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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: 7-128851271-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128851271&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 128851271,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000325888.13",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "c.5579G>A",
"hgvs_p": "p.Arg1860His",
"transcript": "NM_001458.5",
"protein_id": "NP_001449.3",
"transcript_support_level": null,
"aa_start": 1860,
"aa_end": null,
"aa_length": 2725,
"cds_start": 5579,
"cds_end": null,
"cds_length": 8178,
"cdna_start": 5811,
"cdna_end": null,
"cdna_length": 9159,
"mane_select": "ENST00000325888.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "c.5579G>A",
"hgvs_p": "p.Arg1860His",
"transcript": "ENST00000325888.13",
"protein_id": "ENSP00000327145.8",
"transcript_support_level": 1,
"aa_start": 1860,
"aa_end": null,
"aa_length": 2725,
"cds_start": 5579,
"cds_end": null,
"cds_length": 8178,
"cdna_start": 5811,
"cdna_end": null,
"cdna_length": 9159,
"mane_select": "NM_001458.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "c.5480G>A",
"hgvs_p": "p.Arg1827His",
"transcript": "ENST00000346177.6",
"protein_id": "ENSP00000344002.6",
"transcript_support_level": 1,
"aa_start": 1827,
"aa_end": null,
"aa_length": 2692,
"cds_start": 5480,
"cds_end": null,
"cds_length": 8079,
"cdna_start": 5692,
"cdna_end": null,
"cdna_length": 9042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "c.5480G>A",
"hgvs_p": "p.Arg1827His",
"transcript": "NM_001127487.2",
"protein_id": "NP_001120959.1",
"transcript_support_level": null,
"aa_start": 1827,
"aa_end": null,
"aa_length": 2692,
"cds_start": 5480,
"cds_end": null,
"cds_length": 8079,
"cdna_start": 5712,
"cdna_end": null,
"cdna_length": 9060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "c.5579G>A",
"hgvs_p": "p.Arg1860His",
"transcript": "ENST00000714183.1",
"protein_id": "ENSP00000519472.1",
"transcript_support_level": null,
"aa_start": 1860,
"aa_end": null,
"aa_length": 2679,
"cds_start": 5579,
"cds_end": null,
"cds_length": 8040,
"cdna_start": 5811,
"cdna_end": null,
"cdna_length": 9023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "c.5291G>A",
"hgvs_p": "p.Arg1764His",
"transcript": "ENST00000714184.1",
"protein_id": "ENSP00000519473.1",
"transcript_support_level": null,
"aa_start": 1764,
"aa_end": null,
"aa_length": 2584,
"cds_start": 5291,
"cds_end": null,
"cds_length": 7755,
"cdna_start": 5520,
"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": 33,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "n.*696G>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": 34,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "n.5579G>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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"hgvs_c": "n.*696G>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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FLNC-AS1",
"gene_hgnc_id": 53474,
"hgvs_c": "n.315+130C>T",
"hgvs_p": null,
"transcript": "ENST00000469965.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FLNC-AS1",
"gene_hgnc_id": 53474,
"hgvs_c": "n.315+130C>T",
"hgvs_p": null,
"transcript": "NR_149055.1",
"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": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FLNC",
"gene_hgnc_id": 3756,
"dbsnp": "rs1019973830",
"frequency_reference_population": 0.000011152859,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000102614,
"gnomad_genomes_af": 0.0000197179,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2452075183391571,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.147,
"revel_prediction": "Benign",
"alphamissense_score": 0.0937,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.955,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000325888.13",
"gene_symbol": "FLNC",
"hgnc_id": 3756,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5579G>A",
"hgvs_p": "p.Arg1860His"
},
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000469965.1",
"gene_symbol": "FLNC-AS1",
"hgnc_id": 53474,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.315+130C>T",
"hgvs_p": null
}
],
"clinvar_disease": " Dominant,Cardiovascular phenotype,Dilated Cardiomyopathy,Distal myopathy with posterior leg and anterior hand involvement,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:2 LB:1",
"phenotype_combined": "Myofibrillar myopathy 5;Dilated Cardiomyopathy, Dominant;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26|not provided|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}