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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: 20-11923395-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=11923395&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 11923395,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014962.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"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": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.1298T>C",
"hgvs_p": "p.Val433Ala",
"transcript": "NM_014962.4",
"protein_id": "NP_055777.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 522,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378226.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014962.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"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": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.1298T>C",
"hgvs_p": "p.Val433Ala",
"transcript": "ENST00000378226.7",
"protein_id": "ENSP00000367471.2",
"transcript_support_level": 1,
"aa_start": 433,
"aa_end": null,
"aa_length": 522,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014962.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378226.7"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.1115T>C",
"hgvs_p": "p.Val372Ala",
"transcript": "ENST00000618296.4",
"protein_id": "ENSP00000477589.1",
"transcript_support_level": 1,
"aa_start": 372,
"aa_end": null,
"aa_length": 461,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618296.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.1298T>C",
"hgvs_p": "p.Val433Ala",
"transcript": "NM_001395005.1",
"protein_id": "NP_001381934.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 522,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395005.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.1298T>C",
"hgvs_p": "p.Val433Ala",
"transcript": "NM_001395006.1",
"protein_id": "NP_001381935.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 522,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395006.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.1298T>C",
"hgvs_p": "p.Val433Ala",
"transcript": "ENST00000405977.5",
"protein_id": "ENSP00000384545.1",
"transcript_support_level": 5,
"aa_start": 433,
"aa_end": null,
"aa_length": 522,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405977.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.1115T>C",
"hgvs_p": "p.Val372Ala",
"transcript": "NM_001282550.3",
"protein_id": "NP_001269479.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 461,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282550.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.1115T>C",
"hgvs_p": "p.Val372Ala",
"transcript": "NM_001282551.2",
"protein_id": "NP_001269480.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 461,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282551.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.1115T>C",
"hgvs_p": "p.Val372Ala",
"transcript": "NM_001395003.1",
"protein_id": "NP_001381932.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 461,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395003.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.1115T>C",
"hgvs_p": "p.Val372Ala",
"transcript": "NM_001395007.1",
"protein_id": "NP_001381936.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 461,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395007.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.1115T>C",
"hgvs_p": "p.Val372Ala",
"transcript": "NM_001395009.1",
"protein_id": "NP_001381938.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 461,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395009.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.1115T>C",
"hgvs_p": "p.Val372Ala",
"transcript": "NM_181443.4",
"protein_id": "NP_852108.3",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 461,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181443.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.1115T>C",
"hgvs_p": "p.Val372Ala",
"transcript": "ENST00000254977.7",
"protein_id": "ENSP00000254977.3",
"transcript_support_level": 2,
"aa_start": 372,
"aa_end": null,
"aa_length": 461,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254977.7"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.1115T>C",
"hgvs_p": "p.Val372Ala",
"transcript": "ENST00000399006.6",
"protein_id": "ENSP00000381971.2",
"transcript_support_level": 5,
"aa_start": 372,
"aa_end": null,
"aa_length": 461,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399006.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.1115T>C",
"hgvs_p": "p.Val372Ala",
"transcript": "ENST00000618918.4",
"protein_id": "ENSP00000483520.1",
"transcript_support_level": 4,
"aa_start": 372,
"aa_end": null,
"aa_length": 461,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618918.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Val282Ala",
"transcript": "NM_001282552.3",
"protein_id": "NP_001269481.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 371,
"cds_start": 845,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282552.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Val282Ala",
"transcript": "NM_001282554.2",
"protein_id": "NP_001269483.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 371,
"cds_start": 845,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282554.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Val282Ala",
"transcript": "NM_001395004.1",
"protein_id": "NP_001381933.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 371,
"cds_start": 845,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395004.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.845T>C",
"hgvs_p": "p.Val282Ala",
"transcript": "NM_001395008.1",
"protein_id": "NP_001381937.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 371,
"cds_start": 845,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395008.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.1298T>C",
"hgvs_p": "p.Val433Ala",
"transcript": "XM_047440013.1",
"protein_id": "XP_047295969.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 522,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440013.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BTBD3",
"gene_hgnc_id": 15854,
"hgvs_c": "c.1115T>C",
"hgvs_p": "p.Val372Ala",
"transcript": "XM_047440014.1",
"protein_id": "XP_047295970.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 461,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440014.1"
}
],
"gene_symbol": "BTBD3",
"gene_hgnc_id": 15854,
"dbsnp": null,
"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": 0.5179380774497986,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.32,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0919,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.252,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014962.4",
"gene_symbol": "BTBD3",
"hgnc_id": 15854,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1298T>C",
"hgvs_p": "p.Val433Ala"
}
],
"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
}