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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: 19-49537091-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49537091&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "RCN3",
"hgnc_id": 21145,
"hgvs_c": "c.504C>T",
"hgvs_p": "p.Asp168Asp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_020650.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_score": -11,
"allele_count_reference_population": 6704,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1523,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "19",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.007635653018951416,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 328,
"aa_ref": "D",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1469,
"cdna_start": 566,
"cds_end": null,
"cds_length": 987,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_020650.3",
"gene_hgnc_id": 21145,
"gene_symbol": "RCN3",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.Asp168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000270645.8",
"protein_coding": true,
"protein_id": "NP_065701.2",
"strand": true,
"transcript": "NM_020650.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 328,
"aa_ref": "D",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1469,
"cdna_start": 566,
"cds_end": null,
"cds_length": 987,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000270645.8",
"gene_hgnc_id": 21145,
"gene_symbol": "RCN3",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.Asp168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020650.3",
"protein_coding": true,
"protein_id": "ENSP00000270645.2",
"strand": true,
"transcript": "ENST00000270645.8",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 149,
"aa_ref": "T",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 549,
"cdna_start": 508,
"cds_end": null,
"cds_length": 451,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000597801.1",
"gene_hgnc_id": 21145,
"gene_symbol": "RCN3",
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Thr137Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469727.1",
"strand": true,
"transcript": "ENST00000597801.1",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1600,
"cdna_start": 586,
"cds_end": null,
"cds_length": 1098,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000892641.1",
"gene_hgnc_id": 21145,
"gene_symbol": "RCN3",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.Asp168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562700.1",
"strand": true,
"transcript": "ENST00000892641.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3457,
"cdna_start": 2443,
"cds_end": null,
"cds_length": 1098,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000956869.1",
"gene_hgnc_id": 21145,
"gene_symbol": "RCN3",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.Asp168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626928.1",
"strand": true,
"transcript": "ENST00000956869.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2454,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 1098,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000956870.1",
"gene_hgnc_id": 21145,
"gene_symbol": "RCN3",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.Asp168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626929.1",
"strand": true,
"transcript": "ENST00000956870.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 338,
"aa_ref": "D",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1488,
"cdna_start": 585,
"cds_end": null,
"cds_length": 1017,
"cds_start": 534,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933699.1",
"gene_hgnc_id": 21145,
"gene_symbol": "RCN3",
"hgvs_c": "c.534C>T",
"hgvs_p": "p.Asp178Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603758.1",
"strand": true,
"transcript": "ENST00000933699.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 328,
"aa_ref": "D",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1589,
"cdna_start": 687,
"cds_end": null,
"cds_length": 987,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000892643.1",
"gene_hgnc_id": 21145,
"gene_symbol": "RCN3",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.Asp168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562702.1",
"strand": true,
"transcript": "ENST00000892643.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 328,
"aa_ref": "D",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2645,
"cdna_start": 1741,
"cds_end": null,
"cds_length": 987,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000933698.1",
"gene_hgnc_id": 21145,
"gene_symbol": "RCN3",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.Asp168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603757.1",
"strand": true,
"transcript": "ENST00000933698.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 328,
"aa_ref": "D",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1552,
"cdna_start": 650,
"cds_end": null,
"cds_length": 987,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000956872.1",
"gene_hgnc_id": 21145,
"gene_symbol": "RCN3",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.Asp168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626931.1",
"strand": true,
"transcript": "ENST00000956872.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 308,
"aa_ref": "D",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": 572,
"cds_end": null,
"cds_length": 927,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000892642.1",
"gene_hgnc_id": 21145,
"gene_symbol": "RCN3",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.Asp168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562701.1",
"strand": true,
"transcript": "ENST00000892642.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 308,
"aa_ref": "D",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2110,
"cdna_start": 1269,
"cds_end": null,
"cds_length": 927,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000956871.1",
"gene_hgnc_id": 21145,
"gene_symbol": "RCN3",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.Asp168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626930.1",
"strand": true,
"transcript": "ENST00000956871.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 169,
"aa_ref": "D",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 607,
"cdna_start": 351,
"cds_end": null,
"cds_length": 510,
"cds_start": 351,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000598833.1",
"gene_hgnc_id": 21145,
"gene_symbol": "RCN3",
"hgvs_c": "c.351C>T",
"hgvs_p": "p.Asp117Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470540.1",
"strand": true,
"transcript": "ENST00000598833.1",
"transcript_support_level": 3
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1580,
"cdna_start": 566,
"cds_end": null,
"cds_length": 1098,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_024451620.2",
"gene_hgnc_id": 21145,
"gene_symbol": "RCN3",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.Asp168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307388.1",
"strand": true,
"transcript": "XM_024451620.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1730,
"cdna_start": 716,
"cds_end": null,
"cds_length": 1098,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047439115.1",
"gene_hgnc_id": 21145,
"gene_symbol": "RCN3",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.Asp168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295071.1",
"strand": true,
"transcript": "XM_047439115.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 365,
"aa_ref": "D",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": 889,
"cds_end": null,
"cds_length": 1098,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047439116.1",
"gene_hgnc_id": 21145,
"gene_symbol": "RCN3",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.Asp168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295072.1",
"strand": true,
"transcript": "XM_047439116.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 328,
"aa_ref": "D",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1619,
"cdna_start": 716,
"cds_end": null,
"cds_length": 987,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047439117.1",
"gene_hgnc_id": 21145,
"gene_symbol": "RCN3",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.Asp168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295073.1",
"strand": true,
"transcript": "XM_047439117.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 328,
"aa_ref": "D",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1792,
"cdna_start": 889,
"cds_end": null,
"cds_length": 987,
"cds_start": 504,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047439118.1",
"gene_hgnc_id": 21145,
"gene_symbol": "RCN3",
"hgvs_c": "c.504C>T",
"hgvs_p": "p.Asp168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295074.1",
"strand": true,
"transcript": "XM_047439118.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 223,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000593644.1",
"gene_hgnc_id": 21145,
"gene_symbol": "RCN3",
"hgvs_c": "n.*7C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000593644.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs141528253",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0042018387,
"gene_hgnc_id": 21145,
"gene_symbol": "RCN3",
"gnomad_exomes_ac": 6178,
"gnomad_exomes_af": 0.00428076,
"gnomad_exomes_homalt": 27,
"gnomad_genomes_ac": 526,
"gnomad_genomes_af": 0.00345389,
"gnomad_genomes_homalt": 2,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 29,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -2.384,
"pos": 49537091,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_020650.3"
}
]
}