 19853,
"hgvs_c": "c.-247-15496T>G",
"hgvs_p": null,
"transcript": "ENST00000906703.1",
"protein_id": "ENSP00000576762.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1099,
"cds_start": null,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906703.1"
},
{
"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": "MIDEAS",
"gene_hgnc_id": 19853,
"hgvs_c": "c.-247-15496T>G",
"hgvs_p": null,
"transcript": "ENST00000968095.1",
"protein_id": "ENSP00000638154.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1099,
"cds_start": null,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968095.1"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MIDEAS",
"gene_hgnc_id": 19853,
"hgvs_c": "c.-247-15496T>G",
"hgvs_p": null,
"transcript": "NM_001043318.3",
"protein_id": "NP_001036783.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1045,
"cds_start": null,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001043318.3"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MIDEAS",
"gene_hgnc_id": 19853,
"hgvs_c": "c.-248+4012T>G",
"hgvs_p": null,
"transcript": "NM_194278.4",
"protein_id": "NP_919254.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1045,
"cds_start": null,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194278.4"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MIDEAS",
"gene_hgnc_id": 19853,
"hgvs_c": "c.-247-15496T>G",
"hgvs_p": null,
"transcript": "ENST00000906704.1",
"protein_id": "ENSP00000576763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 999,
"cds_start": null,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906704.1"
},
{
"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": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MIDEAS",
"gene_hgnc_id": 19853,
"hgvs_c": "c.-247-15496T>G",
"hgvs_p": null,
"transcript": "XM_005268206.1",
"protein_id": "XP_005268263.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1099,
"cds_start": null,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268206.1"
},
{
"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": "MIDEAS",
"gene_hgnc_id": 19853,
"hgvs_c": "c.-247-15496T>G",
"hgvs_p": null,
"transcript": "XM_047431913.1",
"protein_id": "XP_047287869.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1099,
"cds_start": null,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431913.1"
},
{
"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": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MIDEAS",
"gene_hgnc_id": 19853,
"hgvs_c": "c.-247-15496T>G",
"hgvs_p": null,
"transcript": "XM_047431914.1",
"protein_id": "XP_047287870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1099,
"cds_start": null,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431914.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MIDEAS",
"gene_hgnc_id": 19853,
"hgvs_c": "c.-248+4012T>G",
"hgvs_p": null,
"transcript": "XM_047431915.1",
"protein_id": "XP_047287871.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 620,
"cds_start": null,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431915.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MIDEAS",
"gene_hgnc_id": 19853,
"hgvs_c": "n.310-15496T>G",
"hgvs_p": null,
"transcript": "ENST00000486739.1",
"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": 534,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000486739.1"
}
],
"gene_symbol": "MIDEAS",
"gene_hgnc_id": 19853,
"dbsnp": "rs9323592",
"frequency_reference_population": 0.104555614,
"hom_count_reference_population": 1667,
"allele_count_reference_population": 15905,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.104556,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 15905,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1667,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.031,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001367710.1",
"gene_symbol": "MIDEAS",
"hgnc_id": 19853,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-248+4012T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}