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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: 1-113905723-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=113905723&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 113905723,
"ref": "G",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001319946.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "NM_022836.4",
"protein_id": "NP_073747.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 532,
"cds_start": 137,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 3755,
"mane_select": "ENST00000650450.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022836.4"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000650450.2",
"protein_id": "ENSP00000498042.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 532,
"cds_start": 137,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 3755,
"mane_select": "NM_022836.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650450.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "n.137G>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3199,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000466480.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.-76G>T",
"hgvs_p": null,
"transcript": "NM_001319946.2",
"protein_id": "NP_001306875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": null,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319946.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.-76G>T",
"hgvs_p": null,
"transcript": "NM_001319947.2",
"protein_id": "NP_001306876.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": null,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319947.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.-76G>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": null,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363691.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000970516.1",
"protein_id": "ENSP00000640575.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 532,
"cds_start": 137,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 3915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970516.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000935642.1",
"protein_id": "ENSP00000605701.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 529,
"cds_start": 137,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 3757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935642.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000935643.1",
"protein_id": "ENSP00000605702.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 506,
"cds_start": 137,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 189,
"cdna_end": null,
"cdna_length": 1848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935643.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "ENST00000650596.1",
"protein_id": "ENSP00000497882.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 471,
"cds_start": 137,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650596.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.137G>T",
"hgvs_p": "p.Arg46Leu",
"transcript": "NM_001363690.2",
"protein_id": "NP_001350619.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 423,
"cds_start": 137,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363690.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.-76G>T",
"hgvs_p": null,
"transcript": "NM_001319946.2",
"protein_id": "NP_001306875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": null,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319946.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.-76G>T",
"hgvs_p": null,
"transcript": "NM_001319947.2",
"protein_id": "NP_001306876.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": null,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319947.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.-76G>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": null,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363691.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "n.137G>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000648795.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "n.345G>T",
"hgvs_p": null,
"transcript": "ENST00000697125.1",
"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": 569,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000697125.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.-217C>A",
"hgvs_p": null,
"transcript": "ENST00000713590.1",
"protein_id": "ENSP00000518886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": null,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713590.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.-573C>A",
"hgvs_p": null,
"transcript": "ENST00000935535.1",
"protein_id": "ENSP00000605594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": null,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935535.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.-217C>A",
"hgvs_p": null,
"transcript": "ENST00000935534.1",
"protein_id": "ENSP00000605593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 571,
"cds_start": null,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935534.1"
}
],
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"dbsnp": "rs28381069",
"frequency_reference_population": 0.00008735356,
"hom_count_reference_population": 0,
"allele_count_reference_population": 141,
"gnomad_exomes_af": 0.0000478847,
"gnomad_genomes_af": 0.000466234,
"gnomad_exomes_ac": 70,
"gnomad_genomes_ac": 71,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.021834194660186768,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.388,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.269,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.49,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001319946.2",
"gene_symbol": "DCLRE1B",
"hgnc_id": 17641,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.-76G>T",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000713590.1",
"gene_symbol": "AP4B1",
"hgnc_id": 572,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-217C>A",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive dyskeratosis congenita,Hoyeraal-Hreidarsson syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Autosomal recessive dyskeratosis congenita;Hoyeraal-Hreidarsson syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}