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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: 20-20037426-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=20037426&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 20037426,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016652.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "c.1793G>A",
"hgvs_p": "p.Arg598Gln",
"transcript": "NM_001278628.2",
"protein_id": "NP_001265557.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 687,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000536226.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278628.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "c.1793G>A",
"hgvs_p": "p.Arg598Gln",
"transcript": "ENST00000536226.2",
"protein_id": "ENSP00000440733.1",
"transcript_support_level": 1,
"aa_start": 598,
"aa_end": null,
"aa_length": 687,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001278628.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536226.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "c.2276G>A",
"hgvs_p": "p.Arg759Gln",
"transcript": "ENST00000377340.6",
"protein_id": "ENSP00000366557.2",
"transcript_support_level": 1,
"aa_start": 759,
"aa_end": null,
"aa_length": 848,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377340.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "c.2240G>A",
"hgvs_p": "p.Arg747Gln",
"transcript": "ENST00000377327.8",
"protein_id": "ENSP00000366544.4",
"transcript_support_level": 1,
"aa_start": 747,
"aa_end": null,
"aa_length": 836,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377327.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "n.*1738G>A",
"hgvs_p": null,
"transcript": "ENST00000490910.5",
"protein_id": "ENSP00000429226.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000490910.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "n.*1738G>A",
"hgvs_p": null,
"transcript": "ENST00000496549.5",
"protein_id": "ENSP00000428436.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000496549.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "n.*1738G>A",
"hgvs_p": null,
"transcript": "ENST00000490910.5",
"protein_id": "ENSP00000429226.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000490910.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "n.*1738G>A",
"hgvs_p": null,
"transcript": "ENST00000496549.5",
"protein_id": "ENSP00000428436.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000496549.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "c.2276G>A",
"hgvs_p": "p.Arg759Gln",
"transcript": "NM_016652.6",
"protein_id": "NP_057736.4",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 848,
"cds_start": 2276,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016652.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "c.2240G>A",
"hgvs_p": "p.Arg747Gln",
"transcript": "NM_001278625.2",
"protein_id": "NP_001265554.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 836,
"cds_start": 2240,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278625.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "c.1622G>A",
"hgvs_p": "p.Arg541Gln",
"transcript": "ENST00000886215.1",
"protein_id": "ENSP00000556274.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 630,
"cds_start": 1622,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886215.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "c.1424G>A",
"hgvs_p": "p.Arg475Gln",
"transcript": "NM_001278626.2",
"protein_id": "NP_001265555.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 564,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278626.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "c.1424G>A",
"hgvs_p": "p.Arg475Gln",
"transcript": "NM_001278627.2",
"protein_id": "NP_001265556.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 564,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278627.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "c.1046G>A",
"hgvs_p": "p.Arg349Gln",
"transcript": "XM_047440187.1",
"protein_id": "XP_047296143.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 438,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440187.1"
},
{
"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": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "n.409G>A",
"hgvs_p": null,
"transcript": "ENST00000490258.1",
"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": "ENST00000490258.1"
},
{
"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": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "n.213G>A",
"hgvs_p": null,
"transcript": "ENST00000521379.1",
"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": "ENST00000521379.1"
}
],
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"dbsnp": "rs141413150",
"frequency_reference_population": 0.0000229241,
"hom_count_reference_population": 0,
"allele_count_reference_population": 37,
"gnomad_exomes_af": 0.0000143652,
"gnomad_genomes_af": 0.000105152,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11387771368026733,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.01,
"revel_prediction": "Benign",
"alphamissense_score": 0.1098,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.477,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 6,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_016652.6",
"gene_symbol": "CRNKL1",
"hgnc_id": 15762,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2276G>A",
"hgvs_p": "p.Arg759Gln"
}
],
"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
}