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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: 3-58148778-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=58148778&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 58148778,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000295956.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.6017A>G",
"hgvs_p": "p.Lys2006Arg",
"transcript": "NM_001457.4",
"protein_id": "NP_001448.2",
"transcript_support_level": null,
"aa_start": 2006,
"aa_end": null,
"aa_length": 2602,
"cds_start": 6017,
"cds_end": null,
"cds_length": 7809,
"cdna_start": 6160,
"cdna_end": null,
"cdna_length": 9441,
"mane_select": "ENST00000295956.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.6017A>G",
"hgvs_p": "p.Lys2006Arg",
"transcript": "ENST00000295956.9",
"protein_id": "ENSP00000295956.5",
"transcript_support_level": 1,
"aa_start": 2006,
"aa_end": null,
"aa_length": 2602,
"cds_start": 6017,
"cds_end": null,
"cds_length": 7809,
"cdna_start": 6160,
"cdna_end": null,
"cdna_length": 9441,
"mane_select": "NM_001457.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.6110A>G",
"hgvs_p": "p.Lys2037Arg",
"transcript": "ENST00000490882.5",
"protein_id": "ENSP00000420213.1",
"transcript_support_level": 1,
"aa_start": 2037,
"aa_end": null,
"aa_length": 2633,
"cds_start": 6110,
"cds_end": null,
"cds_length": 7902,
"cdna_start": 6275,
"cdna_end": null,
"cdna_length": 8079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.5984A>G",
"hgvs_p": "p.Lys1995Arg",
"transcript": "ENST00000429972.6",
"protein_id": "ENSP00000415599.2",
"transcript_support_level": 1,
"aa_start": 1995,
"aa_end": null,
"aa_length": 2591,
"cds_start": 5984,
"cds_end": null,
"cds_length": 7776,
"cdna_start": 6149,
"cdna_end": null,
"cdna_length": 9430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.5945A>G",
"hgvs_p": "p.Lys1982Arg",
"transcript": "ENST00000358537.7",
"protein_id": "ENSP00000351339.3",
"transcript_support_level": 1,
"aa_start": 1982,
"aa_end": null,
"aa_length": 2578,
"cds_start": 5945,
"cds_end": null,
"cds_length": 7737,
"cdna_start": 6110,
"cdna_end": null,
"cdna_length": 9391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.5438A>G",
"hgvs_p": "p.Lys1813Arg",
"transcript": "ENST00000493452.5",
"protein_id": "ENSP00000418510.1",
"transcript_support_level": 1,
"aa_start": 1813,
"aa_end": null,
"aa_length": 2409,
"cds_start": 5438,
"cds_end": null,
"cds_length": 7230,
"cdna_start": 5595,
"cdna_end": null,
"cdna_length": 7402,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.2285A>G",
"hgvs_p": null,
"transcript": "ENST00000481470.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 6497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.6110A>G",
"hgvs_p": "p.Lys2037Arg",
"transcript": "NM_001164317.2",
"protein_id": "NP_001157789.1",
"transcript_support_level": null,
"aa_start": 2037,
"aa_end": null,
"aa_length": 2633,
"cds_start": 6110,
"cds_end": null,
"cds_length": 7902,
"cdna_start": 6253,
"cdna_end": null,
"cdna_length": 9534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.5984A>G",
"hgvs_p": "p.Lys1995Arg",
"transcript": "NM_001164318.2",
"protein_id": "NP_001157790.1",
"transcript_support_level": null,
"aa_start": 1995,
"aa_end": null,
"aa_length": 2591,
"cds_start": 5984,
"cds_end": null,
"cds_length": 7776,
"cdna_start": 6127,
"cdna_end": null,
"cdna_length": 9408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.5945A>G",
"hgvs_p": "p.Lys1982Arg",
"transcript": "NM_001164319.2",
"protein_id": "NP_001157791.1",
"transcript_support_level": null,
"aa_start": 1982,
"aa_end": null,
"aa_length": 2578,
"cds_start": 5945,
"cds_end": null,
"cds_length": 7737,
"cdna_start": 6088,
"cdna_end": null,
"cdna_length": 9369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.5897A>G",
"hgvs_p": "p.Lys1966Arg",
"transcript": "ENST00000682871.1",
"protein_id": "ENSP00000507805.1",
"transcript_support_level": null,
"aa_start": 1966,
"aa_end": null,
"aa_length": 2562,
"cds_start": 5897,
"cds_end": null,
"cds_length": 7689,
"cdna_start": 6040,
"cdna_end": null,
"cdna_length": 9313,
"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": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.1369A>G",
"hgvs_p": null,
"transcript": "ENST00000682297.1",
"protein_id": null,
"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": 4642,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.2115A>G",
"hgvs_p": null,
"transcript": "ENST00000683925.1",
"protein_id": null,
"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": 2715,
"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": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.2328A>G",
"hgvs_p": null,
"transcript": "ENST00000684439.1",
"protein_id": null,
"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": 5601,
"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": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.*4570A>G",
"hgvs_p": null,
"transcript": "ENST00000684506.1",
"protein_id": "ENSP00000507728.1",
"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": 9552,
"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": 36,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.6038A>G",
"hgvs_p": null,
"transcript": "ENST00000684607.1",
"protein_id": "ENSP00000508224.1",
"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": 9338,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.*4570A>G",
"hgvs_p": null,
"transcript": "ENST00000684506.1",
"protein_id": "ENSP00000507728.1",
"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": 9552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"dbsnp": "rs62621996",
"frequency_reference_population": 0.011716896,
"hom_count_reference_population": 140,
"allele_count_reference_population": 18911,
"gnomad_exomes_af": 0.0119247,
"gnomad_genomes_af": 0.00972041,
"gnomad_exomes_ac": 17432,
"gnomad_genomes_ac": 1479,
"gnomad_exomes_homalt": 129,
"gnomad_genomes_homalt": 11,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.006599992513656616,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.215,
"revel_prediction": "Benign",
"alphamissense_score": 0.063,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.748,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000295956.9",
"gene_symbol": "FLNB",
"hgnc_id": 3755,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.6017A>G",
"hgvs_p": "p.Lys2006Arg"
}
],
"clinvar_disease": "Atelosteogenesis type I,Atelosteogenesis type III,Boomerang dysplasia,Connective tissue disorder,FLNB-Related Spectrum Disorders,Larsen syndrome,Spondylocarpotarsal synostosis syndrome,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:5",
"phenotype_combined": "not specified|FLNB-Related Spectrum Disorders|not provided|Connective tissue disorder|Larsen syndrome;Boomerang dysplasia;Atelosteogenesis type III;Atelosteogenesis type I;Spondylocarpotarsal synostosis syndrome",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}