← Back to variant description
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: 19-8103661-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=8103661&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 8103661,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000600128.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.4840G>A",
"hgvs_p": "p.Gly1614Ser",
"transcript": "NM_032447.5",
"protein_id": "NP_115823.3",
"transcript_support_level": null,
"aa_start": 1614,
"aa_end": null,
"aa_length": 2809,
"cds_start": 4840,
"cds_end": null,
"cds_length": 8430,
"cdna_start": 5001,
"cdna_end": null,
"cdna_length": 9108,
"mane_select": "ENST00000600128.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.4840G>A",
"hgvs_p": "p.Gly1614Ser",
"transcript": "ENST00000600128.6",
"protein_id": "ENSP00000470498.1",
"transcript_support_level": 1,
"aa_start": 1614,
"aa_end": null,
"aa_length": 2809,
"cds_start": 4840,
"cds_end": null,
"cds_length": 8430,
"cdna_start": 5001,
"cdna_end": null,
"cdna_length": 9108,
"mane_select": "NM_032447.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.4840G>A",
"hgvs_p": "p.Gly1614Ser",
"transcript": "ENST00000270509.6",
"protein_id": "ENSP00000270509.2",
"transcript_support_level": 1,
"aa_start": 1614,
"aa_end": null,
"aa_length": 2809,
"cds_start": 4840,
"cds_end": null,
"cds_length": 8430,
"cdna_start": 5126,
"cdna_end": null,
"cdna_length": 9232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.4840G>A",
"hgvs_p": "p.Gly1614Ser",
"transcript": "ENST00000601739.5",
"protein_id": "ENSP00000472324.1",
"transcript_support_level": 1,
"aa_start": 1614,
"aa_end": null,
"aa_length": 2809,
"cds_start": 4840,
"cds_end": null,
"cds_length": 8430,
"cdna_start": 4980,
"cdna_end": null,
"cdna_length": 9086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.4966G>A",
"hgvs_p": "p.Gly1656Ser",
"transcript": "ENST00000651877.1",
"protein_id": "ENSP00000498507.1",
"transcript_support_level": null,
"aa_start": 1656,
"aa_end": null,
"aa_length": 2851,
"cds_start": 4966,
"cds_end": null,
"cds_length": 8556,
"cdna_start": 4983,
"cdna_end": null,
"cdna_length": 9090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.4840G>A",
"hgvs_p": "p.Gly1614Ser",
"transcript": "NM_001321431.2",
"protein_id": "NP_001308360.1",
"transcript_support_level": null,
"aa_start": 1614,
"aa_end": null,
"aa_length": 2809,
"cds_start": 4840,
"cds_end": null,
"cds_length": 8430,
"cdna_start": 4980,
"cdna_end": null,
"cdna_length": 9087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.4966G>A",
"hgvs_p": "p.Gly1656Ser",
"transcript": "XM_017027379.2",
"protein_id": "XP_016882868.1",
"transcript_support_level": null,
"aa_start": 1656,
"aa_end": null,
"aa_length": 2851,
"cds_start": 4966,
"cds_end": null,
"cds_length": 8556,
"cdna_start": 5106,
"cdna_end": null,
"cdna_length": 9213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.4840G>A",
"hgvs_p": "p.Gly1614Ser",
"transcript": "XM_017027372.2",
"protein_id": "XP_016882861.1",
"transcript_support_level": null,
"aa_start": 1614,
"aa_end": null,
"aa_length": 2809,
"cds_start": 4840,
"cds_end": null,
"cds_length": 8430,
"cdna_start": 4974,
"cdna_end": null,
"cdna_length": 9081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.4840G>A",
"hgvs_p": "p.Gly1614Ser",
"transcript": "XM_017027373.2",
"protein_id": "XP_016882862.1",
"transcript_support_level": null,
"aa_start": 1614,
"aa_end": null,
"aa_length": 2789,
"cds_start": 4840,
"cds_end": null,
"cds_length": 8370,
"cdna_start": 4980,
"cdna_end": null,
"cdna_length": 9027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.4744G>A",
"hgvs_p": "p.Gly1582Ser",
"transcript": "XM_017027374.3",
"protein_id": "XP_016882863.1",
"transcript_support_level": null,
"aa_start": 1582,
"aa_end": null,
"aa_length": 2777,
"cds_start": 4744,
"cds_end": null,
"cds_length": 8334,
"cdna_start": 4884,
"cdna_end": null,
"cdna_length": 8991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.4717G>A",
"hgvs_p": "p.Gly1573Ser",
"transcript": "XM_017027375.3",
"protein_id": "XP_016882864.1",
"transcript_support_level": null,
"aa_start": 1573,
"aa_end": null,
"aa_length": 2768,
"cds_start": 4717,
"cds_end": null,
"cds_length": 8307,
"cdna_start": 4857,
"cdna_end": null,
"cdna_length": 8964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.4840G>A",
"hgvs_p": "p.Gly1614Ser",
"transcript": "XM_017027376.2",
"protein_id": "XP_016882865.1",
"transcript_support_level": null,
"aa_start": 1614,
"aa_end": null,
"aa_length": 2766,
"cds_start": 4840,
"cds_end": null,
"cds_length": 8301,
"cdna_start": 4980,
"cdna_end": null,
"cdna_length": 8958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.2257G>A",
"hgvs_p": "p.Gly753Ser",
"transcript": "XM_017027377.3",
"protein_id": "XP_016882866.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 1948,
"cds_start": 2257,
"cds_end": null,
"cds_length": 5847,
"cdna_start": 2305,
"cdna_end": null,
"cdna_length": 6412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Gly400Ser",
"transcript": "XM_017027378.3",
"protein_id": "XP_016882867.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1595,
"cds_start": 1198,
"cds_end": null,
"cds_length": 4788,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 5554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FBN3",
"gene_hgnc_id": 18794,
"dbsnp": "rs33967815",
"frequency_reference_population": 0.28716758,
"hom_count_reference_population": 72056,
"allele_count_reference_population": 463056,
"gnomad_exomes_af": 0.293438,
"gnomad_genomes_af": 0.226901,
"gnomad_exomes_ac": 428578,
"gnomad_genomes_ac": 34478,
"gnomad_exomes_homalt": 67163,
"gnomad_genomes_homalt": 4893,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0020065903663635254,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.552,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0704,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.593,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": "ENST00000600128.6",
"gene_symbol": "FBN3",
"hgnc_id": 18794,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4840G>A",
"hgvs_p": "p.Gly1614Ser"
}
],
"clinvar_disease": "FBN3-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided|FBN3-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}