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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: 1-113912120-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=113912120&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 113912120,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000650450.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.1528A>T",
"hgvs_p": "p.Asn510Tyr",
"transcript": "NM_022836.4",
"protein_id": "NP_073747.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 532,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 3755,
"mane_select": "ENST00000650450.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.1528A>T",
"hgvs_p": "p.Asn510Tyr",
"transcript": "ENST00000650450.2",
"protein_id": "ENSP00000498042.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 532,
"cds_start": 1528,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 3755,
"mane_select": "NM_022836.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "n.*862-12A>T",
"hgvs_p": null,
"transcript": "ENST00000466480.2",
"protein_id": "ENSP00000497696.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.1345A>T",
"hgvs_p": "p.Asn449Tyr",
"transcript": "ENST00000650596.1",
"protein_id": "ENSP00000497882.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 471,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.1150A>T",
"hgvs_p": "p.Asn384Tyr",
"transcript": "NM_001319946.2",
"protein_id": "NP_001306875.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 406,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.1150A>T",
"hgvs_p": "p.Asn384Tyr",
"transcript": "NM_001319947.2",
"protein_id": "NP_001306876.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 406,
"cds_start": 1150,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1570,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "n.*1143A>T",
"hgvs_p": null,
"transcript": "ENST00000648795.1",
"protein_id": "ENSP00000497557.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "n.1936A>T",
"hgvs_p": null,
"transcript": "ENST00000697126.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK1-AS1",
"gene_hgnc_id": 50576,
"hgvs_c": "n.274T>A",
"hgvs_p": null,
"transcript": "ENST00000722334.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "n.*1143A>T",
"hgvs_p": null,
"transcript": "ENST00000648795.1",
"protein_id": "ENSP00000497557.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.1247-12A>T",
"hgvs_p": null,
"transcript": "NM_001363690.2",
"protein_id": "NP_001350619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": -4,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.869-12A>T",
"hgvs_p": null,
"transcript": "NM_001363691.2",
"protein_id": "NP_001350620.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 297,
"cds_start": -4,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"dbsnp": "rs35397235",
"frequency_reference_population": 0.0013461827,
"hom_count_reference_population": 14,
"allele_count_reference_population": 2173,
"gnomad_exomes_af": 0.00135237,
"gnomad_genomes_af": 0.00128682,
"gnomad_exomes_ac": 1977,
"gnomad_genomes_ac": 196,
"gnomad_exomes_homalt": 14,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004437565803527832,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.103,
"revel_prediction": "Benign",
"alphamissense_score": 0.1049,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.966,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000650450.2",
"gene_symbol": "DCLRE1B",
"hgnc_id": 17641,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.1528A>T",
"hgvs_p": "p.Asn510Tyr"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000722334.1",
"gene_symbol": "HIPK1-AS1",
"hgnc_id": 50576,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.274T>A",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive dyskeratosis congenita,DCLRE1B-related disorder,Hoyeraal-Hreidarsson syndrome,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Autosomal recessive dyskeratosis congenita;Hoyeraal-Hreidarsson syndrome|not provided|DCLRE1B-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}