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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: 2-196137722-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=196137722&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 196137722,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004226.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK17B",
"gene_hgnc_id": 11396,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Pro282Ser",
"transcript": "NM_004226.4",
"protein_id": "NP_004217.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 372,
"cds_start": 844,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 5273,
"mane_select": "ENST00000263955.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK17B",
"gene_hgnc_id": 11396,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Pro282Ser",
"transcript": "ENST00000263955.9",
"protein_id": "ENSP00000263955.4",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 372,
"cds_start": 844,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 5273,
"mane_select": "NM_004226.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK17B",
"gene_hgnc_id": 11396,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Pro282Ser",
"transcript": "ENST00000409228.5",
"protein_id": "ENSP00000386853.1",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 372,
"cds_start": 844,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 1441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK17B",
"gene_hgnc_id": 11396,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Pro282Ser",
"transcript": "ENST00000420683.2",
"protein_id": "ENSP00000399755.2",
"transcript_support_level": 4,
"aa_start": 282,
"aa_end": null,
"aa_length": 372,
"cds_start": 844,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1149,
"cdna_end": null,
"cdna_length": 5288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK17B",
"gene_hgnc_id": 11396,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Pro282Ser",
"transcript": "ENST00000449152.2",
"protein_id": "ENSP00000413289.2",
"transcript_support_level": 4,
"aa_start": 282,
"aa_end": null,
"aa_length": 372,
"cds_start": 844,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 5530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK17B",
"gene_hgnc_id": 11396,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Pro282Ser",
"transcript": "ENST00000714417.1",
"protein_id": "ENSP00000519687.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 372,
"cds_start": 844,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 2837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK17B",
"gene_hgnc_id": 11396,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Pro282Ser",
"transcript": "XM_011512169.2",
"protein_id": "XP_011510471.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 372,
"cds_start": 844,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 5285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK17B",
"gene_hgnc_id": 11396,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Pro282Ser",
"transcript": "XM_011512170.2",
"protein_id": "XP_011510472.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 372,
"cds_start": 844,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 5444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK17B",
"gene_hgnc_id": 11396,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Pro282Ser",
"transcript": "XM_047446333.1",
"protein_id": "XP_047302289.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 372,
"cds_start": 844,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 5425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK17B",
"gene_hgnc_id": 11396,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Pro282Ser",
"transcript": "XM_047446334.1",
"protein_id": "XP_047302290.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 372,
"cds_start": 844,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 5356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK17B",
"gene_hgnc_id": 11396,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "XM_011512171.3",
"protein_id": "XP_011510473.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 244,
"cds_start": 460,
"cds_end": null,
"cds_length": 735,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 4802,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK17B",
"gene_hgnc_id": 11396,
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Pro154Ser",
"transcript": "XM_047446335.1",
"protein_id": "XP_047302291.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 244,
"cds_start": 460,
"cds_end": null,
"cds_length": 735,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 4901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK17B",
"gene_hgnc_id": 11396,
"hgvs_c": "n.*598C>T",
"hgvs_p": null,
"transcript": "ENST00000714419.1",
"protein_id": "ENSP00000519688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK17B",
"gene_hgnc_id": 11396,
"hgvs_c": "n.*599C>T",
"hgvs_p": null,
"transcript": "ENST00000714420.1",
"protein_id": "ENSP00000519689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK17B",
"gene_hgnc_id": 11396,
"hgvs_c": "n.*470C>T",
"hgvs_p": null,
"transcript": "ENST00000714421.1",
"protein_id": "ENSP00000519690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK17B",
"gene_hgnc_id": 11396,
"hgvs_c": "n.*598C>T",
"hgvs_p": null,
"transcript": "ENST00000714419.1",
"protein_id": "ENSP00000519688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK17B",
"gene_hgnc_id": 11396,
"hgvs_c": "n.*599C>T",
"hgvs_p": null,
"transcript": "ENST00000714420.1",
"protein_id": "ENSP00000519689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STK17B",
"gene_hgnc_id": 11396,
"hgvs_c": "n.*470C>T",
"hgvs_p": null,
"transcript": "ENST00000714421.1",
"protein_id": "ENSP00000519690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STK17B",
"gene_hgnc_id": 11396,
"dbsnp": null,
"frequency_reference_population": 0.0000013812097,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138121,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.39817360043525696,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.193,
"revel_prediction": "Benign",
"alphamissense_score": 0.2888,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.906,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004226.4",
"gene_symbol": "STK17B",
"hgnc_id": 11396,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Pro282Ser"
}
],
"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
}