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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: 7-133317322-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=133317322&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 133317322,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_021807.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"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": "EXOC4",
"gene_hgnc_id": 30389,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Val232Ala",
"transcript": "NM_021807.4",
"protein_id": "NP_068579.3",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 974,
"cds_start": 695,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 4182,
"mane_select": "ENST00000253861.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021807.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"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": "EXOC4",
"gene_hgnc_id": 30389,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Val232Ala",
"transcript": "ENST00000253861.5",
"protein_id": "ENSP00000253861.4",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 974,
"cds_start": 695,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 4182,
"mane_select": "NM_021807.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253861.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC4",
"gene_hgnc_id": 30389,
"hgvs_c": "n.702T>C",
"hgvs_p": null,
"transcript": "ENST00000462055.5",
"protein_id": null,
"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": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000462055.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "EXOC4",
"gene_hgnc_id": 30389,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Val232Ala",
"transcript": "ENST00000852803.1",
"protein_id": "ENSP00000522862.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 1019,
"cds_start": 695,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 4324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852803.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "EXOC4",
"gene_hgnc_id": 30389,
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Val249Ala",
"transcript": "ENST00000933610.1",
"protein_id": "ENSP00000603669.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 991,
"cds_start": 746,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 775,
"cdna_end": null,
"cdna_length": 4238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933610.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC4",
"gene_hgnc_id": 30389,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Val232Ala",
"transcript": "ENST00000850617.1",
"protein_id": "ENSP00000520904.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 974,
"cds_start": 695,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850617.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"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": "EXOC4",
"gene_hgnc_id": 30389,
"hgvs_c": "c.638T>C",
"hgvs_p": "p.Val213Ala",
"transcript": "ENST00000941115.1",
"protein_id": "ENSP00000611174.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 955,
"cds_start": 638,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 4127,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941115.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC4",
"gene_hgnc_id": 30389,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Val232Ala",
"transcript": "NM_001037126.2",
"protein_id": "NP_001032203.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 473,
"cds_start": 695,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001037126.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC4",
"gene_hgnc_id": 30389,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Val232Ala",
"transcript": "ENST00000393161.6",
"protein_id": "ENSP00000376868.2",
"transcript_support_level": 5,
"aa_start": 232,
"aa_end": null,
"aa_length": 473,
"cds_start": 695,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 1604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393161.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC4",
"gene_hgnc_id": 30389,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Val232Ala",
"transcript": "XM_005250523.6",
"protein_id": "XP_005250580.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 485,
"cds_start": 695,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 1847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250523.6"
},
{
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EXOC4",
"gene_hgnc_id": 30389,
"hgvs_c": "c.656+11261T>C",
"hgvs_p": null,
"transcript": "ENST00000933611.1",
"protein_id": "ENSP00000603670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 857,
"cds_start": null,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933611.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC4",
"gene_hgnc_id": 30389,
"hgvs_c": "n.724T>C",
"hgvs_p": null,
"transcript": "ENST00000486013.5",
"protein_id": null,
"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": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000486013.5"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC4",
"gene_hgnc_id": 30389,
"hgvs_c": "n.719T>C",
"hgvs_p": null,
"transcript": "XR_001744845.3",
"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": 7719,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001744845.3"
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC4",
"gene_hgnc_id": 30389,
"hgvs_c": "n.719T>C",
"hgvs_p": null,
"transcript": "XR_007060122.1",
"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": 3638,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060122.1"
},
{
"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC4",
"gene_hgnc_id": 30389,
"hgvs_c": "n.719T>C",
"hgvs_p": null,
"transcript": "XR_007060123.1",
"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": 4550,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060123.1"
},
{
"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": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC4",
"gene_hgnc_id": 30389,
"hgvs_c": "n.719T>C",
"hgvs_p": null,
"transcript": "XR_007060124.1",
"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": 3734,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060124.1"
},
{
"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": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC4",
"gene_hgnc_id": 30389,
"hgvs_c": "n.719T>C",
"hgvs_p": null,
"transcript": "XR_007060125.1",
"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": 4926,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060125.1"
},
{
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC4",
"gene_hgnc_id": 30389,
"hgvs_c": "n.719T>C",
"hgvs_p": null,
"transcript": "XR_007060126.1",
"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": 5205,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060126.1"
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC4",
"gene_hgnc_id": 30389,
"hgvs_c": "n.719T>C",
"hgvs_p": null,
"transcript": "XR_007060127.1",
"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": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060127.1"
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC4",
"gene_hgnc_id": 30389,
"hgvs_c": "n.719T>C",
"hgvs_p": null,
"transcript": "XR_007060128.1",
"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": 3898,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060128.1"
}
],
"gene_symbol": "EXOC4",
"gene_hgnc_id": 30389,
"dbsnp": "rs1363557706",
"frequency_reference_population": 6.842351e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84235e-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": 0.4182846248149872,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.124,
"revel_prediction": "Benign",
"alphamissense_score": 0.1866,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.808,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021807.4",
"gene_symbol": "EXOC4",
"hgnc_id": 30389,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Val232Ala"
}
],
"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
}