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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: 3-13637835-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=13637835&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 13637835,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001004019.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN2",
"gene_hgnc_id": 3601,
"hgvs_c": "c.3612C>T",
"hgvs_p": "p.Asp1204Asp",
"transcript": "NM_001004019.2",
"protein_id": "NP_001004019.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3612,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000404922.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004019.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN2",
"gene_hgnc_id": 3601,
"hgvs_c": "c.3612C>T",
"hgvs_p": "p.Asp1204Asp",
"transcript": "ENST00000404922.8",
"protein_id": "ENSP00000384169.3",
"transcript_support_level": 5,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3612,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001004019.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404922.8"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN2",
"gene_hgnc_id": 3601,
"hgvs_c": "c.3471C>T",
"hgvs_p": "p.Asp1157Asp",
"transcript": "ENST00000295760.11",
"protein_id": "ENSP00000295760.7",
"transcript_support_level": 1,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3471,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295760.11"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN2",
"gene_hgnc_id": 3601,
"hgvs_c": "c.3612C>T",
"hgvs_p": "p.Asp1204Asp",
"transcript": "NM_001165035.2",
"protein_id": "NP_001158507.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3612,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165035.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN2",
"gene_hgnc_id": 3601,
"hgvs_c": "c.3612C>T",
"hgvs_p": "p.Asp1204Asp",
"transcript": "ENST00000492059.5",
"protein_id": "ENSP00000420042.1",
"transcript_support_level": 2,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3612,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000492059.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN2",
"gene_hgnc_id": 3601,
"hgvs_c": "c.3612C>T",
"hgvs_p": "p.Asp1204Asp",
"transcript": "ENST00000952649.1",
"protein_id": "ENSP00000622708.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3612,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952649.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN2",
"gene_hgnc_id": 3601,
"hgvs_c": "c.3612C>T",
"hgvs_p": "p.Asp1204Asp",
"transcript": "ENST00000952651.1",
"protein_id": "ENSP00000622710.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3612,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952651.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN2",
"gene_hgnc_id": 3601,
"hgvs_c": "c.3606C>T",
"hgvs_p": "p.Asp1202Asp",
"transcript": "ENST00000859692.1",
"protein_id": "ENSP00000529751.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3606,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859692.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN2",
"gene_hgnc_id": 3601,
"hgvs_c": "c.3471C>T",
"hgvs_p": "p.Asp1157Asp",
"transcript": "NM_001998.3",
"protein_id": "NP_001989.2",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3471,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001998.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN2",
"gene_hgnc_id": 3601,
"hgvs_c": "c.3471C>T",
"hgvs_p": "p.Asp1157Asp",
"transcript": "ENST00000939212.1",
"protein_id": "ENSP00000609271.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3471,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939212.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN2",
"gene_hgnc_id": 3601,
"hgvs_c": "c.3471C>T",
"hgvs_p": "p.Asp1157Asp",
"transcript": "ENST00000952650.1",
"protein_id": "ENSP00000622709.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3471,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952650.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN2",
"gene_hgnc_id": 3601,
"hgvs_c": "c.3471C>T",
"hgvs_p": "p.Asp1157Asp",
"transcript": "ENST00000952652.1",
"protein_id": "ENSP00000622711.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3471,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952652.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN2",
"gene_hgnc_id": 3601,
"hgvs_c": "c.3471C>T",
"hgvs_p": "p.Asp1157Asp",
"transcript": "ENST00000952653.1",
"protein_id": "ENSP00000622712.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3471,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952653.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN2",
"gene_hgnc_id": 3601,
"hgvs_c": "c.3465C>T",
"hgvs_p": "p.Asp1155Asp",
"transcript": "ENST00000952648.1",
"protein_id": "ENSP00000622707.1",
"transcript_support_level": null,
"aa_start": 1155,
"aa_end": null,
"aa_length": 1182,
"cds_start": 3465,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952648.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN2",
"gene_hgnc_id": 3601,
"hgvs_c": "c.3369C>T",
"hgvs_p": "p.Asp1123Asp",
"transcript": "ENST00000939213.1",
"protein_id": "ENSP00000609272.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3369,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939213.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN2",
"gene_hgnc_id": 3601,
"hgvs_c": "c.3336C>T",
"hgvs_p": "p.Asp1112Asp",
"transcript": "ENST00000939211.1",
"protein_id": "ENSP00000609270.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1139,
"cds_start": 3336,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939211.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBLN2",
"gene_hgnc_id": 3601,
"hgvs_c": "c.2622C>T",
"hgvs_p": "p.Asp874Asp",
"transcript": "ENST00000859691.1",
"protein_id": "ENSP00000529750.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 901,
"cds_start": 2622,
"cds_end": null,
"cds_length": 2706,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859691.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FBLN2",
"gene_hgnc_id": 3601,
"hgvs_c": "c.252-262C>T",
"hgvs_p": null,
"transcript": "ENST00000295761.11",
"protein_id": "ENSP00000295761.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": null,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295761.11"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FBLN2",
"gene_hgnc_id": 3601,
"hgvs_c": "c.133+263C>T",
"hgvs_p": null,
"transcript": "ENST00000421373.1",
"protein_id": "ENSP00000399224.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": null,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421373.1"
}
],
"gene_symbol": "FBLN2",
"gene_hgnc_id": 3601,
"dbsnp": "rs1061376",
"frequency_reference_population": 0.33620495,
"hom_count_reference_population": 97526,
"allele_count_reference_population": 542310,
"gnomad_exomes_af": 0.328562,
"gnomad_genomes_af": 0.409616,
"gnomad_exomes_ac": 480009,
"gnomad_genomes_ac": 62301,
"gnomad_exomes_homalt": 83200,
"gnomad_genomes_homalt": 14326,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.25999999046325684,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.053,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001004019.2",
"gene_symbol": "FBLN2",
"hgnc_id": 3601,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3612C>T",
"hgvs_p": "p.Asp1204Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}