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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: 17-75847841-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75847841&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75847841,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_012478.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"hgvs_c": "c.487A>C",
"hgvs_p": "p.Met163Leu",
"transcript": "NM_012478.4",
"protein_id": "NP_036610.2",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 261,
"cds_start": 487,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000254806.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012478.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"hgvs_c": "c.487A>C",
"hgvs_p": "p.Met163Leu",
"transcript": "ENST00000254806.8",
"protein_id": "ENSP00000254806.3",
"transcript_support_level": 1,
"aa_start": 163,
"aa_end": null,
"aa_length": 261,
"cds_start": 487,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012478.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254806.8"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"hgvs_c": "c.487A>C",
"hgvs_p": "p.Met163Leu",
"transcript": "NM_001348170.1",
"protein_id": "NP_001335099.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 261,
"cds_start": 487,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348170.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"hgvs_c": "c.487A>C",
"hgvs_p": "p.Met163Leu",
"transcript": "ENST00000591399.5",
"protein_id": "ENSP00000467579.1",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 261,
"cds_start": 487,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591399.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"hgvs_c": "c.487A>C",
"hgvs_p": "p.Met163Leu",
"transcript": "ENST00000590221.5",
"protein_id": "ENSP00000466450.1",
"transcript_support_level": 3,
"aa_start": 163,
"aa_end": null,
"aa_length": 257,
"cds_start": 487,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590221.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"hgvs_c": "c.421A>C",
"hgvs_p": "p.Met141Leu",
"transcript": "ENST00000585462.5",
"protein_id": "ENSP00000467583.1",
"transcript_support_level": 3,
"aa_start": 141,
"aa_end": null,
"aa_length": 239,
"cds_start": 421,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585462.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"hgvs_c": "c.487A>C",
"hgvs_p": "p.Met163Leu",
"transcript": "ENST00000626827.2",
"protein_id": "ENSP00000486675.1",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 231,
"cds_start": 487,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626827.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"hgvs_c": "c.181A>C",
"hgvs_p": "p.Met61Leu",
"transcript": "ENST00000586257.5",
"protein_id": "ENSP00000464782.1",
"transcript_support_level": 3,
"aa_start": 61,
"aa_end": null,
"aa_length": 204,
"cds_start": 181,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586257.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"hgvs_c": "c.421A>C",
"hgvs_p": "p.Met141Leu",
"transcript": "ENST00000593002.1",
"protein_id": "ENSP00000464768.1",
"transcript_support_level": 4,
"aa_start": 141,
"aa_end": null,
"aa_length": 166,
"cds_start": 421,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593002.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"hgvs_c": "c.289A>C",
"hgvs_p": "p.Met97Leu",
"transcript": "ENST00000589642.5",
"protein_id": "ENSP00000468793.1",
"transcript_support_level": 3,
"aa_start": 97,
"aa_end": null,
"aa_length": 151,
"cds_start": 289,
"cds_end": null,
"cds_length": 457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589642.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"hgvs_c": "c.259A>C",
"hgvs_p": "p.Met87Leu",
"transcript": "ENST00000587374.5",
"protein_id": "ENSP00000464820.1",
"transcript_support_level": 4,
"aa_start": 87,
"aa_end": null,
"aa_length": 113,
"cds_start": 259,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587374.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"hgvs_c": "c.421A>C",
"hgvs_p": "p.Met141Leu",
"transcript": "XM_047435712.1",
"protein_id": "XP_047291668.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 239,
"cds_start": 421,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435712.1"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"hgvs_c": "c.398-232A>C",
"hgvs_p": null,
"transcript": "NM_001330499.2",
"protein_id": "NP_001317428.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 216,
"cds_start": null,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330499.2"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"hgvs_c": "c.398-232A>C",
"hgvs_p": null,
"transcript": "ENST00000433525.6",
"protein_id": "ENSP00000415251.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 216,
"cds_start": null,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433525.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"hgvs_c": "n.432A>C",
"hgvs_p": null,
"transcript": "ENST00000416574.6",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000416574.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"hgvs_c": "n.1741A>C",
"hgvs_p": null,
"transcript": "ENST00000587642.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000587642.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"hgvs_c": "n.*544A>C",
"hgvs_p": null,
"transcript": "ENST00000588373.5",
"protein_id": "ENSP00000465052.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000588373.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"hgvs_c": "n.487A>C",
"hgvs_p": null,
"transcript": "ENST00000589236.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000589236.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"hgvs_c": "n.487A>C",
"hgvs_p": null,
"transcript": "ENST00000591831.5",
"protein_id": "ENSP00000466999.1",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000591831.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"hgvs_c": "n.*544A>C",
"hgvs_p": null,
"transcript": "ENST00000588373.5",
"protein_id": "ENSP00000465052.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000588373.5"
}
],
"gene_symbol": "WBP2",
"gene_hgnc_id": 12738,
"dbsnp": "rs1555604710",
"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": 0.22710180282592773,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.069,
"revel_prediction": "Benign",
"alphamissense_score": 0.0843,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.496,
"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_012478.4",
"gene_symbol": "WBP2",
"hgnc_id": 12738,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.487A>C",
"hgvs_p": "p.Met163Leu"
}
],
"clinvar_disease": " autosomal recessive 107,Hearing loss",
"clinvar_classification": "no classifications from unflagged records",
"clinvar_review_status": "no classifications from unflagged records",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Hearing loss, autosomal recessive 107",
"pathogenicity_classification_combined": "no classifications from unflagged records",
"custom_annotations": null
}
],
"message": null
}