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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: 16-2966183-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2966183&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 2966183,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_172229.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KREMEN2",
"gene_hgnc_id": 18797,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala",
"transcript": "NM_172229.3",
"protein_id": "NP_757384.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 462,
"cds_start": 313,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000303746.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172229.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KREMEN2",
"gene_hgnc_id": 18797,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala",
"transcript": "ENST00000303746.10",
"protein_id": "ENSP00000304422.5",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 462,
"cds_start": 313,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_172229.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303746.10"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KREMEN2",
"gene_hgnc_id": 18797,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala",
"transcript": "ENST00000575769.1",
"protein_id": "ENSP00000460917.1",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 424,
"cds_start": 313,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575769.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KREMEN2",
"gene_hgnc_id": 18797,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala",
"transcript": "ENST00000319500.11",
"protein_id": "ENSP00000322079.6",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 420,
"cds_start": 313,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319500.11"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KREMEN2",
"gene_hgnc_id": 18797,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala",
"transcript": "ENST00000572045.5",
"protein_id": "ENSP00000460578.1",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 399,
"cds_start": 313,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572045.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KREMEN2",
"gene_hgnc_id": 18797,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala",
"transcript": "ENST00000924037.1",
"protein_id": "ENSP00000594096.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 450,
"cds_start": 313,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924037.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KREMEN2",
"gene_hgnc_id": 18797,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala",
"transcript": "NM_001253726.2",
"protein_id": "NP_001240655.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 423,
"cds_start": 313,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253726.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KREMEN2",
"gene_hgnc_id": 18797,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala",
"transcript": "ENST00000571007.5",
"protein_id": "ENSP00000461860.1",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 423,
"cds_start": 313,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571007.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KREMEN2",
"gene_hgnc_id": 18797,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala",
"transcript": "NM_024507.4",
"protein_id": "NP_078783.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 420,
"cds_start": 313,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024507.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KREMEN2",
"gene_hgnc_id": 18797,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala",
"transcript": "NM_001253725.2",
"protein_id": "NP_001240654.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 381,
"cds_start": 313,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253725.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KREMEN2",
"gene_hgnc_id": 18797,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala",
"transcript": "ENST00000575885.5",
"protein_id": "ENSP00000459878.1",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 381,
"cds_start": 313,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575885.5"
}
],
"gene_symbol": "KREMEN2",
"gene_hgnc_id": 18797,
"dbsnp": "rs766766667",
"frequency_reference_population": 0.000004793122,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000479312,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21491578221321106,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.235,
"revel_prediction": "Benign",
"alphamissense_score": 0.1767,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.053,
"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_172229.3",
"gene_symbol": "KREMEN2",
"hgnc_id": 18797,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Thr105Ala"
}
],
"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
}