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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: 8-31064419-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=31064419&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 31064419,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000553.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRN",
"gene_hgnc_id": 12791,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile",
"transcript": "NM_000553.6",
"protein_id": "NP_000544.2",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 1432,
"cds_start": 340,
"cds_end": null,
"cds_length": 4299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000298139.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000553.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRN",
"gene_hgnc_id": 12791,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile",
"transcript": "ENST00000298139.7",
"protein_id": "ENSP00000298139.5",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 1432,
"cds_start": 340,
"cds_end": null,
"cds_length": 4299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000553.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298139.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRN",
"gene_hgnc_id": 12791,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile",
"transcript": "ENST00000966176.1",
"protein_id": "ENSP00000636235.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 1437,
"cds_start": 340,
"cds_end": null,
"cds_length": 4314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966176.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRN",
"gene_hgnc_id": 12791,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile",
"transcript": "ENST00000860283.1",
"protein_id": "ENSP00000530342.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 1432,
"cds_start": 340,
"cds_end": null,
"cds_length": 4299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860283.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRN",
"gene_hgnc_id": 12791,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile",
"transcript": "ENST00000860286.1",
"protein_id": "ENSP00000530345.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 1432,
"cds_start": 340,
"cds_end": null,
"cds_length": 4299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860286.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRN",
"gene_hgnc_id": 12791,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile",
"transcript": "ENST00000928034.1",
"protein_id": "ENSP00000598093.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 1432,
"cds_start": 340,
"cds_end": null,
"cds_length": 4299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928034.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRN",
"gene_hgnc_id": 12791,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile",
"transcript": "ENST00000928033.1",
"protein_id": "ENSP00000598092.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 1431,
"cds_start": 340,
"cds_end": null,
"cds_length": 4296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928033.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRN",
"gene_hgnc_id": 12791,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile",
"transcript": "ENST00000966175.1",
"protein_id": "ENSP00000636234.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 1426,
"cds_start": 340,
"cds_end": null,
"cds_length": 4281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966175.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRN",
"gene_hgnc_id": 12791,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile",
"transcript": "ENST00000860285.1",
"protein_id": "ENSP00000530344.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 1401,
"cds_start": 340,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860285.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRN",
"gene_hgnc_id": 12791,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile",
"transcript": "ENST00000860284.1",
"protein_id": "ENSP00000530343.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 1382,
"cds_start": 340,
"cds_end": null,
"cds_length": 4149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860284.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRN",
"gene_hgnc_id": 12791,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile",
"transcript": "XM_011544639.4",
"protein_id": "XP_011542941.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 1405,
"cds_start": 340,
"cds_end": null,
"cds_length": 4218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544639.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRN",
"gene_hgnc_id": 12791,
"hgvs_c": "n.580G>A",
"hgvs_p": null,
"transcript": "XR_949470.4",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_949470.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRN",
"gene_hgnc_id": 12791,
"hgvs_c": "n.580G>A",
"hgvs_p": null,
"transcript": "XR_949471.4",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_949471.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WRN",
"gene_hgnc_id": 12791,
"hgvs_c": "n.580G>A",
"hgvs_p": null,
"transcript": "XR_949472.4",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_949472.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "WRN",
"gene_hgnc_id": 12791,
"hgvs_c": "n.210-496G>A",
"hgvs_p": null,
"transcript": "ENST00000650667.1",
"protein_id": "ENSP00000498593.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650667.1"
}
],
"gene_symbol": "WRN",
"gene_hgnc_id": 12791,
"dbsnp": "rs2230009",
"frequency_reference_population": 0.06314727,
"hom_count_reference_population": 3572,
"allele_count_reference_population": 101876,
"gnomad_exomes_af": 0.0617794,
"gnomad_genomes_af": 0.0762854,
"gnomad_exomes_ac": 90271,
"gnomad_genomes_ac": 11605,
"gnomad_exomes_homalt": 3073,
"gnomad_genomes_homalt": 499,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0013432502746582031,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.058,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.036,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000553.6",
"gene_symbol": "WRN",
"hgnc_id": 12791,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Val114Ile"
}
],
"clinvar_disease": "Werner syndrome,Wiskott-Aldrich syndrome,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:9 O:1",
"phenotype_combined": "not specified|Werner syndrome|not provided|Wiskott-Aldrich syndrome",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}