← 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: 19-53804068-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=53804068&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 53804068,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000324134.11",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.2469C>A",
"hgvs_p": "p.Leu823Leu",
"transcript": "NM_144687.4",
"protein_id": "NP_653288.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2469,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 2609,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": "ENST00000324134.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.2469C>A",
"hgvs_p": "p.Leu823Leu",
"transcript": "ENST00000324134.11",
"protein_id": "ENSP00000319377.6",
"transcript_support_level": 1,
"aa_start": 823,
"aa_end": null,
"aa_length": 1061,
"cds_start": 2469,
"cds_end": null,
"cds_length": 3186,
"cdna_start": 2609,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": "NM_144687.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.2472C>A",
"hgvs_p": "p.Leu824Leu",
"transcript": "ENST00000391773.8",
"protein_id": "ENSP00000375653.1",
"transcript_support_level": 1,
"aa_start": 824,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2472,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 2701,
"cdna_end": null,
"cdna_length": 5328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.2472C>A",
"hgvs_p": "p.Leu824Leu",
"transcript": "ENST00000345770.9",
"protein_id": "ENSP00000341428.5",
"transcript_support_level": 1,
"aa_start": 824,
"aa_end": null,
"aa_length": 1006,
"cds_start": 2472,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 2692,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.2472C>A",
"hgvs_p": "p.Leu824Leu",
"transcript": "ENST00000391772.1",
"protein_id": "ENSP00000375652.1",
"transcript_support_level": 1,
"aa_start": 824,
"aa_end": null,
"aa_length": 892,
"cds_start": 2472,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 2692,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "n.1627C>A",
"hgvs_p": null,
"transcript": "ENST00000492915.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.2472C>A",
"hgvs_p": "p.Leu824Leu",
"transcript": "NM_001277126.2",
"protein_id": "NP_001264055.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2472,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 2612,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.2469C>A",
"hgvs_p": "p.Leu823Leu",
"transcript": "NM_001277129.1",
"protein_id": "NP_001264058.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2469,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 2698,
"cdna_end": null,
"cdna_length": 3709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.2469C>A",
"hgvs_p": "p.Leu823Leu",
"transcript": "ENST00000391775.7",
"protein_id": "ENSP00000375655.3",
"transcript_support_level": 2,
"aa_start": 823,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2469,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 2612,
"cdna_end": null,
"cdna_length": 3465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.2472C>A",
"hgvs_p": "p.Leu824Leu",
"transcript": "XM_011527480.2",
"protein_id": "XP_011525782.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2472,
"cds_end": null,
"cds_length": 3018,
"cdna_start": 2701,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.2298C>A",
"hgvs_p": "p.Leu766Leu",
"transcript": "XM_017027462.2",
"protein_id": "XP_016882951.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2298,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 2527,
"cdna_end": null,
"cdna_length": 3709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.2472C>A",
"hgvs_p": "p.Leu824Leu",
"transcript": "XM_047439674.1",
"protein_id": "XP_047295630.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 970,
"cds_start": 2472,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 2701,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.2472C>A",
"hgvs_p": "p.Leu824Leu",
"transcript": "XM_011527482.2",
"protein_id": "XP_011525784.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 948,
"cds_start": 2472,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 2701,
"cdna_end": null,
"cdna_length": 3541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.2469C>A",
"hgvs_p": "p.Leu823Leu",
"transcript": "XM_047439675.1",
"protein_id": "XP_047295631.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 947,
"cds_start": 2469,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2698,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.2055C>A",
"hgvs_p": "p.Leu685Leu",
"transcript": "XM_017027463.2",
"protein_id": "XP_016882952.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 923,
"cds_start": 2055,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2910,
"cdna_end": null,
"cdna_length": 4092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.2055C>A",
"hgvs_p": "p.Leu685Leu",
"transcript": "XM_017027464.2",
"protein_id": "XP_016882953.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 923,
"cds_start": 2055,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2272,
"cdna_end": null,
"cdna_length": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.2055C>A",
"hgvs_p": "p.Leu685Leu",
"transcript": "XM_017027465.2",
"protein_id": "XP_016882954.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 923,
"cds_start": 2055,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2482,
"cdna_end": null,
"cdna_length": 3664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.2055C>A",
"hgvs_p": "p.Leu685Leu",
"transcript": "XM_017027467.2",
"protein_id": "XP_016882956.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 923,
"cds_start": 2055,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2280,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.2417+1212C>A",
"hgvs_p": null,
"transcript": "XM_011527479.2",
"protein_id": "XP_011525781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1005,
"cds_start": -4,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.2414+1212C>A",
"hgvs_p": null,
"transcript": "XM_047439673.1",
"protein_id": "XP_047295629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1004,
"cds_start": -4,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"hgvs_c": "c.2414+1212C>A",
"hgvs_p": null,
"transcript": "XM_047439676.1",
"protein_id": "XP_047295632.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 947,
"cds_start": -4,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NLRP12",
"gene_hgnc_id": 22938,
"dbsnp": "rs12460528",
"frequency_reference_population": 0.0826592,
"hom_count_reference_population": 6215,
"allele_count_reference_population": 133385,
"gnomad_exomes_af": 0.0848975,
"gnomad_genomes_af": 0.0611305,
"gnomad_exomes_ac": 124095,
"gnomad_genomes_ac": 9290,
"gnomad_exomes_homalt": 5816,
"gnomad_genomes_homalt": 399,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.006,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000324134.11",
"gene_symbol": "NLRP12",
"hgnc_id": 22938,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2469C>A",
"hgvs_p": "p.Leu823Leu"
}
],
"clinvar_disease": "Autoinflammatory syndrome,Familial cold autoinflammatory syndrome,Familial cold autoinflammatory syndrome 2,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8 O:1",
"phenotype_combined": "not specified|Familial cold autoinflammatory syndrome|not provided|Familial cold autoinflammatory syndrome 2|Autoinflammatory syndrome",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}