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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: 1-203181235-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=203181235&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 203181235,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001276.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Arg213His",
"transcript": "NM_001276.4",
"protein_id": "NP_001267.2",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 383,
"cds_start": 638,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000255409.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Arg213His",
"transcript": "ENST00000255409.8",
"protein_id": "ENSP00000255409.3",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 383,
"cds_start": 638,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001276.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000255409.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "c.848G>A",
"hgvs_p": "p.Arg283His",
"transcript": "ENST00000874779.1",
"protein_id": "ENSP00000544838.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 453,
"cds_start": 848,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874779.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219His",
"transcript": "ENST00000874774.1",
"protein_id": "ENSP00000544833.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 389,
"cds_start": 656,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874774.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Arg213His",
"transcript": "ENST00000874780.1",
"protein_id": "ENSP00000544839.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 381,
"cds_start": 638,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874780.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "c.629G>A",
"hgvs_p": "p.Arg210His",
"transcript": "ENST00000874777.1",
"protein_id": "ENSP00000544835.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 380,
"cds_start": 629,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874777.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "c.608G>A",
"hgvs_p": "p.Arg203His",
"transcript": "ENST00000874781.1",
"protein_id": "ENSP00000544840.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 373,
"cds_start": 608,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874781.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Arg213His",
"transcript": "ENST00000946568.1",
"protein_id": "ENSP00000616627.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 366,
"cds_start": 638,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946568.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194His",
"transcript": "ENST00000874776.1",
"protein_id": "ENSP00000544834.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 364,
"cds_start": 581,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874776.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Arg213His",
"transcript": "ENST00000946569.1",
"protein_id": "ENSP00000616628.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 360,
"cds_start": 638,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946569.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Arg213His",
"transcript": "ENST00000874778.1",
"protein_id": "ENSP00000544836.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 344,
"cds_start": 638,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874778.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Arg213His",
"transcript": "ENST00000946570.1",
"protein_id": "ENSP00000616629.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 283,
"cds_start": 638,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946570.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Arg42His",
"transcript": "ENST00000404436.2",
"protein_id": "ENSP00000385350.2",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 151,
"cds_start": 125,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404436.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219His",
"transcript": "XM_047442840.1",
"protein_id": "XP_047298796.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 389,
"cds_start": 656,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442840.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219His",
"transcript": "XM_047442841.1",
"protein_id": "XP_047298797.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 360,
"cds_start": 656,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442841.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Arg213His",
"transcript": "XM_047442846.1",
"protein_id": "XP_047298802.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 354,
"cds_start": 638,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442846.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219His",
"transcript": "XM_047442847.1",
"protein_id": "XP_047298803.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 328,
"cds_start": 656,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442847.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Arg213His",
"transcript": "XM_047442848.1",
"protein_id": "XP_047298804.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 322,
"cds_start": 638,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442848.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "c.*862G>A",
"hgvs_p": null,
"transcript": "XM_047442873.1",
"protein_id": "XP_047298829.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442873.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "n.162G>A",
"hgvs_p": null,
"transcript": "ENST00000472064.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000472064.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"hgvs_c": "n.900G>A",
"hgvs_p": null,
"transcript": "ENST00000473185.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000473185.1"
}
],
"gene_symbol": "CHI3L1",
"gene_hgnc_id": 1932,
"dbsnp": "rs368942218",
"frequency_reference_population": 0.00011771791,
"hom_count_reference_population": 0,
"allele_count_reference_population": 190,
"gnomad_exomes_af": 0.000121773,
"gnomad_genomes_af": 0.000078796,
"gnomad_exomes_ac": 178,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07966911792755127,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.034,
"revel_prediction": "Benign",
"alphamissense_score": 0.0998,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.483,
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001276.4",
"gene_symbol": "CHI3L1",
"hgnc_id": 1932,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Arg213His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}