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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: 7-128840598-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128840598&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 128840598,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000325888.13",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Glu534Lys",
"transcript": "NM_001458.5",
"protein_id": "NP_001449.3",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 2725,
"cds_start": 1600,
"cds_end": null,
"cds_length": 8178,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 9159,
"mane_select": "ENST00000325888.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Glu534Lys",
"transcript": "ENST00000325888.13",
"protein_id": "ENSP00000327145.8",
"transcript_support_level": 1,
"aa_start": 534,
"aa_end": null,
"aa_length": 2725,
"cds_start": 1600,
"cds_end": null,
"cds_length": 8178,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 9159,
"mane_select": "NM_001458.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Glu534Lys",
"transcript": "ENST00000346177.6",
"protein_id": "ENSP00000344002.6",
"transcript_support_level": 1,
"aa_start": 534,
"aa_end": null,
"aa_length": 2692,
"cds_start": 1600,
"cds_end": null,
"cds_length": 8079,
"cdna_start": 1812,
"cdna_end": null,
"cdna_length": 9042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Glu534Lys",
"transcript": "NM_001127487.2",
"protein_id": "NP_001120959.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 2692,
"cds_start": 1600,
"cds_end": null,
"cds_length": 8079,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 9060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Glu534Lys",
"transcript": "ENST00000714183.1",
"protein_id": "ENSP00000519472.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 2679,
"cds_start": 1600,
"cds_end": null,
"cds_length": 8040,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 9023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Glu534Lys",
"transcript": "ENST00000714184.1",
"protein_id": "ENSP00000519473.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 2584,
"cds_start": 1600,
"cds_end": null,
"cds_length": 7755,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 8874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "n.1600G>A",
"hgvs_p": null,
"transcript": "ENST00000714185.1",
"protein_id": "ENSP00000519474.1",
"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": 9476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "n.1600G>A",
"hgvs_p": null,
"transcript": "ENST00000714186.1",
"protein_id": "ENSP00000519475.1",
"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": 9079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"dbsnp": "rs201905890",
"frequency_reference_population": 0.0008412742,
"hom_count_reference_population": 3,
"allele_count_reference_population": 1358,
"gnomad_exomes_af": 0.000846854,
"gnomad_genomes_af": 0.000787732,
"gnomad_exomes_ac": 1238,
"gnomad_genomes_ac": 120,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07272341847419739,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.191,
"revel_prediction": "Benign",
"alphamissense_score": 0.2604,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.23,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000325888.13",
"gene_symbol": "FLNC",
"hgnc_id": 3756,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Glu534Lys"
}
],
"clinvar_disease": " Dominant,Cardiomyopathy,Cardiovascular phenotype,Dilated Cardiomyopathy,Distal myopathy with posterior leg and anterior hand involvement,FLNC-related disorder,Hypertrophic cardiomyopathy 26,Myofibrillar myopathy 5,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:7 B:2",
"phenotype_combined": "not provided|Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy 26|not specified|Cardiovascular phenotype|Cardiomyopathy|FLNC-related disorder|Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}