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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: 20-505182-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=505182&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 505182,
"ref": "T",
"alt": "C",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_177560.3",
"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": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.-260A>G",
"hgvs_p": null,
"transcript": "ENST00000349736.10",
"protein_id": "ENSP00000339247.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": null,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349736.10"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Tyr50Cys",
"transcript": "NM_177559.3",
"protein_id": "NP_808227.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 391,
"cds_start": 149,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000217244.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177559.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Tyr50Cys",
"transcript": "ENST00000217244.9",
"protein_id": "ENSP00000217244.3",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 391,
"cds_start": 149,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_177559.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000217244.9"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Tyr50Cys",
"transcript": "ENST00000400227.8",
"protein_id": "ENSP00000383086.3",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 385,
"cds_start": 149,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400227.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.-260A>G",
"hgvs_p": null,
"transcript": "ENST00000349736.10",
"protein_id": "ENSP00000339247.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": null,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349736.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.-260A>G",
"hgvs_p": null,
"transcript": "NM_177560.3",
"protein_id": "NP_808228.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": null,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177560.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.-366A>G",
"hgvs_p": null,
"transcript": "ENST00000644003.1",
"protein_id": "ENSP00000495387.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": null,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644003.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.-394A>G",
"hgvs_p": null,
"transcript": "ENST00000646477.1",
"protein_id": "ENSP00000495439.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": null,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646477.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.-260A>G",
"hgvs_p": null,
"transcript": "ENST00000460062.7",
"protein_id": "ENSP00000477147.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 41,
"cds_start": null,
"cds_end": null,
"cds_length": 128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460062.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Tyr50Cys",
"transcript": "NM_001362770.2",
"protein_id": "NP_001349699.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 391,
"cds_start": 149,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362770.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Tyr50Cys",
"transcript": "NM_001362771.2",
"protein_id": "NP_001349700.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 391,
"cds_start": 149,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362771.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Tyr50Cys",
"transcript": "NM_001895.4",
"protein_id": "NP_001886.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 391,
"cds_start": 149,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001895.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Tyr50Cys",
"transcript": "ENST00000400217.7",
"protein_id": "ENSP00000383076.2",
"transcript_support_level": 2,
"aa_start": 50,
"aa_end": null,
"aa_length": 391,
"cds_start": 149,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400217.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Tyr50Cys",
"transcript": "ENST00000643660.1",
"protein_id": "ENSP00000495248.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 391,
"cds_start": 149,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643660.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Tyr50Cys",
"transcript": "ENST00000645623.1",
"protein_id": "ENSP00000495998.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 391,
"cds_start": 149,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645623.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Tyr50Cys",
"transcript": "ENST00000646305.1",
"protein_id": "ENSP00000495902.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 391,
"cds_start": 149,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646305.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Tyr50Cys",
"transcript": "ENST00000646561.1",
"protein_id": "ENSP00000496569.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 391,
"cds_start": 149,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646561.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Tyr50Cys",
"transcript": "ENST00000646814.1",
"protein_id": "ENSP00000495422.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 391,
"cds_start": 149,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646814.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Tyr50Cys",
"transcript": "ENST00000647348.1",
"protein_id": "ENSP00000495912.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 391,
"cds_start": 149,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647348.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Tyr50Cys",
"transcript": "ENST00000858421.1",
"protein_id": "ENSP00000528480.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 391,
"cds_start": 149,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858421.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Tyr50Cys",
"transcript": "ENST00000858422.1",
"protein_id": "ENSP00000528481.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 391,
"cds_start": 149,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858422.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Tyr50Cys",
"transcript": "ENST00000858423.1",
"protein_id": "ENSP00000528482.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 391,
"cds_start": 149,
"cds_end": null,
"cds_length": 1176,
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"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": "ENST00000647155.1"
}
],
"gene_symbol": "CSNK2A1",
"gene_hgnc_id": 2457,
"dbsnp": "rs869312849",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9459915161132812,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.697,
"revel_prediction": "Pathogenic",
"alphamissense_score": 1,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.997,
"phylop100way_prediction": "Pathogenic",
"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": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_177560.3",
"gene_symbol": "CSNK2A1",
"hgnc_id": 2457,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-260A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Okur-Chung neurodevelopmental syndrome,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:1",
"phenotype_combined": "not provided|Okur-Chung neurodevelopmental syndrome",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}