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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: 16-74412787-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=74412787&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CLEC18B",
"hgnc_id": 33849,
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Gly257Asp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001011880.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": null,
"alphamissense_prediction": null,
"alphamissense_score": 0.875,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.28,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5554683208465576,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 446,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1924,
"cdna_start": 978,
"cds_end": null,
"cds_length": 1341,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001385193.1",
"gene_hgnc_id": 33849,
"gene_symbol": "CLEC18B",
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Gly257Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000682950.1",
"protein_coding": true,
"protein_id": "NP_001372122.1",
"strand": false,
"transcript": "NM_001385193.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 446,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1924,
"cdna_start": 978,
"cds_end": null,
"cds_length": 1341,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000682950.1",
"gene_hgnc_id": 33849,
"gene_symbol": "CLEC18B",
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Gly257Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001385193.1",
"protein_coding": true,
"protein_id": "ENSP00000507367.1",
"strand": false,
"transcript": "ENST00000682950.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 455,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": 892,
"cds_end": null,
"cds_length": 1368,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000339953.9",
"gene_hgnc_id": 33849,
"gene_symbol": "CLEC18B",
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Gly257Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341051.5",
"strand": false,
"transcript": "ENST00000339953.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 455,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1951,
"cdna_start": 978,
"cds_end": null,
"cds_length": 1368,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001011880.3",
"gene_hgnc_id": 33849,
"gene_symbol": "CLEC18B",
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Gly257Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001011880.2",
"strand": false,
"transcript": "NM_001011880.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 446,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 1341,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001385192.1",
"gene_hgnc_id": 33849,
"gene_symbol": "CLEC18B",
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Gly257Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372121.1",
"strand": false,
"transcript": "NM_001385192.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 446,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1873,
"cdna_start": 927,
"cds_end": null,
"cds_length": 1341,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000890001.1",
"gene_hgnc_id": 33849,
"gene_symbol": "CLEC18B",
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Gly257Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560060.1",
"strand": false,
"transcript": "ENST00000890001.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 446,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1883,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1341,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000890002.1",
"gene_hgnc_id": 33849,
"gene_symbol": "CLEC18B",
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Gly257Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560061.1",
"strand": false,
"transcript": "ENST00000890002.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 366,
"aa_ref": "G",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1723,
"cdna_start": 777,
"cds_end": null,
"cds_length": 1101,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001385194.1",
"gene_hgnc_id": 33849,
"gene_symbol": "CLEC18B",
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Gly177Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372123.1",
"strand": false,
"transcript": "NM_001385194.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 366,
"aa_ref": "G",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1684,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1101,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385195.1",
"gene_hgnc_id": 33849,
"gene_symbol": "CLEC18B",
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Gly177Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372124.1",
"strand": false,
"transcript": "NM_001385195.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 366,
"aa_ref": "G",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1567,
"cdna_start": 621,
"cds_end": null,
"cds_length": 1101,
"cds_start": 530,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000890003.1",
"gene_hgnc_id": 33849,
"gene_symbol": "CLEC18B",
"hgvs_c": "c.530G>A",
"hgvs_p": "p.Gly177Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560062.1",
"strand": false,
"transcript": "ENST00000890003.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 446,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2042,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1341,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047434172.1",
"gene_hgnc_id": 33849,
"gene_symbol": "CLEC18B",
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Gly257Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290128.1",
"strand": false,
"transcript": "XM_047434172.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 446,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1943,
"cdna_start": 997,
"cds_end": null,
"cds_length": 1341,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047434173.1",
"gene_hgnc_id": 33849,
"gene_symbol": "CLEC18B",
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Gly257Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290129.1",
"strand": false,
"transcript": "XM_047434173.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 446,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1922,
"cdna_start": 976,
"cds_end": null,
"cds_length": 1341,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047434174.1",
"gene_hgnc_id": 33849,
"gene_symbol": "CLEC18B",
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Gly257Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290130.1",
"strand": false,
"transcript": "XM_047434174.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 446,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1960,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1341,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047434175.1",
"gene_hgnc_id": 33849,
"gene_symbol": "CLEC18B",
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Gly257Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290131.1",
"strand": false,
"transcript": "XM_047434175.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 446,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1841,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1341,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047434176.1",
"gene_hgnc_id": 33849,
"gene_symbol": "CLEC18B",
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Gly257Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290132.1",
"strand": false,
"transcript": "XM_047434176.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 391,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1484,
"cdna_start": 978,
"cds_end": null,
"cds_length": 1176,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047434177.1",
"gene_hgnc_id": 33849,
"gene_symbol": "CLEC18B",
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Gly257Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290133.1",
"strand": false,
"transcript": "XM_047434177.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 324,
"aa_ref": "G",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1308,
"cdna_start": 978,
"cds_end": null,
"cds_length": 975,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047434178.1",
"gene_hgnc_id": 33849,
"gene_symbol": "CLEC18B",
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Gly257Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290134.1",
"strand": false,
"transcript": "XM_047434178.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1188,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000425714.2",
"gene_hgnc_id": 33849,
"gene_symbol": "CLEC18B",
"hgvs_c": "n.730G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000425714.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 543,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000564842.1",
"gene_hgnc_id": 33849,
"gene_symbol": "CLEC18B",
"hgvs_c": "n.13G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000564842.1",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs759144388",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 33849,
"gene_symbol": "CLEC18B",
"gnomad_exomes_ac": 41,
"gnomad_exomes_af": 0.0000280897,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 7,
"gnomad_genomes_af": 0.0000459867,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": null,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.189,
"pos": 74412787,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.755,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001011880.3"
}
]
}