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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: 2-117975255-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=117975255&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 117975255,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_019044.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC93",
"gene_hgnc_id": 25611,
"hgvs_c": "c.683C>G",
"hgvs_p": "p.Pro228Arg",
"transcript": "NM_019044.5",
"protein_id": "NP_061917.3",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 631,
"cds_start": 683,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376300.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019044.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC93",
"gene_hgnc_id": 25611,
"hgvs_c": "c.683C>G",
"hgvs_p": "p.Pro228Arg",
"transcript": "ENST00000376300.7",
"protein_id": "ENSP00000365477.2",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 631,
"cds_start": 683,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019044.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376300.7"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC93",
"gene_hgnc_id": 25611,
"hgvs_c": "c.683C>G",
"hgvs_p": "p.Pro228Arg",
"transcript": "ENST00000884940.1",
"protein_id": "ENSP00000554999.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 656,
"cds_start": 683,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884940.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC93",
"gene_hgnc_id": 25611,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Pro234Arg",
"transcript": "ENST00000951763.1",
"protein_id": "ENSP00000621822.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 637,
"cds_start": 701,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951763.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC93",
"gene_hgnc_id": 25611,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Pro234Arg",
"transcript": "ENST00000951764.1",
"protein_id": "ENSP00000621823.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 636,
"cds_start": 701,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951764.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC93",
"gene_hgnc_id": 25611,
"hgvs_c": "c.680C>G",
"hgvs_p": "p.Pro227Arg",
"transcript": "ENST00000319432.9",
"protein_id": "ENSP00000324135.5",
"transcript_support_level": 5,
"aa_start": 227,
"aa_end": null,
"aa_length": 630,
"cds_start": 680,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319432.9"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC93",
"gene_hgnc_id": 25611,
"hgvs_c": "c.683C>G",
"hgvs_p": "p.Pro228Arg",
"transcript": "ENST00000884938.1",
"protein_id": "ENSP00000554997.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 630,
"cds_start": 683,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884938.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC93",
"gene_hgnc_id": 25611,
"hgvs_c": "c.683C>G",
"hgvs_p": "p.Pro228Arg",
"transcript": "ENST00000884939.1",
"protein_id": "ENSP00000554998.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 630,
"cds_start": 683,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884939.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC93",
"gene_hgnc_id": 25611,
"hgvs_c": "c.683C>G",
"hgvs_p": "p.Pro228Arg",
"transcript": "ENST00000926450.1",
"protein_id": "ENSP00000596509.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 630,
"cds_start": 683,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926450.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC93",
"gene_hgnc_id": 25611,
"hgvs_c": "c.683C>G",
"hgvs_p": "p.Pro228Arg",
"transcript": "ENST00000926449.1",
"protein_id": "ENSP00000596508.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 629,
"cds_start": 683,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926449.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC93",
"gene_hgnc_id": 25611,
"hgvs_c": "c.683C>G",
"hgvs_p": "p.Pro228Arg",
"transcript": "ENST00000951766.1",
"protein_id": "ENSP00000621825.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 602,
"cds_start": 683,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951766.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC93",
"gene_hgnc_id": 25611,
"hgvs_c": "c.683C>G",
"hgvs_p": "p.Pro228Arg",
"transcript": "ENST00000951765.1",
"protein_id": "ENSP00000621824.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 593,
"cds_start": 683,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951765.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC93",
"gene_hgnc_id": 25611,
"hgvs_c": "c.683C>G",
"hgvs_p": "p.Pro228Arg",
"transcript": "XM_011511359.2",
"protein_id": "XP_011509661.2",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 630,
"cds_start": 683,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511359.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC93",
"gene_hgnc_id": 25611,
"hgvs_c": "c.395C>G",
"hgvs_p": "p.Pro132Arg",
"transcript": "XM_011511361.1",
"protein_id": "XP_011509663.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 535,
"cds_start": 395,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511361.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC93",
"gene_hgnc_id": 25611,
"hgvs_c": "c.284C>G",
"hgvs_p": "p.Pro95Arg",
"transcript": "XM_047444816.1",
"protein_id": "XP_047300772.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 498,
"cds_start": 284,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444816.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC93",
"gene_hgnc_id": 25611,
"hgvs_c": "c.683C>G",
"hgvs_p": "p.Pro228Arg",
"transcript": "XM_011511363.3",
"protein_id": "XP_011509665.2",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 363,
"cds_start": 683,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511363.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC93",
"gene_hgnc_id": 25611,
"hgvs_c": "c.683C>G",
"hgvs_p": "p.Pro228Arg",
"transcript": "XM_006712600.3",
"protein_id": "XP_006712663.2",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 362,
"cds_start": 683,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712600.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC93",
"gene_hgnc_id": 25611,
"hgvs_c": "n.247C>G",
"hgvs_p": null,
"transcript": "ENST00000460781.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000460781.1"
}
],
"gene_symbol": "CCDC93",
"gene_hgnc_id": 25611,
"dbsnp": "rs17512204",
"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": 0.13291776180267334,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.112,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.646,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_019044.5",
"gene_symbol": "CCDC93",
"hgnc_id": 25611,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.683C>G",
"hgvs_p": "p.Pro228Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}