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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: 2-196657042-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=196657042&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 196657042,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000389175.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC150",
"gene_hgnc_id": 26834,
"hgvs_c": "c.482G>C",
"hgvs_p": "p.Arg161Pro",
"transcript": "NM_001080539.2",
"protein_id": "NP_001074008.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 1101,
"cds_start": 482,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": "ENST00000389175.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC150",
"gene_hgnc_id": 26834,
"hgvs_c": "c.482G>C",
"hgvs_p": "p.Arg161Pro",
"transcript": "ENST00000389175.9",
"protein_id": "ENSP00000373827.4",
"transcript_support_level": 5,
"aa_start": 161,
"aa_end": null,
"aa_length": 1101,
"cds_start": 482,
"cds_end": null,
"cds_length": 3306,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": "NM_001080539.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC150",
"gene_hgnc_id": 26834,
"hgvs_c": "c.482G>C",
"hgvs_p": "p.Arg161Pro",
"transcript": "NM_001412753.1",
"protein_id": "NP_001399682.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 1042,
"cds_start": 482,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC150",
"gene_hgnc_id": 26834,
"hgvs_c": "c.482G>C",
"hgvs_p": "p.Arg161Pro",
"transcript": "XM_006712438.4",
"protein_id": "XP_006712501.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 1080,
"cds_start": 482,
"cds_end": null,
"cds_length": 3243,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 3539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC150",
"gene_hgnc_id": 26834,
"hgvs_c": "c.482G>C",
"hgvs_p": "p.Arg161Pro",
"transcript": "XM_017003861.2",
"protein_id": "XP_016859350.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 1049,
"cds_start": 482,
"cds_end": null,
"cds_length": 3150,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC150",
"gene_hgnc_id": 26834,
"hgvs_c": "c.482G>C",
"hgvs_p": "p.Arg161Pro",
"transcript": "XM_017003863.2",
"protein_id": "XP_016859352.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 1015,
"cds_start": 482,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 3344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC150",
"gene_hgnc_id": 26834,
"hgvs_c": "c.482G>C",
"hgvs_p": "p.Arg161Pro",
"transcript": "XM_047443975.1",
"protein_id": "XP_047299931.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 977,
"cds_start": 482,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC150",
"gene_hgnc_id": 26834,
"hgvs_c": "c.173G>C",
"hgvs_p": "p.Arg58Pro",
"transcript": "XM_047443976.1",
"protein_id": "XP_047299932.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 912,
"cds_start": 173,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC150",
"gene_hgnc_id": 26834,
"hgvs_c": "c.173G>C",
"hgvs_p": "p.Arg58Pro",
"transcript": "XM_047443977.1",
"protein_id": "XP_047299933.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 842,
"cds_start": 173,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC150",
"gene_hgnc_id": 26834,
"hgvs_c": "c.482G>C",
"hgvs_p": "p.Arg161Pro",
"transcript": "XM_017003864.2",
"protein_id": "XP_016859353.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 789,
"cds_start": 482,
"cds_end": null,
"cds_length": 2370,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 3181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC150",
"gene_hgnc_id": 26834,
"hgvs_c": "c.482G>C",
"hgvs_p": "p.Arg161Pro",
"transcript": "XM_047443978.1",
"protein_id": "XP_047299934.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 733,
"cds_start": 482,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC150",
"gene_hgnc_id": 26834,
"hgvs_c": "n.474G>C",
"hgvs_p": null,
"transcript": "ENST00000471033.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC150",
"gene_hgnc_id": 26834,
"hgvs_c": "n.617G>C",
"hgvs_p": null,
"transcript": "ENST00000471546.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC150",
"gene_hgnc_id": 26834,
"hgvs_c": "n.194G>C",
"hgvs_p": null,
"transcript": "ENST00000495513.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC150",
"gene_hgnc_id": 26834,
"hgvs_c": "c.-173-1750G>C",
"hgvs_p": null,
"transcript": "NM_001353339.2",
"protein_id": "NP_001340268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 748,
"cds_start": -4,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC150",
"gene_hgnc_id": 26834,
"hgvs_c": "n.177-1750G>C",
"hgvs_p": null,
"transcript": "ENST00000431807.6",
"protein_id": "ENSP00000389008.2",
"transcript_support_level": 2,
"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": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC150",
"gene_hgnc_id": 26834,
"hgvs_c": "n.228+10538G>C",
"hgvs_p": null,
"transcript": "ENST00000498512.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CCDC150",
"gene_hgnc_id": 26834,
"dbsnp": "rs369742781",
"frequency_reference_population": 6.842323e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84232e-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": 0.6698015928268433,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.176,
"revel_prediction": "Benign",
"alphamissense_score": 0.7507,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.986,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000389175.9",
"gene_symbol": "CCDC150",
"hgnc_id": 26834,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.482G>C",
"hgvs_p": "p.Arg161Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}