← Back to variant description
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: 1-6571003-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6571003&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6571003,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_138697.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAS1R1",
"gene_hgnc_id": 14448,
"hgvs_c": "c.286A>C",
"hgvs_p": "p.Ile96Leu",
"transcript": "NM_138697.4",
"protein_id": "NP_619642.2",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 841,
"cds_start": 286,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": "ENST00000333172.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138697.4"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAS1R1",
"gene_hgnc_id": 14448,
"hgvs_c": "c.286A>C",
"hgvs_p": "p.Ile96Leu",
"transcript": "ENST00000333172.11",
"protein_id": "ENSP00000331867.6",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 841,
"cds_start": 286,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 2764,
"mane_select": "NM_138697.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333172.11"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAS1R1",
"gene_hgnc_id": 14448,
"hgvs_c": "c.61A>C",
"hgvs_p": "p.Ile21Leu",
"transcript": "ENST00000415267.1",
"protein_id": "ENSP00000408448.1",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 245,
"cds_start": 61,
"cds_end": null,
"cds_length": 738,
"cdna_start": 63,
"cdna_end": null,
"cdna_length": 740,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415267.1"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAS1R1",
"gene_hgnc_id": 14448,
"hgvs_c": "c.286A>C",
"hgvs_p": "p.Ile96Leu",
"transcript": "NM_177540.3",
"protein_id": "NP_803884.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 587,
"cds_start": 286,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177540.3"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAS1R1",
"gene_hgnc_id": 14448,
"hgvs_c": "c.286A>C",
"hgvs_p": "p.Ile96Leu",
"transcript": "ENST00000351136.7",
"protein_id": "ENSP00000312558.5",
"transcript_support_level": 2,
"aa_start": 96,
"aa_end": null,
"aa_length": 587,
"cds_start": 286,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351136.7"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAS1R1",
"gene_hgnc_id": 14448,
"hgvs_c": "c.61A>C",
"hgvs_p": "p.Ile21Leu",
"transcript": "ENST00000411823.5",
"protein_id": "ENSP00000414166.1",
"transcript_support_level": 2,
"aa_start": 21,
"aa_end": null,
"aa_length": 405,
"cds_start": 61,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 63,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411823.5"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAS1R1",
"gene_hgnc_id": 14448,
"hgvs_c": "c.52A>C",
"hgvs_p": "p.Ile18Leu",
"transcript": "XM_011542203.2",
"protein_id": "XP_011540505.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 763,
"cds_start": 52,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 748,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542203.2"
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAS1R1",
"gene_hgnc_id": 14448,
"hgvs_c": "c.286A>C",
"hgvs_p": "p.Ile96Leu",
"transcript": "XM_011542206.3",
"protein_id": "XP_011540508.2",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 578,
"cds_start": 286,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 2121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011542206.3"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "LOC107984912",
"gene_hgnc_id": null,
"hgvs_c": "n.88-1020T>G",
"hgvs_p": null,
"transcript": "XR_001737881.1",
"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": 446,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001737881.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "LOC107984912",
"gene_hgnc_id": null,
"hgvs_c": "n.88-1020T>G",
"hgvs_p": null,
"transcript": "XR_002958250.1",
"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": 367,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_002958250.1"
}
],
"gene_symbol": "TAS1R1",
"gene_hgnc_id": 14448,
"dbsnp": "rs375786707",
"frequency_reference_population": 6.8406285e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84063e-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": 0.1788892149925232,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.172,
"revel_prediction": "Benign",
"alphamissense_score": 0.1387,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.107,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_138697.4",
"gene_symbol": "TAS1R1",
"hgnc_id": 14448,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.286A>C",
"hgvs_p": "p.Ile96Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001737881.1",
"gene_symbol": "LOC107984912",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.88-1020T>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
}