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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: 22-37182193-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=37182193&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 37182193,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_031910.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF6",
"gene_hgnc_id": 14343,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Asp278Asn",
"transcript": "NM_031910.4",
"protein_id": "NP_114116.3",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 278,
"cds_start": 832,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337843.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031910.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF6",
"gene_hgnc_id": 14343,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Asp278Asn",
"transcript": "ENST00000337843.7",
"protein_id": "ENSP00000338812.2",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 278,
"cds_start": 832,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031910.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337843.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF6",
"gene_hgnc_id": 14343,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Asp278Asn",
"transcript": "ENST00000397110.6",
"protein_id": "ENSP00000380299.2",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 278,
"cds_start": 832,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397110.6"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF6",
"gene_hgnc_id": 14343,
"hgvs_c": "n.1274G>A",
"hgvs_p": null,
"transcript": "ENST00000493023.1",
"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": "retained_intron",
"feature": "ENST00000493023.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF6",
"gene_hgnc_id": 14343,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Asp278Asn",
"transcript": "NM_182486.2",
"protein_id": "NP_872292.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 278,
"cds_start": 832,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182486.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF6",
"gene_hgnc_id": 14343,
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Asp259Asn",
"transcript": "NM_001365878.1",
"protein_id": "NP_001352807.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 259,
"cds_start": 775,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365878.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF6",
"gene_hgnc_id": 14343,
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Asp227Asn",
"transcript": "ENST00000880425.1",
"protein_id": "ENSP00000550484.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 227,
"cds_start": 679,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880425.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF6",
"gene_hgnc_id": 14343,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Asp278Asn",
"transcript": "XM_017028569.2",
"protein_id": "XP_016884058.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 278,
"cds_start": 832,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028569.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF6",
"gene_hgnc_id": 14343,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Asp278Asn",
"transcript": "XM_024452150.2",
"protein_id": "XP_024307918.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 278,
"cds_start": 832,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452150.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF6",
"gene_hgnc_id": 14343,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Asp278Asn",
"transcript": "XM_024452153.2",
"protein_id": "XP_024307921.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 278,
"cds_start": 832,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452153.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF6",
"gene_hgnc_id": 14343,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Asp278Asn",
"transcript": "XM_047441111.1",
"protein_id": "XP_047297067.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 278,
"cds_start": 832,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441111.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF6",
"gene_hgnc_id": 14343,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Asp278Asn",
"transcript": "XM_047441112.1",
"protein_id": "XP_047297068.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 278,
"cds_start": 832,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441112.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF6",
"gene_hgnc_id": 14343,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Asp278Asn",
"transcript": "XM_047441113.1",
"protein_id": "XP_047297069.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 278,
"cds_start": 832,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441113.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF6",
"gene_hgnc_id": 14343,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Asp278Asn",
"transcript": "XM_047441114.1",
"protein_id": "XP_047297070.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 278,
"cds_start": 832,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441114.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF6",
"gene_hgnc_id": 14343,
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Asp259Asn",
"transcript": "XM_011529857.3",
"protein_id": "XP_011528159.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 259,
"cds_start": 775,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529857.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF6",
"gene_hgnc_id": 14343,
"hgvs_c": "c.*582G>A",
"hgvs_p": null,
"transcript": "ENST00000434784.1",
"protein_id": "ENSP00000399243.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434784.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1QTNF6",
"gene_hgnc_id": 14343,
"hgvs_c": "n.4261G>A",
"hgvs_p": null,
"transcript": "ENST00000470655.5",
"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": "pseudogene",
"feature": "ENST00000470655.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL2RB-AS1",
"gene_hgnc_id": 40300,
"hgvs_c": "n.223-236C>T",
"hgvs_p": null,
"transcript": "ENST00000419128.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000419128.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL2RB-AS1",
"gene_hgnc_id": 40300,
"hgvs_c": "n.207-236C>T",
"hgvs_p": null,
"transcript": "NR_199008.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_199008.1"
}
],
"gene_symbol": "C1QTNF6",
"gene_hgnc_id": 14343,
"dbsnp": "rs140234868",
"frequency_reference_population": 0.00001741521,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000164885,
"gnomad_genomes_af": 0.000026276,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11240264773368835,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.05,
"revel_prediction": "Benign",
"alphamissense_score": 0.0855,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.739,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_031910.4",
"gene_symbol": "C1QTNF6",
"hgnc_id": 14343,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Asp278Asn"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_199008.1",
"gene_symbol": "IL2RB-AS1",
"hgnc_id": 40300,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.207-236C>T",
"hgvs_p": null
}
],
"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
}