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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: 6-45949262-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=45949262&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 45949262,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001114086.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIC5",
"gene_hgnc_id": 13517,
"hgvs_c": "c.293C>G",
"hgvs_p": "p.Pro98Arg",
"transcript": "NM_016929.5",
"protein_id": "NP_058625.2",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 251,
"cds_start": 293,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000339561.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016929.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIC5",
"gene_hgnc_id": 13517,
"hgvs_c": "c.293C>G",
"hgvs_p": "p.Pro98Arg",
"transcript": "ENST00000339561.12",
"protein_id": "ENSP00000344165.6",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 251,
"cds_start": 293,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016929.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339561.12"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIC5",
"gene_hgnc_id": 13517,
"hgvs_c": "c.770C>G",
"hgvs_p": "p.Pro257Arg",
"transcript": "ENST00000185206.12",
"protein_id": "ENSP00000185206.6",
"transcript_support_level": 1,
"aa_start": 257,
"aa_end": null,
"aa_length": 410,
"cds_start": 770,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000185206.12"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIC5",
"gene_hgnc_id": 13517,
"hgvs_c": "c.770C>G",
"hgvs_p": "p.Pro257Arg",
"transcript": "NM_001114086.2",
"protein_id": "NP_001107558.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 410,
"cds_start": 770,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114086.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIC5",
"gene_hgnc_id": 13517,
"hgvs_c": "c.770C>G",
"hgvs_p": "p.Pro257Arg",
"transcript": "NM_001370650.1",
"protein_id": "NP_001357579.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 410,
"cds_start": 770,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370650.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIC5",
"gene_hgnc_id": 13517,
"hgvs_c": "c.293C>G",
"hgvs_p": "p.Pro98Arg",
"transcript": "ENST00000644324.1",
"protein_id": "ENSP00000495186.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 242,
"cds_start": 293,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644324.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIC5",
"gene_hgnc_id": 13517,
"hgvs_c": "c.293C>G",
"hgvs_p": "p.Pro98Arg",
"transcript": "ENST00000672327.1",
"protein_id": "ENSP00000500472.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 293,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672327.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIC5",
"gene_hgnc_id": 13517,
"hgvs_c": "c.176C>G",
"hgvs_p": "p.Pro59Arg",
"transcript": "NM_001370649.1",
"protein_id": "NP_001357578.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 212,
"cds_start": 176,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370649.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIC5",
"gene_hgnc_id": 13517,
"hgvs_c": "c.293C>G",
"hgvs_p": "p.Pro98Arg",
"transcript": "NM_001256023.2",
"protein_id": "NP_001242952.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 205,
"cds_start": 293,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256023.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIC5",
"gene_hgnc_id": 13517,
"hgvs_c": "c.293C>G",
"hgvs_p": "p.Pro98Arg",
"transcript": "ENST00000544153.3",
"protein_id": "ENSP00000439195.1",
"transcript_support_level": 2,
"aa_start": 98,
"aa_end": null,
"aa_length": 205,
"cds_start": 293,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544153.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIC5",
"gene_hgnc_id": 13517,
"hgvs_c": "c.293C>G",
"hgvs_p": "p.Pro98Arg",
"transcript": "ENST00000644878.1",
"protein_id": "ENSP00000493894.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 200,
"cds_start": 293,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644878.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIC5",
"gene_hgnc_id": 13517,
"hgvs_c": "c.770C>G",
"hgvs_p": "p.Pro257Arg",
"transcript": "XM_011514692.4",
"protein_id": "XP_011512994.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 371,
"cds_start": 770,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514692.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIC5",
"gene_hgnc_id": 13517,
"hgvs_c": "c.770C>G",
"hgvs_p": "p.Pro257Arg",
"transcript": "XM_011514694.4",
"protein_id": "XP_011512996.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 331,
"cds_start": 770,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514694.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIC5",
"gene_hgnc_id": 13517,
"hgvs_c": "c.293C>G",
"hgvs_p": "p.Pro98Arg",
"transcript": "XM_047418896.1",
"protein_id": "XP_047274852.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 222,
"cds_start": 293,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418896.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIC5",
"gene_hgnc_id": 13517,
"hgvs_c": "c.293C>G",
"hgvs_p": "p.Pro98Arg",
"transcript": "XM_047418897.1",
"protein_id": "XP_047274853.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 212,
"cds_start": 293,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418897.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIC5",
"gene_hgnc_id": 13517,
"hgvs_c": "c.176C>G",
"hgvs_p": "p.Pro59Arg",
"transcript": "XM_047418898.1",
"protein_id": "XP_047274854.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 212,
"cds_start": 176,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418898.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIC5",
"gene_hgnc_id": 13517,
"hgvs_c": "n.293C>G",
"hgvs_p": null,
"transcript": "ENST00000642250.1",
"protein_id": "ENSP00000496359.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000642250.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIC5",
"gene_hgnc_id": 13517,
"hgvs_c": "n.611C>G",
"hgvs_p": null,
"transcript": "XR_007059275.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007059275.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLIC5",
"gene_hgnc_id": 13517,
"hgvs_c": "n.876C>G",
"hgvs_p": null,
"transcript": "XR_926258.4",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_926258.4"
}
],
"gene_symbol": "CLIC5",
"gene_hgnc_id": 13517,
"dbsnp": "rs35822882",
"frequency_reference_population": 6.845058e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84506e-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": 0.7532962560653687,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.407,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4113,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.968,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001114086.2",
"gene_symbol": "CLIC5",
"hgnc_id": 13517,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.770C>G",
"hgvs_p": "p.Pro257Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}