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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: 7-128837201-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128837201&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 128837201,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000325888.13",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "NM_001458.5",
"protein_id": "NP_001449.3",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 2725,
"cds_start": 643,
"cds_end": null,
"cds_length": 8178,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 9159,
"mane_select": "ENST00000325888.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "ENST00000325888.13",
"protein_id": "ENSP00000327145.8",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 2725,
"cds_start": 643,
"cds_end": null,
"cds_length": 8178,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 9159,
"mane_select": "NM_001458.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "ENST00000346177.6",
"protein_id": "ENSP00000344002.6",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 2692,
"cds_start": 643,
"cds_end": null,
"cds_length": 8079,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 9042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "NM_001127487.2",
"protein_id": "NP_001120959.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 2692,
"cds_start": 643,
"cds_end": null,
"cds_length": 8079,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 9060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "ENST00000714183.1",
"protein_id": "ENSP00000519472.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 2679,
"cds_start": 643,
"cds_end": null,
"cds_length": 8040,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 9023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Val215Met",
"transcript": "ENST00000714184.1",
"protein_id": "ENSP00000519473.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 2584,
"cds_start": 643,
"cds_end": null,
"cds_length": 7755,
"cdna_start": 872,
"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": 3,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "n.643G>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": 3,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "n.643G>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": "rs754309921",
"frequency_reference_population": 0.00008916591,
"hom_count_reference_population": 0,
"allele_count_reference_population": 143,
"gnomad_exomes_af": 0.0000902475,
"gnomad_genomes_af": 0.0000788498,
"gnomad_exomes_ac": 131,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7906933426856995,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.746,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.438,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.19,
"phylop100way_prediction": "Pathogenic",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,PP3,BS2",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 4,
"pathogenic_score": 3,
"criteria": [
"PM1",
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000325888.13",
"gene_symbol": "FLNC",
"hgnc_id": 3756,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Val215Met"
}
],
"clinvar_disease": " Dominant,Cardiovascular phenotype,Dilated Cardiomyopathy,Distal myopathy with posterior leg and anterior hand involvement,FLNC-related disorder,Hypertrophic cardiomyopathy 26,Myofibrillar myopathy 5,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:9 LB:1",
"phenotype_combined": "not provided|Distal myopathy with posterior leg and anterior hand involvement|Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Dilated Cardiomyopathy, Dominant|Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement|Cardiovascular phenotype|FLNC-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}