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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: 19-53809808-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=53809808&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 53809808,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000324134.11",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Leu617Phe",
"transcript": "NM_144687.4",
"protein_id": "NP_653288.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 1061,
"cds_start": 1851,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 1991,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": "ENST00000324134.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Leu617Phe",
"transcript": "ENST00000324134.11",
"protein_id": "ENSP00000319377.6",
"transcript_support_level": 1,
"aa_start": 617,
"aa_end": null,
"aa_length": 1061,
"cds_start": 1851,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 1991,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": "NM_144687.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Leu617Phe",
"transcript": "ENST00000391773.8",
"protein_id": "ENSP00000375653.1",
"transcript_support_level": 1,
"aa_start": 617,
"aa_end": null,
"aa_length": 1062,
"cds_start": 1851,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 5328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Leu617Phe",
"transcript": "ENST00000345770.9",
"protein_id": "ENSP00000341428.5",
"transcript_support_level": 1,
"aa_start": 617,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1851,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Leu617Phe",
"transcript": "ENST00000391772.1",
"protein_id": "ENSP00000375652.1",
"transcript_support_level": 1,
"aa_start": 617,
"aa_end": null,
"aa_length": 892,
"cds_start": 1851,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Leu617Phe",
"transcript": "NM_001277126.2",
"protein_id": "NP_001264055.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 1062,
"cds_start": 1851,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 1991,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Leu617Phe",
"transcript": "NM_001277129.1",
"protein_id": "NP_001264058.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 1004,
"cds_start": 1851,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 3709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Leu617Phe",
"transcript": "ENST00000391775.7",
"protein_id": "ENSP00000375655.3",
"transcript_support_level": 2,
"aa_start": 617,
"aa_end": null,
"aa_length": 1004,
"cds_start": 1851,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 3465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Leu617Phe",
"transcript": "XM_011527479.2",
"protein_id": "XP_011525781.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 1005,
"cds_start": 1851,
"cds_end": null,
"cds_length": 3018,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Leu617Phe",
"transcript": "XM_011527480.2",
"protein_id": "XP_011525782.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 1005,
"cds_start": 1851,
"cds_end": null,
"cds_length": 3018,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Leu617Phe",
"transcript": "XM_017027462.2",
"protein_id": "XP_016882951.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 1004,
"cds_start": 1851,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 3709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Leu617Phe",
"transcript": "XM_047439673.1",
"protein_id": "XP_047295629.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 1004,
"cds_start": 1851,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 3709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Leu617Phe",
"transcript": "XM_047439674.1",
"protein_id": "XP_047295630.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 970,
"cds_start": 1851,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Leu617Phe",
"transcript": "XM_011527482.2",
"protein_id": "XP_011525784.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 948,
"cds_start": 1851,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 3541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Leu617Phe",
"transcript": "XM_047439675.1",
"protein_id": "XP_047295631.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 947,
"cds_start": 1851,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Leu617Phe",
"transcript": "XM_047439676.1",
"protein_id": "XP_047295632.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 947,
"cds_start": 1851,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.1434G>T",
"hgvs_p": "p.Leu478Phe",
"transcript": "XM_017027463.2",
"protein_id": "XP_016882952.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 923,
"cds_start": 1434,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2289,
"cdna_end": null,
"cdna_length": 4092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.1434G>T",
"hgvs_p": "p.Leu478Phe",
"transcript": "XM_017027464.2",
"protein_id": "XP_016882953.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 923,
"cds_start": 1434,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.1434G>T",
"hgvs_p": "p.Leu478Phe",
"transcript": "XM_017027465.2",
"protein_id": "XP_016882954.1",
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"aa_end": null,
"aa_length": 923,
"cds_start": 1434,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1861,
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"cdna_length": 3664,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.1434G>T",
"hgvs_p": "p.Leu478Phe",
"transcript": "XM_017027467.2",
"protein_id": "XP_016882956.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 923,
"cds_start": 1434,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"dbsnp": "rs1179439001",
"frequency_reference_population": 0.0000013681332,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136813,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7426638603210449,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.587,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5144,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.11,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000324134.11",
"gene_symbol": "NLRP12",
"hgnc_id": 22938,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1851G>T",
"hgvs_p": "p.Leu617Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}