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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: 8-138596939-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=138596939&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 138596939,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_152888.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.4397G>C",
"hgvs_p": "p.Arg1466Pro",
"transcript": "NM_152888.3",
"protein_id": "NP_690848.1",
"transcript_support_level": null,
"aa_start": 1466,
"aa_end": null,
"aa_length": 1626,
"cds_start": 4397,
"cds_end": null,
"cds_length": 4881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000303045.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152888.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.4397G>C",
"hgvs_p": "p.Arg1466Pro",
"transcript": "ENST00000303045.11",
"protein_id": "ENSP00000303153.6",
"transcript_support_level": 1,
"aa_start": 1466,
"aa_end": null,
"aa_length": 1626,
"cds_start": 4397,
"cds_end": null,
"cds_length": 4881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152888.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303045.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "n.2082G>C",
"hgvs_p": null,
"transcript": "ENST00000341807.8",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000341807.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.4337G>C",
"hgvs_p": "p.Arg1446Pro",
"transcript": "ENST00000903590.1",
"protein_id": "ENSP00000573649.1",
"transcript_support_level": null,
"aa_start": 1446,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4337,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903590.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 62,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.4238G>C",
"hgvs_p": "p.Arg1413Pro",
"transcript": "ENST00000903591.1",
"protein_id": "ENSP00000573650.1",
"transcript_support_level": null,
"aa_start": 1413,
"aa_end": null,
"aa_length": 1573,
"cds_start": 4238,
"cds_end": null,
"cds_length": 4722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903591.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 61,
"exon_rank_end": null,
"exon_count": 64,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.4337G>C",
"hgvs_p": "p.Arg1446Pro",
"transcript": "XM_011516883.3",
"protein_id": "XP_011515185.1",
"transcript_support_level": null,
"aa_start": 1446,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4337,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516883.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.4298G>C",
"hgvs_p": "p.Arg1433Pro",
"transcript": "XM_011516884.3",
"protein_id": "XP_011515186.1",
"transcript_support_level": null,
"aa_start": 1433,
"aa_end": null,
"aa_length": 1593,
"cds_start": 4298,
"cds_end": null,
"cds_length": 4782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516884.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 60,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.4283G>C",
"hgvs_p": "p.Arg1428Pro",
"transcript": "XM_011516885.3",
"protein_id": "XP_011515187.1",
"transcript_support_level": null,
"aa_start": 1428,
"aa_end": null,
"aa_length": 1588,
"cds_start": 4283,
"cds_end": null,
"cds_length": 4767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516885.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.4250G>C",
"hgvs_p": "p.Arg1417Pro",
"transcript": "XM_011516886.4",
"protein_id": "XP_011515188.1",
"transcript_support_level": null,
"aa_start": 1417,
"aa_end": null,
"aa_length": 1577,
"cds_start": 4250,
"cds_end": null,
"cds_length": 4734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516886.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 62,
"exon_rank_end": null,
"exon_count": 65,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.4211G>C",
"hgvs_p": "p.Arg1404Pro",
"transcript": "XM_017013150.3",
"protein_id": "XP_016868639.1",
"transcript_support_level": null,
"aa_start": 1404,
"aa_end": null,
"aa_length": 1564,
"cds_start": 4211,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013150.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.4175G>C",
"hgvs_p": "p.Arg1392Pro",
"transcript": "XM_017013151.2",
"protein_id": "XP_016868640.1",
"transcript_support_level": null,
"aa_start": 1392,
"aa_end": null,
"aa_length": 1552,
"cds_start": 4175,
"cds_end": null,
"cds_length": 4659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013151.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 58,
"exon_rank_end": null,
"exon_count": 61,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.3311G>C",
"hgvs_p": "p.Arg1104Pro",
"transcript": "XM_011516887.2",
"protein_id": "XP_011515189.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3311,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516887.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.3311G>C",
"hgvs_p": "p.Arg1104Pro",
"transcript": "XM_017013152.2",
"protein_id": "XP_016868641.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1264,
"cds_start": 3311,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013152.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"hgvs_c": "c.2693G>C",
"hgvs_p": "p.Arg898Pro",
"transcript": "XM_011516889.3",
"protein_id": "XP_011515191.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2693,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516889.3"
}
],
"gene_symbol": "COL22A1",
"gene_hgnc_id": 22989,
"dbsnp": "rs776233435",
"frequency_reference_population": 6.840947e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84095e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6950876712799072,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.564,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7379,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.661,
"phylop100way_prediction": "Uncertain_significance",
"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": "NM_152888.3",
"gene_symbol": "COL22A1",
"hgnc_id": 22989,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4397G>C",
"hgvs_p": "p.Arg1466Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}