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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: 3-58132828-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=58132828&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 58132828,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001164317.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.4411G>A",
"hgvs_p": "p.Val1471Met",
"transcript": "NM_001457.4",
"protein_id": "NP_001448.2",
"transcript_support_level": null,
"aa_start": 1471,
"aa_end": null,
"aa_length": 2602,
"cds_start": 4411,
"cds_end": null,
"cds_length": 7809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295956.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001457.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.4411G>A",
"hgvs_p": "p.Val1471Met",
"transcript": "ENST00000295956.9",
"protein_id": "ENSP00000295956.5",
"transcript_support_level": 1,
"aa_start": 1471,
"aa_end": null,
"aa_length": 2602,
"cds_start": 4411,
"cds_end": null,
"cds_length": 7809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001457.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295956.9"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.4504G>A",
"hgvs_p": "p.Val1502Met",
"transcript": "ENST00000490882.5",
"protein_id": "ENSP00000420213.1",
"transcript_support_level": 1,
"aa_start": 1502,
"aa_end": null,
"aa_length": 2633,
"cds_start": 4504,
"cds_end": null,
"cds_length": 7902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490882.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.4411G>A",
"hgvs_p": "p.Val1471Met",
"transcript": "ENST00000429972.6",
"protein_id": "ENSP00000415599.2",
"transcript_support_level": 1,
"aa_start": 1471,
"aa_end": null,
"aa_length": 2591,
"cds_start": 4411,
"cds_end": null,
"cds_length": 7776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429972.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.4411G>A",
"hgvs_p": "p.Val1471Met",
"transcript": "ENST00000358537.7",
"protein_id": "ENSP00000351339.3",
"transcript_support_level": 1,
"aa_start": 1471,
"aa_end": null,
"aa_length": 2578,
"cds_start": 4411,
"cds_end": null,
"cds_length": 7737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358537.7"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.3904G>A",
"hgvs_p": "p.Val1302Met",
"transcript": "ENST00000493452.5",
"protein_id": "ENSP00000418510.1",
"transcript_support_level": 1,
"aa_start": 1302,
"aa_end": null,
"aa_length": 2409,
"cds_start": 3904,
"cds_end": null,
"cds_length": 7230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493452.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.751G>A",
"hgvs_p": null,
"transcript": "ENST00000481470.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000481470.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.4504G>A",
"hgvs_p": "p.Val1502Met",
"transcript": "NM_001164317.2",
"protein_id": "NP_001157789.1",
"transcript_support_level": null,
"aa_start": 1502,
"aa_end": null,
"aa_length": 2633,
"cds_start": 4504,
"cds_end": null,
"cds_length": 7902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164317.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.4411G>A",
"hgvs_p": "p.Val1471Met",
"transcript": "NM_001164318.2",
"protein_id": "NP_001157790.1",
"transcript_support_level": null,
"aa_start": 1471,
"aa_end": null,
"aa_length": 2591,
"cds_start": 4411,
"cds_end": null,
"cds_length": 7776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164318.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.4411G>A",
"hgvs_p": "p.Val1471Met",
"transcript": "NM_001164319.2",
"protein_id": "NP_001157791.1",
"transcript_support_level": null,
"aa_start": 1471,
"aa_end": null,
"aa_length": 2578,
"cds_start": 4411,
"cds_end": null,
"cds_length": 7737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164319.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.4504G>A",
"hgvs_p": "p.Val1502Met",
"transcript": "ENST00000682871.1",
"protein_id": "ENSP00000507805.1",
"transcript_support_level": null,
"aa_start": 1502,
"aa_end": null,
"aa_length": 2562,
"cds_start": 4504,
"cds_end": null,
"cds_length": 7689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682871.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "c.1747+27612G>A",
"hgvs_p": null,
"transcript": "ENST00000946856.1",
"protein_id": "ENSP00000616915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 785,
"cds_start": null,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946856.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.6453G>A",
"hgvs_p": null,
"transcript": "ENST00000682868.1",
"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": "retained_intron",
"feature": "ENST00000682868.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.*3036G>A",
"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": 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": "ENST00000684506.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.4504G>A",
"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": 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": "ENST00000684607.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.*3036G>A",
"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": 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": "ENST00000684506.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"hgvs_c": "n.-9G>A",
"hgvs_p": null,
"transcript": "ENST00000682297.1",
"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": "ENST00000682297.1"
}
],
"gene_symbol": "FLNB",
"gene_hgnc_id": 3755,
"dbsnp": "rs12632456",
"frequency_reference_population": 0.31194326,
"hom_count_reference_population": 98553,
"allele_count_reference_population": 503376,
"gnomad_exomes_af": 0.30279,
"gnomad_genomes_af": 0.399955,
"gnomad_exomes_ac": 442578,
"gnomad_genomes_ac": 60798,
"gnomad_exomes_homalt": 83621,
"gnomad_genomes_homalt": 14932,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 8.890213507584122e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.431,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1242,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.035,
"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,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001164317.2",
"gene_symbol": "FLNB",
"hgnc_id": 3755,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4504G>A",
"hgvs_p": "p.Val1502Met"
}
],
"clinvar_disease": "FLNB-Related Spectrum Disorders,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "not specified|FLNB-Related Spectrum Disorders|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}