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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: 20-20039729-TCC-CCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=20039729&ref=TCC&alt=CCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CRNKL1",
"hgnc_id": 15762,
"hgvs_c": "c.1906_1908delGGAinsCGG",
"hgvs_p": "p.Gly636Arg",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_016652.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 687,
"aa_ref": "G",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4015,
"cdna_start": 1549,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1423,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278628.2",
"gene_hgnc_id": 15762,
"gene_symbol": "CRNKL1",
"hgvs_c": "c.1423_1425delGGAinsCGG",
"hgvs_p": "p.Gly475Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000536226.2",
"protein_coding": true,
"protein_id": "NP_001265557.1",
"strand": false,
"transcript": "NM_001278628.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 687,
"aa_ref": "G",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4015,
"cdna_start": 1549,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1423,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000536226.2",
"gene_hgnc_id": 15762,
"gene_symbol": "CRNKL1",
"hgvs_c": "c.1423_1425delGGAinsCGG",
"hgvs_p": "p.Gly475Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001278628.2",
"protein_coding": true,
"protein_id": "ENSP00000440733.1",
"strand": false,
"transcript": "ENST00000536226.2",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 848,
"aa_ref": "G",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4406,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 2547,
"cds_start": 1906,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377340.6",
"gene_hgnc_id": 15762,
"gene_symbol": "CRNKL1",
"hgvs_c": "c.1906_1908delGGAinsCGG",
"hgvs_p": "p.Gly636Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366557.2",
"strand": false,
"transcript": "ENST00000377340.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 836,
"aa_ref": "G",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4370,
"cdna_start": 1904,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1870,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377327.8",
"gene_hgnc_id": 15762,
"gene_symbol": "CRNKL1",
"hgvs_c": "c.1870_1872delGGAinsCGG",
"hgvs_p": "p.Gly624Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366544.4",
"strand": false,
"transcript": "ENST00000377327.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4183,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000490910.5",
"gene_hgnc_id": 15762,
"gene_symbol": "CRNKL1",
"hgvs_c": "n.*1368_*1370delGGAinsCGG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000429226.1",
"strand": false,
"transcript": "ENST00000490910.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4093,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000496549.5",
"gene_hgnc_id": 15762,
"gene_symbol": "CRNKL1",
"hgvs_c": "n.*1368_*1370delGGAinsCGG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000428436.1",
"strand": false,
"transcript": "ENST00000496549.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4183,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000490910.5",
"gene_hgnc_id": 15762,
"gene_symbol": "CRNKL1",
"hgvs_c": "n.*1368_*1370delGGAinsCGG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000429226.1",
"strand": false,
"transcript": "ENST00000490910.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4093,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000496549.5",
"gene_hgnc_id": 15762,
"gene_symbol": "CRNKL1",
"hgvs_c": "n.*1368_*1370delGGAinsCGG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000428436.1",
"strand": false,
"transcript": "ENST00000496549.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 848,
"aa_ref": "G",
"aa_start": 636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4406,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 2547,
"cds_start": 1906,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016652.6",
"gene_hgnc_id": 15762,
"gene_symbol": "CRNKL1",
"hgvs_c": "c.1906_1908delGGAinsCGG",
"hgvs_p": "p.Gly636Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057736.4",
"strand": false,
"transcript": "NM_016652.6",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 836,
"aa_ref": "G",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4370,
"cdna_start": 1904,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1870,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278625.2",
"gene_hgnc_id": 15762,
"gene_symbol": "CRNKL1",
"hgvs_c": "c.1870_1872delGGAinsCGG",
"hgvs_p": "p.Gly624Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265554.1",
"strand": false,
"transcript": "NM_001278625.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 630,
"aa_ref": "G",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2845,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1252,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886215.1",
"gene_hgnc_id": 15762,
"gene_symbol": "CRNKL1",
"hgvs_c": "c.1252_1254delGGAinsCGG",
"hgvs_p": "p.Gly418Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556274.1",
"strand": false,
"transcript": "ENST00000886215.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 564,
"aa_ref": "G",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4183,
"cdna_start": 1717,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1054,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278626.2",
"gene_hgnc_id": 15762,
"gene_symbol": "CRNKL1",
"hgvs_c": "c.1054_1056delGGAinsCGG",
"hgvs_p": "p.Gly352Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265555.1",
"strand": false,
"transcript": "NM_001278626.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 564,
"aa_ref": "G",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4093,
"cdna_start": 1627,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1054,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278627.2",
"gene_hgnc_id": 15762,
"gene_symbol": "CRNKL1",
"hgvs_c": "c.1054_1056delGGAinsCGG",
"hgvs_p": "p.Gly352Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265556.1",
"strand": false,
"transcript": "NM_001278627.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 438,
"aa_ref": "G",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3924,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 1317,
"cds_start": 676,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047440187.1",
"gene_hgnc_id": 15762,
"gene_symbol": "CRNKL1",
"hgvs_c": "c.676_678delGGAinsCGG",
"hgvs_p": "p.Gly226Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296143.1",
"strand": false,
"transcript": "XM_047440187.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 15762,
"gene_symbol": "CRNKL1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.602,
"pos": 20039729,
"ref": "TCC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_016652.6"
}
]
}