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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: 3-101757754-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=101757754&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 101757754,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000341893.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "c.1148A>C",
"hgvs_p": "p.His383Pro",
"transcript": "NM_024548.4",
"protein_id": "NP_078824.2",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 865,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 7672,
"mane_select": "ENST00000341893.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "c.1148A>C",
"hgvs_p": "p.His383Pro",
"transcript": "ENST00000341893.8",
"protein_id": "ENSP00000342510.3",
"transcript_support_level": 1,
"aa_start": 383,
"aa_end": null,
"aa_length": 865,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 7672,
"mane_select": "NM_024548.4",
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "n.1130A>C",
"hgvs_p": null,
"transcript": "ENST00000489172.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "c.1142A>C",
"hgvs_p": "p.His381Pro",
"transcript": "ENST00000704370.1",
"protein_id": "ENSP00000515877.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 863,
"cds_start": 1142,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 7615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "c.1046A>C",
"hgvs_p": "p.His349Pro",
"transcript": "NM_001410784.1",
"protein_id": "NP_001397713.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 831,
"cds_start": 1046,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 7570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "c.1046A>C",
"hgvs_p": "p.His349Pro",
"transcript": "ENST00000704366.1",
"protein_id": "ENSP00000515874.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 831,
"cds_start": 1046,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 7562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "c.932A>C",
"hgvs_p": "p.His311Pro",
"transcript": "ENST00000704444.1",
"protein_id": "ENSP00000515896.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 793,
"cds_start": 932,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 4402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "c.800A>C",
"hgvs_p": "p.His267Pro",
"transcript": "ENST00000704445.1",
"protein_id": "ENSP00000515897.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 749,
"cds_start": 800,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 5091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "c.662A>C",
"hgvs_p": "p.His221Pro",
"transcript": "ENST00000704369.1",
"protein_id": "ENSP00000515876.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 703,
"cds_start": 662,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 796,
"cdna_end": null,
"cdna_length": 7249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "c.800A>C",
"hgvs_p": "p.His267Pro",
"transcript": "XM_047448917.1",
"protein_id": "XP_047304873.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 749,
"cds_start": 800,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 7359,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "n.*783A>C",
"hgvs_p": null,
"transcript": "ENST00000465011.2",
"protein_id": "ENSP00000419009.1",
"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": 7686,
"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": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "n.*235A>C",
"hgvs_p": null,
"transcript": "ENST00000467655.2",
"protein_id": "ENSP00000418547.2",
"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": 2139,
"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": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "n.1148A>C",
"hgvs_p": null,
"transcript": "ENST00000704365.1",
"protein_id": "ENSP00000515873.1",
"transcript_support_level": null,
"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": 7786,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "n.1641A>C",
"hgvs_p": null,
"transcript": "ENST00000704368.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 8094,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "n.1502A>C",
"hgvs_p": null,
"transcript": "ENST00000704372.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 7955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "n.*783A>C",
"hgvs_p": null,
"transcript": "ENST00000465011.2",
"protein_id": "ENSP00000419009.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "n.*235A>C",
"hgvs_p": null,
"transcript": "ENST00000467655.2",
"protein_id": "ENSP00000418547.2",
"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,
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"cdna_length": 2139,
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "c.1028-57A>C",
"hgvs_p": null,
"transcript": "NM_001303401.2",
"protein_id": "NP_001290330.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
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"cdna_length": 7495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "c.1028-57A>C",
"hgvs_p": null,
"transcript": "ENST00000494050.5",
"protein_id": "ENSP00000418185.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "c.926-57A>C",
"hgvs_p": null,
"transcript": "NM_001410785.1",
"protein_id": "NP_001397714.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "c.926-57A>C",
"hgvs_p": null,
"transcript": "ENST00000704367.1",
"protein_id": "ENSP00000515875.1",
"transcript_support_level": null,
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"aa_end": null,
"aa_length": 772,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"hgvs_c": "c.1048+558A>C",
"hgvs_p": null,
"transcript": "ENST00000704446.1",
"protein_id": "ENSP00000515898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": -4,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CEP97",
"gene_hgnc_id": 26244,
"dbsnp": "rs1060499739",
"frequency_reference_population": 0.0000013680976,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013681,
"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": 0.7199609279632568,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.195,
"revel_prediction": "Benign",
"alphamissense_score": 0.1792,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.714,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000341893.8",
"gene_symbol": "CEP97",
"hgnc_id": 26244,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1148A>C",
"hgvs_p": "p.His383Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}