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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: 20-20052443-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=20052443&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 20052443,
"ref": "G",
"alt": "C",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "ENST00000536226.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "c.-101C>G",
"hgvs_p": null,
"transcript": "NM_001278628.2",
"protein_id": "NP_001265557.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": -4,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4015,
"mane_select": "ENST00000536226.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "c.-101C>G",
"hgvs_p": null,
"transcript": "ENST00000536226.2",
"protein_id": "ENSP00000440733.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": -4,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4015,
"mane_select": "NM_001278628.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "c.383C>G",
"hgvs_p": "p.Ser128Cys",
"transcript": "ENST00000377340.6",
"protein_id": "ENSP00000366557.2",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 848,
"cds_start": 383,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 4406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "c.347C>G",
"hgvs_p": "p.Ser116Cys",
"transcript": "ENST00000377327.8",
"protein_id": "ENSP00000366544.4",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 836,
"cds_start": 347,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 4370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "c.-101C>G",
"hgvs_p": null,
"transcript": "NM_001278628.2",
"protein_id": "NP_001265557.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": -4,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4015,
"mane_select": "ENST00000536226.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "c.-101C>G",
"hgvs_p": null,
"transcript": "ENST00000536226.2",
"protein_id": "ENSP00000440733.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 687,
"cds_start": -4,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4015,
"mane_select": "NM_001278628.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "n.311+36C>G",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "n.221+32C>G",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "c.383C>G",
"hgvs_p": "p.Ser128Cys",
"transcript": "NM_016652.6",
"protein_id": "NP_057736.4",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 848,
"cds_start": 383,
"cds_end": null,
"cds_length": 2547,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 4406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "c.347C>G",
"hgvs_p": "p.Ser116Cys",
"transcript": "NM_001278625.2",
"protein_id": "NP_001265554.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 836,
"cds_start": 347,
"cds_end": null,
"cds_length": 2511,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 4370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "c.-319+36C>G",
"hgvs_p": null,
"transcript": "NM_001278626.2",
"protein_id": "NP_001265555.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 564,
"cds_start": -4,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"hgvs_c": "c.-319+32C>G",
"hgvs_p": null,
"transcript": "NM_001278627.2",
"protein_id": "NP_001265556.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 564,
"cds_start": -4,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.-185G>C",
"hgvs_p": null,
"transcript": "NM_015585.4",
"protein_id": "NP_056400.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1237,
"cds_start": -4,
"cds_end": null,
"cds_length": 3714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": "ENST00000245957.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.-185G>C",
"hgvs_p": null,
"transcript": "ENST00000245957.10",
"protein_id": "ENSP00000245957.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1237,
"cds_start": -4,
"cds_end": null,
"cds_length": 3714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": "NM_015585.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.-144G>C",
"hgvs_p": null,
"transcript": "ENST00000340348.10",
"protein_id": "ENSP00000345553.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 369,
"cds_start": -4,
"cds_end": null,
"cds_length": 1112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.-157G>C",
"hgvs_p": null,
"transcript": "ENST00000674269.1",
"protein_id": "ENSP00000501498.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 704,
"cds_start": -4,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.-185G>C",
"hgvs_p": null,
"transcript": "ENST00000377306.5",
"protein_id": "ENSP00000366521.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": -4,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.-227G>C",
"hgvs_p": null,
"transcript": "ENST00000377303.6",
"protein_id": "ENSP00000366518.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": -4,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "c.-298G>C",
"hgvs_p": null,
"transcript": "ENST00000475466.5",
"protein_id": "ENSP00000417086.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": -4,
"cds_end": null,
"cds_length": 407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "n.-157G>C",
"hgvs_p": null,
"transcript": "ENST00000494029.5",
"protein_id": "ENSP00000420438.1",
"transcript_support_level": 4,
"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": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP61",
"gene_hgnc_id": 15872,
"hgvs_c": "n.-80G>C",
"hgvs_p": null,
"transcript": "ENST00000674296.1",
"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": 1430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CRNKL1",
"gene_hgnc_id": 15762,
"dbsnp": "rs1057519885",
"frequency_reference_population": 6.840441e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84044e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06104356050491333,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": 0.081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.09,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000536226.2",
"gene_symbol": "CRNKL1",
"hgnc_id": 15762,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-101C>G",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000245957.10",
"gene_symbol": "CFAP61",
"hgnc_id": 15872,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-185G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}