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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: 1-111236119-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=111236119&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CHI3L2",
"hgnc_id": 1933,
"hgvs_c": "c.701G>T",
"hgvs_p": "p.Trp234Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_004000.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1579,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04646745324134827,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 390,
"aa_ref": "W",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1416,
"cdna_start": 718,
"cds_end": null,
"cds_length": 1173,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_004000.3",
"gene_hgnc_id": 1933,
"gene_symbol": "CHI3L2",
"hgvs_c": "c.701G>T",
"hgvs_p": "p.Trp234Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369748.9",
"protein_coding": true,
"protein_id": "NP_003991.2",
"strand": true,
"transcript": "NM_004000.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 390,
"aa_ref": "W",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1416,
"cdna_start": 718,
"cds_end": null,
"cds_length": 1173,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000369748.9",
"gene_hgnc_id": 1933,
"gene_symbol": "CHI3L2",
"hgvs_c": "c.701G>T",
"hgvs_p": "p.Trp234Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004000.3",
"protein_coding": true,
"protein_id": "ENSP00000358763.4",
"strand": true,
"transcript": "ENST00000369748.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 311,
"aa_ref": "W",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1518,
"cdna_start": 821,
"cds_end": null,
"cds_length": 936,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000466741.5",
"gene_hgnc_id": 1933,
"gene_symbol": "CHI3L2",
"hgvs_c": "c.464G>T",
"hgvs_p": "p.Trp155Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437086.1",
"strand": true,
"transcript": "ENST00000466741.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 390,
"aa_ref": "W",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2169,
"cdna_start": 1472,
"cds_end": null,
"cds_length": 1173,
"cds_start": 701,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000445067.6",
"gene_hgnc_id": 1933,
"gene_symbol": "CHI3L2",
"hgvs_c": "c.701G>T",
"hgvs_p": "p.Trp234Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437082.1",
"strand": true,
"transcript": "ENST00000445067.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 389,
"aa_ref": "W",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1487,
"cdna_start": 793,
"cds_end": null,
"cds_length": 1170,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000949913.1",
"gene_hgnc_id": 1933,
"gene_symbol": "CHI3L2",
"hgvs_c": "c.698G>T",
"hgvs_p": "p.Trp233Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619972.1",
"strand": true,
"transcript": "ENST00000949913.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 380,
"aa_ref": "W",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1440,
"cdna_start": 742,
"cds_end": null,
"cds_length": 1143,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001025197.1",
"gene_hgnc_id": 1933,
"gene_symbol": "CHI3L2",
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Trp224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001020368.1",
"strand": true,
"transcript": "NM_001025197.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 380,
"aa_ref": "W",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1489,
"cdna_start": 791,
"cds_end": null,
"cds_length": 1143,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000369744.6",
"gene_hgnc_id": 1933,
"gene_symbol": "CHI3L2",
"hgvs_c": "c.671G>T",
"hgvs_p": "p.Trp224Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358759.2",
"strand": true,
"transcript": "ENST00000369744.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 371,
"aa_ref": "W",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1357,
"cdna_start": 663,
"cds_end": null,
"cds_length": 1116,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000907889.1",
"gene_hgnc_id": 1933,
"gene_symbol": "CHI3L2",
"hgvs_c": "c.644G>T",
"hgvs_p": "p.Trp215Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577948.1",
"strand": true,
"transcript": "ENST00000907889.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 367,
"aa_ref": "W",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1346,
"cdna_start": 651,
"cds_end": null,
"cds_length": 1104,
"cds_start": 632,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000949914.1",
"gene_hgnc_id": 1933,
"gene_symbol": "CHI3L2",
"hgvs_c": "c.632G>T",
"hgvs_p": "p.Trp211Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619973.1",
"strand": true,
"transcript": "ENST00000949914.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 311,
"aa_ref": "W",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1475,
"cdna_start": 777,
"cds_end": null,
"cds_length": 936,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001025199.2",
"gene_hgnc_id": 1933,
"gene_symbol": "CHI3L2",
"hgvs_c": "c.464G>T",
"hgvs_p": "p.Trp155Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001020370.1",
"strand": true,
"transcript": "NM_001025199.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 311,
"aa_ref": "W",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1435,
"cdna_start": 693,
"cds_end": null,
"cds_length": 936,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000524472.5",
"gene_hgnc_id": 1933,
"gene_symbol": "CHI3L2",
"hgvs_c": "c.464G>T",
"hgvs_p": "p.Trp155Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432049.1",
"strand": true,
"transcript": "ENST00000524472.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 183,
"aa_ref": "W",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 778,
"cdna_start": 263,
"cds_end": null,
"cds_length": 552,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000497220.5",
"gene_hgnc_id": 1933,
"gene_symbol": "CHI3L2",
"hgvs_c": "c.263G>T",
"hgvs_p": "p.Trp88Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435250.1",
"strand": true,
"transcript": "ENST00000497220.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 168,
"aa_ref": "W",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 757,
"cdna_start": 713,
"cds_end": null,
"cds_length": 508,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000477185.6",
"gene_hgnc_id": 1933,
"gene_symbol": "CHI3L2",
"hgvs_c": "c.464G>T",
"hgvs_p": "p.Trp155Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436272.1",
"strand": true,
"transcript": "ENST00000477185.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 159,
"aa_ref": "W",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 482,
"cdna_start": 331,
"cds_end": null,
"cds_length": 480,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000533831.6",
"gene_hgnc_id": 1933,
"gene_symbol": "CHI3L2",
"hgvs_c": "c.329G>T",
"hgvs_p": "p.Trp110Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433176.2",
"strand": true,
"transcript": "ENST00000533831.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 144,
"aa_ref": "W",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 732,
"cdna_start": 703,
"cds_end": null,
"cds_length": 436,
"cds_start": 407,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000467038.6",
"gene_hgnc_id": 1933,
"gene_symbol": "CHI3L2",
"hgvs_c": "c.407G>T",
"hgvs_p": "p.Trp136Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431978.1",
"strand": true,
"transcript": "ENST00000467038.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 219,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 946,
"cdna_start": null,
"cds_end": null,
"cds_length": 662,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000528451.5",
"gene_hgnc_id": 1933,
"gene_symbol": "CHI3L2",
"hgvs_c": "c.*39G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436077.1",
"strand": true,
"transcript": "ENST00000528451.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 1933,
"gene_symbol": "CHI3L2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.253,
"pos": 111236119,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.044,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004000.3"
}
]
}