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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: 13-24884083-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=24884083&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 24884083,
"ref": "T",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_018451.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"hgvs_c": "c.3704A>T",
"hgvs_p": "p.Glu1235Val",
"transcript": "NM_018451.5",
"protein_id": "NP_060921.3",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1338,
"cds_start": 3704,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381884.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018451.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"hgvs_c": "c.3704A>T",
"hgvs_p": "p.Glu1235Val",
"transcript": "ENST00000381884.9",
"protein_id": "ENSP00000371308.4",
"transcript_support_level": 1,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1338,
"cds_start": 3704,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018451.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381884.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"hgvs_c": "n.*358A>T",
"hgvs_p": null,
"transcript": "ENST00000616936.4",
"protein_id": "ENSP00000477511.1",
"transcript_support_level": 1,
"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": "ENST00000616936.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"hgvs_c": "n.*358A>T",
"hgvs_p": null,
"transcript": "ENST00000616936.4",
"protein_id": "ENSP00000477511.1",
"transcript_support_level": 1,
"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": "ENST00000616936.4"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"hgvs_c": "c.3785A>T",
"hgvs_p": "p.Glu1262Val",
"transcript": "ENST00000926443.1",
"protein_id": "ENSP00000596502.1",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1365,
"cds_start": 3785,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926443.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"hgvs_c": "c.3704A>T",
"hgvs_p": "p.Glu1235Val",
"transcript": "ENST00000926448.1",
"protein_id": "ENSP00000596507.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1338,
"cds_start": 3704,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926448.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"hgvs_c": "c.3680A>T",
"hgvs_p": "p.Glu1227Val",
"transcript": "ENST00000868792.1",
"protein_id": "ENSP00000538851.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1330,
"cds_start": 3680,
"cds_end": null,
"cds_length": 3993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868792.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"hgvs_c": "c.3668A>T",
"hgvs_p": "p.Glu1223Val",
"transcript": "ENST00000926447.1",
"protein_id": "ENSP00000596506.1",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1326,
"cds_start": 3668,
"cds_end": null,
"cds_length": 3981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926447.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"hgvs_c": "c.3626A>T",
"hgvs_p": "p.Glu1209Val",
"transcript": "ENST00000926441.1",
"protein_id": "ENSP00000596500.1",
"transcript_support_level": null,
"aa_start": 1209,
"aa_end": null,
"aa_length": 1312,
"cds_start": 3626,
"cds_end": null,
"cds_length": 3939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926441.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"hgvs_c": "c.3614A>T",
"hgvs_p": "p.Glu1205Val",
"transcript": "ENST00000926445.1",
"protein_id": "ENSP00000596504.1",
"transcript_support_level": null,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1308,
"cds_start": 3614,
"cds_end": null,
"cds_length": 3927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926445.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"hgvs_c": "c.3593A>T",
"hgvs_p": "p.Glu1198Val",
"transcript": "ENST00000926446.1",
"protein_id": "ENSP00000596505.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1301,
"cds_start": 3593,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926446.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"hgvs_c": "c.3503A>T",
"hgvs_p": "p.Glu1168Val",
"transcript": "ENST00000926444.1",
"protein_id": "ENSP00000596503.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1271,
"cds_start": 3503,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926444.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"hgvs_c": "c.3452A>T",
"hgvs_p": "p.Glu1151Val",
"transcript": "ENST00000926442.1",
"protein_id": "ENSP00000596501.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1254,
"cds_start": 3452,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926442.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"hgvs_c": "c.3401A>T",
"hgvs_p": "p.Glu1134Val",
"transcript": "ENST00000926440.1",
"protein_id": "ENSP00000596499.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1237,
"cds_start": 3401,
"cds_end": null,
"cds_length": 3714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926440.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"hgvs_c": "c.3704A>T",
"hgvs_p": "p.Glu1235Val",
"transcript": "XM_047430483.1",
"protein_id": "XP_047286439.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1338,
"cds_start": 3704,
"cds_end": null,
"cds_length": 4017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430483.1"
},
{
"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": 41,
"intron_rank": 40,
"intron_rank_end": null,
"gene_symbol": "RNF17",
"gene_hgnc_id": 10060,
"hgvs_c": "c.*11-4031T>A",
"hgvs_p": null,
"transcript": "XM_011535156.3",
"protein_id": "XP_011533458.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1699,
"cds_start": null,
"cds_end": null,
"cds_length": 5100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535156.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"hgvs_c": "n.*444A>T",
"hgvs_p": null,
"transcript": "ENST00000545981.6",
"protein_id": "ENSP00000441090.2",
"transcript_support_level": 2,
"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": "ENST00000545981.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"hgvs_c": "n.3988A>T",
"hgvs_p": null,
"transcript": "NR_047594.2",
"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": "NR_047594.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"hgvs_c": "n.3786A>T",
"hgvs_p": null,
"transcript": "NR_047595.2",
"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": "NR_047595.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"hgvs_c": "n.*444A>T",
"hgvs_p": null,
"transcript": "ENST00000545981.6",
"protein_id": "ENSP00000441090.2",
"transcript_support_level": 2,
"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": "ENST00000545981.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"hgvs_c": "n.*247A>T",
"hgvs_p": null,
"transcript": "ENST00000471870.1",
"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": "ENST00000471870.1"
}
],
"gene_symbol": "CPAP",
"gene_hgnc_id": 17272,
"dbsnp": "rs121434311",
"frequency_reference_population": 0.0000013683241,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136832,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.895139217376709,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5419999957084656,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.929,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9137,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.479,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.12,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.867311563904808,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018451.5",
"gene_symbol": "CPAP",
"hgnc_id": 17272,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3704A>T",
"hgvs_p": "p.Glu1235Val"
},
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "XM_011535156.3",
"gene_symbol": "RNF17",
"hgnc_id": 10060,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*11-4031T>A",
"hgvs_p": null
}
],
"clinvar_disease": " autosomal recessive, primary,Microcephaly 6",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Microcephaly 6, primary, autosomal recessive",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}