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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: 14-73619277-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=73619277&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 73619277,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001365788.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOT6",
"gene_hgnc_id": 33159,
"hgvs_c": "c.704G>T",
"hgvs_p": "p.Gly235Val",
"transcript": "NM_001365788.1",
"protein_id": "NP_001352717.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 421,
"cds_start": 704,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 1370,
"mane_select": "ENST00000645972.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365788.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOT6",
"gene_hgnc_id": 33159,
"hgvs_c": "c.704G>T",
"hgvs_p": "p.Gly235Val",
"transcript": "ENST00000645972.2",
"protein_id": "ENSP00000496277.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 421,
"cds_start": 704,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 1370,
"mane_select": "NM_001365788.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645972.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOT6",
"gene_hgnc_id": 33159,
"hgvs_c": "c.62G>T",
"hgvs_p": "p.Gly21Val",
"transcript": "ENST00000381139.1",
"protein_id": "ENSP00000370531.1",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 207,
"cds_start": 62,
"cds_end": null,
"cds_length": 624,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 1004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381139.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOT6",
"gene_hgnc_id": 33159,
"hgvs_c": "c.62G>T",
"hgvs_p": "p.Gly21Val",
"transcript": "NM_001037162.1",
"protein_id": "NP_001032239.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 207,
"cds_start": 62,
"cds_end": null,
"cds_length": 624,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 1004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037162.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOT6",
"gene_hgnc_id": 33159,
"hgvs_c": "c.62G>T",
"hgvs_p": "p.Gly21Val",
"transcript": "NM_001365789.1",
"protein_id": "NP_001352718.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 207,
"cds_start": 62,
"cds_end": null,
"cds_length": 624,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 1037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365789.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOT6",
"gene_hgnc_id": 33159,
"hgvs_c": "c.62G>T",
"hgvs_p": "p.Gly21Val",
"transcript": "ENST00000554229.1",
"protein_id": "ENSP00000451464.1",
"transcript_support_level": 3,
"aa_start": 21,
"aa_end": null,
"aa_length": 167,
"cds_start": 62,
"cds_end": null,
"cds_length": 506,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554229.1"
},
{
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HEATR4",
"gene_hgnc_id": 16761,
"hgvs_c": "c.-73+14384C>A",
"hgvs_p": null,
"transcript": "XM_047431370.1",
"protein_id": "XP_047287326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1026,
"cds_start": null,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3429,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431370.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258603",
"gene_hgnc_id": null,
"hgvs_c": "n.795-2067C>A",
"hgvs_p": null,
"transcript": "ENST00000555011.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1327,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000555011.5"
},
{
"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": "ENSG00000258603",
"gene_hgnc_id": null,
"hgvs_c": "n.448+390C>A",
"hgvs_p": null,
"transcript": "ENST00000617980.2",
"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": 978,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000617980.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258603",
"gene_hgnc_id": null,
"hgvs_c": "n.62+14384C>A",
"hgvs_p": null,
"transcript": "ENST00000664243.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000664243.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258603",
"gene_hgnc_id": null,
"hgvs_c": "n.186+14384C>A",
"hgvs_p": null,
"transcript": "ENST00000761264.1",
"protein_id": null,
"transcript_support_level": null,
"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": 462,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000761264.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258603",
"gene_hgnc_id": null,
"hgvs_c": "n.666+14384C>A",
"hgvs_p": null,
"transcript": "ENST00000761265.1",
"protein_id": null,
"transcript_support_level": null,
"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": 946,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000761265.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258603",
"gene_hgnc_id": null,
"hgvs_c": "n.245-2067C>A",
"hgvs_p": null,
"transcript": "ENST00000761266.1",
"protein_id": null,
"transcript_support_level": null,
"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": 774,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000761266.1"
},
{
"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": "ENSG00000258603",
"gene_hgnc_id": null,
"hgvs_c": "n.384+390C>A",
"hgvs_p": null,
"transcript": "ENST00000761267.1",
"protein_id": null,
"transcript_support_level": null,
"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": 904,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000761267.1"
}
],
"gene_symbol": "ACOT6",
"gene_hgnc_id": 33159,
"dbsnp": "rs201661122",
"frequency_reference_population": 0.000060381437,
"hom_count_reference_population": 1,
"allele_count_reference_population": 97,
"gnomad_exomes_af": 0.0000529519,
"gnomad_genomes_af": 0.000131316,
"gnomad_exomes_ac": 77,
"gnomad_genomes_ac": 20,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7130328416824341,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.689,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.558,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.481,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001365788.1",
"gene_symbol": "ACOT6",
"hgnc_id": 33159,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.704G>T",
"hgvs_p": "p.Gly235Val"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000555011.5",
"gene_symbol": "ENSG00000258603",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.795-2067C>A",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "XM_047431370.1",
"gene_symbol": "HEATR4",
"hgnc_id": 16761,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-73+14384C>A",
"hgvs_p": null
}
],
"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
}