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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: 17-64519407-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=64519407&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 64519407,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_138363.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Ile",
"transcript": "NM_138363.3",
"protein_id": "NP_612372.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 821,
"cds_start": 560,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000556440.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138363.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Ile",
"transcript": "ENST00000556440.7",
"protein_id": "ENSP00000450461.2",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 821,
"cds_start": 560,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138363.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556440.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"hgvs_c": "n.*279C>T",
"hgvs_p": null,
"transcript": "ENST00000553956.6",
"protein_id": "ENSP00000452317.2",
"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": "ENST00000553956.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"hgvs_c": "n.*279C>T",
"hgvs_p": null,
"transcript": "ENST00000553956.6",
"protein_id": "ENSP00000452317.2",
"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": "ENST00000553956.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Ile",
"transcript": "ENST00000874175.1",
"protein_id": "ENSP00000544234.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 779,
"cds_start": 560,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874175.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Ile",
"transcript": "ENST00000959869.1",
"protein_id": "ENSP00000629928.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 723,
"cds_start": 560,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959869.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"hgvs_c": "c.68C>T",
"hgvs_p": "p.Thr23Ile",
"transcript": "NM_001316990.2",
"protein_id": "NP_001303919.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 657,
"cds_start": 68,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316990.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"hgvs_c": "c.68C>T",
"hgvs_p": "p.Thr23Ile",
"transcript": "ENST00000580188.1",
"protein_id": "ENSP00000467102.1",
"transcript_support_level": 4,
"aa_start": 23,
"aa_end": null,
"aa_length": 55,
"cds_start": 68,
"cds_end": null,
"cds_length": 170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580188.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Thr235Ile",
"transcript": "XM_047437012.1",
"protein_id": "XP_047292968.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 870,
"cds_start": 704,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437012.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Thr235Ile",
"transcript": "XM_047437013.1",
"protein_id": "XP_047292969.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 869,
"cds_start": 704,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437013.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Ile",
"transcript": "XM_005257779.4",
"protein_id": "XP_005257836.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 822,
"cds_start": 560,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257779.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"hgvs_c": "c.68C>T",
"hgvs_p": "p.Thr23Ile",
"transcript": "XM_047437014.1",
"protein_id": "XP_047292970.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 658,
"cds_start": 68,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437014.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Thr235Ile",
"transcript": "XM_047437015.1",
"protein_id": "XP_047292971.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 572,
"cds_start": 704,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437015.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Ile",
"transcript": "XM_047437016.1",
"protein_id": "XP_047292972.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 524,
"cds_start": 560,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437016.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Thr235Ile",
"transcript": "XM_047437017.1",
"protein_id": "XP_047292973.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 488,
"cds_start": 704,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437017.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"hgvs_c": "c.-93C>T",
"hgvs_p": null,
"transcript": "XM_017025288.3",
"protein_id": "XP_016880777.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 610,
"cds_start": null,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025288.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"hgvs_c": "n.86C>T",
"hgvs_p": null,
"transcript": "ENST00000577960.1",
"protein_id": "ENSP00000462639.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000577960.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"hgvs_c": "n.454C>T",
"hgvs_p": null,
"transcript": "ENST00000579860.5",
"protein_id": "ENSP00000462779.1",
"transcript_support_level": 5,
"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": "ENST00000579860.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"hgvs_c": "n.700C>T",
"hgvs_p": null,
"transcript": "NR_133644.2",
"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_133644.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"hgvs_c": "n.2371C>T",
"hgvs_p": null,
"transcript": "XR_007065529.1",
"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_007065529.1"
}
],
"gene_symbol": "CEP95",
"gene_hgnc_id": 25141,
"dbsnp": "rs782337349",
"frequency_reference_population": 0.0000068177987,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000684355,
"gnomad_genomes_af": 0.00000657056,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7791616916656494,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.364,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7519,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.634,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.14,
"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_138363.3",
"gene_symbol": "CEP95",
"hgnc_id": 25141,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.560C>T",
"hgvs_p": "p.Thr187Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}