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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: 19-8096566-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=8096566&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"PP3",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FBN3",
"hgnc_id": 18794,
"hgvs_c": "c.5417G>A",
"hgvs_p": "p.Arg1806Gln",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": -15,
"transcript": "NM_032447.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP6_Very_Strong,BA1",
"acmg_score": -15,
"allele_count_reference_population": 353777,
"alphamissense_prediction": null,
"alphamissense_score": 0.0753,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "19",
"clinvar_classification": "Benign",
"clinvar_disease": "FBN3-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0026800334453582764,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2809,
"aa_ref": "R",
"aa_start": 1806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9108,
"cdna_start": 5578,
"cds_end": null,
"cds_length": 8430,
"cds_start": 5417,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "NM_032447.5",
"gene_hgnc_id": 18794,
"gene_symbol": "FBN3",
"hgvs_c": "c.5417G>A",
"hgvs_p": "p.Arg1806Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000600128.6",
"protein_coding": true,
"protein_id": "NP_115823.3",
"strand": false,
"transcript": "NM_032447.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2809,
"aa_ref": "R",
"aa_start": 1806,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9108,
"cdna_start": 5578,
"cds_end": null,
"cds_length": 8430,
"cds_start": 5417,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000600128.6",
"gene_hgnc_id": 18794,
"gene_symbol": "FBN3",
"hgvs_c": "c.5417G>A",
"hgvs_p": "p.Arg1806Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032447.5",
"protein_coding": true,
"protein_id": "ENSP00000470498.1",
"strand": false,
"transcript": "ENST00000600128.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2809,
"aa_ref": "R",
"aa_start": 1806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9232,
"cdna_start": 5703,
"cds_end": null,
"cds_length": 8430,
"cds_start": 5417,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000270509.6",
"gene_hgnc_id": 18794,
"gene_symbol": "FBN3",
"hgvs_c": "c.5417G>A",
"hgvs_p": "p.Arg1806Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000270509.2",
"strand": false,
"transcript": "ENST00000270509.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2809,
"aa_ref": "R",
"aa_start": 1806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9086,
"cdna_start": 5557,
"cds_end": null,
"cds_length": 8430,
"cds_start": 5417,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000601739.5",
"gene_hgnc_id": 18794,
"gene_symbol": "FBN3",
"hgvs_c": "c.5417G>A",
"hgvs_p": "p.Arg1806Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472324.1",
"strand": false,
"transcript": "ENST00000601739.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2851,
"aa_ref": "R",
"aa_start": 1848,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9090,
"cdna_start": 5560,
"cds_end": null,
"cds_length": 8556,
"cds_start": 5543,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000651877.1",
"gene_hgnc_id": 18794,
"gene_symbol": "FBN3",
"hgvs_c": "c.5543G>A",
"hgvs_p": "p.Arg1848Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498507.1",
"strand": false,
"transcript": "ENST00000651877.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2809,
"aa_ref": "R",
"aa_start": 1806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9087,
"cdna_start": 5557,
"cds_end": null,
"cds_length": 8430,
"cds_start": 5417,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "NM_001321431.2",
"gene_hgnc_id": 18794,
"gene_symbol": "FBN3",
"hgvs_c": "c.5417G>A",
"hgvs_p": "p.Arg1806Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308360.1",
"strand": false,
"transcript": "NM_001321431.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2789,
"aa_ref": "R",
"aa_start": 1806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9146,
"cdna_start": 5679,
"cds_end": null,
"cds_length": 8370,
"cds_start": 5417,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000924671.1",
"gene_hgnc_id": 18794,
"gene_symbol": "FBN3",
"hgvs_c": "c.5417G>A",
"hgvs_p": "p.Arg1806Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594730.1",
"strand": false,
"transcript": "ENST00000924671.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2703,
"aa_ref": "R",
"aa_start": 1700,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8811,
"cdna_start": 5281,
"cds_end": null,
"cds_length": 8112,
"cds_start": 5099,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000924672.1",
"gene_hgnc_id": 18794,
"gene_symbol": "FBN3",
"hgvs_c": "c.5099G>A",
"hgvs_p": "p.Arg1700Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594731.1",
"strand": false,
"transcript": "ENST00000924672.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 186,
"aa_ref": "R",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 562,
"cdna_start": 198,
"cds_end": null,
"cds_length": 561,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000602121.1",
"gene_hgnc_id": 18794,
"gene_symbol": "FBN3",
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469256.1",
"strand": false,
"transcript": "ENST00000602121.1",
"transcript_support_level": 4
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2851,
"aa_ref": "R",
"aa_start": 1848,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9213,
"cdna_start": 5683,
"cds_end": null,
"cds_length": 8556,
"cds_start": 5543,
"consequences": [
"missense_variant"
],
"exon_count": 65,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_017027379.2",
"gene_hgnc_id": 18794,
"gene_symbol": "FBN3",
"hgvs_c": "c.5543G>A",
"hgvs_p": "p.Arg1848Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882868.1",
"strand": false,
"transcript": "XM_017027379.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2809,
"aa_ref": "R",
"aa_start": 1806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9081,
"cdna_start": 5551,
"cds_end": null,
"cds_length": 8430,
"cds_start": 5417,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_017027372.2",
"gene_hgnc_id": 18794,
"gene_symbol": "FBN3",
"hgvs_c": "c.5417G>A",
"hgvs_p": "p.Arg1806Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882861.1",
"strand": false,
"transcript": "XM_017027372.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2789,
"aa_ref": "R",
"aa_start": 1806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9027,
"cdna_start": 5557,
"cds_end": null,
"cds_length": 8370,
"cds_start": 5417,
"consequences": [
"missense_variant"
],
"exon_count": 64,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_017027373.2",
"gene_hgnc_id": 18794,
"gene_symbol": "FBN3",
"hgvs_c": "c.5417G>A",
"hgvs_p": "p.Arg1806Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882862.1",
"strand": false,
"transcript": "XM_017027373.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2777,
"aa_ref": "R",
"aa_start": 1774,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8991,
"cdna_start": 5461,
"cds_end": null,
"cds_length": 8334,
"cds_start": 5321,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "XM_017027374.3",
"gene_hgnc_id": 18794,
"gene_symbol": "FBN3",
"hgvs_c": "c.5321G>A",
"hgvs_p": "p.Arg1774Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882863.1",
"strand": false,
"transcript": "XM_017027374.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2768,
"aa_ref": "R",
"aa_start": 1765,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8964,
"cdna_start": 5434,
"cds_end": null,
"cds_length": 8307,
"cds_start": 5294,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "XM_017027375.3",
"gene_hgnc_id": 18794,
"gene_symbol": "FBN3",
"hgvs_c": "c.5294G>A",
"hgvs_p": "p.Arg1765Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882864.1",
"strand": false,
"transcript": "XM_017027375.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 2766,
"aa_ref": "R",
"aa_start": 1806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8958,
"cdna_start": 5557,
"cds_end": null,
"cds_length": 8301,
"cds_start": 5417,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_017027376.2",
"gene_hgnc_id": 18794,
"gene_symbol": "FBN3",
"hgvs_c": "c.5417G>A",
"hgvs_p": "p.Arg1806Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882865.1",
"strand": false,
"transcript": "XM_017027376.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1948,
"aa_ref": "R",
"aa_start": 945,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6412,
"cdna_start": 2882,
"cds_end": null,
"cds_length": 5847,
"cds_start": 2834,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_017027377.3",
"gene_hgnc_id": 18794,
"gene_symbol": "FBN3",
"hgvs_c": "c.2834G>A",
"hgvs_p": "p.Arg945Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882866.1",
"strand": false,
"transcript": "XM_017027377.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1595,
"aa_ref": "R",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5554,
"cdna_start": 2024,
"cds_end": null,
"cds_length": 4788,
"cds_start": 1775,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_017027378.3",
"gene_hgnc_id": 18794,
"gene_symbol": "FBN3",
"hgvs_c": "c.1775G>A",
"hgvs_p": "p.Arg592Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882867.1",
"strand": false,
"transcript": "XM_017027378.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs3829817",
"effect": "missense_variant",
"frequency_reference_population": 0.21970615,
"gene_hgnc_id": 18794,
"gene_symbol": "FBN3",
"gnomad_exomes_ac": 323939,
"gnomad_exomes_af": 0.222154,
"gnomad_exomes_homalt": 36506,
"gnomad_genomes_ac": 29838,
"gnomad_genomes_af": 0.196228,
"gnomad_genomes_homalt": 3072,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 39578,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided|FBN3-related disorder",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.253,
"pos": 8096566,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.192,
"splice_prediction_selected": "Pathogenic",
"splice_score_selected": 0.6200000047683716,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Pathogenic",
"spliceai_max_score": 0.62,
"transcript": "NM_032447.5"
}
]
}