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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: 7-128855209-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128855209&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "FLNC",
"hgnc_id": 3756,
"hgvs_c": "c.7146G>A",
"hgvs_p": "p.Glu2382Glu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_001458.5",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FLNC-AS1",
"hgnc_id": 53474,
"hgvs_c": "n.103-1812C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -10,
"transcript": "ENST00000469965.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_score": -17,
"allele_count_reference_population": 35,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "7",
"clinvar_classification": "Likely benign",
"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_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5199999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 2725,
"aa_ref": "E",
"aa_start": 2382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9159,
"cdna_start": 7378,
"cds_end": null,
"cds_length": 8178,
"cds_start": 7146,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001458.5",
"gene_hgnc_id": 3756,
"gene_symbol": "FLNC",
"hgvs_c": "c.7146G>A",
"hgvs_p": "p.Glu2382Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000325888.13",
"protein_coding": true,
"protein_id": "NP_001449.3",
"strand": true,
"transcript": "NM_001458.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 2725,
"aa_ref": "E",
"aa_start": 2382,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9159,
"cdna_start": 7378,
"cds_end": null,
"cds_length": 8178,
"cds_start": 7146,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000325888.13",
"gene_hgnc_id": 3756,
"gene_symbol": "FLNC",
"hgvs_c": "c.7146G>A",
"hgvs_p": "p.Glu2382Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001458.5",
"protein_coding": true,
"protein_id": "ENSP00000327145.8",
"strand": true,
"transcript": "ENST00000325888.13",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 2692,
"aa_ref": "E",
"aa_start": 2349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9042,
"cdna_start": 7259,
"cds_end": null,
"cds_length": 8079,
"cds_start": 7047,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000346177.6",
"gene_hgnc_id": 3756,
"gene_symbol": "FLNC",
"hgvs_c": "c.7047G>A",
"hgvs_p": "p.Glu2349Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344002.6",
"strand": true,
"transcript": "ENST00000346177.6",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 2692,
"aa_ref": "E",
"aa_start": 2349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9060,
"cdna_start": 7279,
"cds_end": null,
"cds_length": 8079,
"cds_start": 7047,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "NM_001127487.2",
"gene_hgnc_id": 3756,
"gene_symbol": "FLNC",
"hgvs_c": "c.7047G>A",
"hgvs_p": "p.Glu2349Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120959.1",
"strand": true,
"transcript": "NM_001127487.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 2691,
"aa_ref": "E",
"aa_start": 2348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9055,
"cdna_start": 7274,
"cds_end": null,
"cds_length": 8076,
"cds_start": 7044,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000950263.1",
"gene_hgnc_id": 3756,
"gene_symbol": "FLNC",
"hgvs_c": "c.7044G>A",
"hgvs_p": "p.Glu2348Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620322.1",
"strand": true,
"transcript": "ENST00000950263.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 2679,
"aa_ref": "E",
"aa_start": 2336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9023,
"cdna_start": 7240,
"cds_end": null,
"cds_length": 8040,
"cds_start": 7008,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000714183.1",
"gene_hgnc_id": 3756,
"gene_symbol": "FLNC",
"hgvs_c": "c.7008G>A",
"hgvs_p": "p.Glu2336Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519472.1",
"strand": true,
"transcript": "ENST00000714183.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 2599,
"aa_ref": "E",
"aa_start": 2256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8878,
"cdna_start": 7094,
"cds_end": null,
"cds_length": 7800,
"cds_start": 6768,
"consequences": [
"synonymous_variant"
],
"exon_count": 47,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000950262.1",
"gene_hgnc_id": 3756,
"gene_symbol": "FLNC",
"hgvs_c": "c.6768G>A",
"hgvs_p": "p.Glu2256Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620321.1",
"strand": true,
"transcript": "ENST00000950262.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 2584,
"aa_ref": "E",
"aa_start": 2286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8874,
"cdna_start": 7087,
"cds_end": null,
"cds_length": 7755,
"cds_start": 6858,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000714184.1",
"gene_hgnc_id": 3756,
"gene_symbol": "FLNC",
"hgvs_c": "c.6858G>A",
"hgvs_p": "p.Glu2286Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519473.1",
"strand": true,
"transcript": "ENST00000714184.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9476,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 47,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000714185.1",
"gene_hgnc_id": 3756,
"gene_symbol": "FLNC",
"hgvs_c": "n.*2184G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519474.1",
"strand": true,
"transcript": "ENST00000714185.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9079,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 48,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000714186.1",
"gene_hgnc_id": 3756,
"gene_symbol": "FLNC",
"hgvs_c": "n.*917G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519475.1",
"strand": true,
"transcript": "ENST00000714186.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9476,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 47,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000714185.1",
"gene_hgnc_id": 3756,
"gene_symbol": "FLNC",
"hgvs_c": "n.*2184G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519474.1",
"strand": true,
"transcript": "ENST00000714185.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9079,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 48,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000714186.1",
"gene_hgnc_id": 3756,
"gene_symbol": "FLNC",
"hgvs_c": "n.*917G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519475.1",
"strand": true,
"transcript": "ENST00000714186.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 559,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000469965.1",
"gene_hgnc_id": 53474,
"gene_symbol": "FLNC-AS1",
"hgvs_c": "n.103-1812C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000469965.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 559,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NR_149055.1",
"gene_hgnc_id": 53474,
"gene_symbol": "FLNC-AS1",
"hgvs_c": "n.103-1812C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_149055.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs779162678",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000021731059,
"gene_hgnc_id": 3756,
"gene_symbol": "FLNC",
"gnomad_exomes_ac": 34,
"gnomad_exomes_af": 0.0000233119,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657402,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy 5|Cardiovascular phenotype|not provided|FLNC-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.219,
"pos": 128855209,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001458.5"
}
]
}