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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: 16-67185027-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67185027&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EXOC3L1",
"hgnc_id": 27540,
"hgvs_c": "c.1780G>C",
"hgvs_p": "p.Val594Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_178516.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_score": -1,
"allele_count_reference_population": 49,
"alphamissense_prediction": null,
"alphamissense_score": 0.2308,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.40648990869522095,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 746,
"aa_ref": "V",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2429,
"cdna_start": 1953,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1780,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_178516.4",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1780G>C",
"hgvs_p": "p.Val594Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000314586.11",
"protein_coding": true,
"protein_id": "NP_848611.2",
"strand": false,
"transcript": "NM_178516.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 746,
"aa_ref": "V",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2429,
"cdna_start": 1953,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1780,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000314586.11",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1780G>C",
"hgvs_p": "p.Val594Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_178516.4",
"protein_coding": true,
"protein_id": "ENSP00000325674.6",
"strand": false,
"transcript": "ENST00000314586.11",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 751,
"aa_ref": "V",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2550,
"cdna_start": 2074,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1795,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000925360.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1795G>C",
"hgvs_p": "p.Val599Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595419.1",
"strand": false,
"transcript": "ENST00000925360.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 751,
"aa_ref": "V",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2620,
"cdna_start": 2147,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1795,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000925362.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1795G>C",
"hgvs_p": "p.Val599Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595421.1",
"strand": false,
"transcript": "ENST00000925362.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 751,
"aa_ref": "V",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2460,
"cdna_start": 1986,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1795,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000951007.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1795G>C",
"hgvs_p": "p.Val599Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621066.1",
"strand": false,
"transcript": "ENST00000951007.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 746,
"aa_ref": "V",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2817,
"cdna_start": 2276,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1780,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000855140.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1780G>C",
"hgvs_p": "p.Val594Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525199.1",
"strand": false,
"transcript": "ENST00000855140.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 746,
"aa_ref": "V",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": 2160,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1780,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000855142.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1780G>C",
"hgvs_p": "p.Val594Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525201.1",
"strand": false,
"transcript": "ENST00000855142.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 746,
"aa_ref": "V",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2557,
"cdna_start": 2081,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1780,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000925361.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1780G>C",
"hgvs_p": "p.Val594Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595420.1",
"strand": false,
"transcript": "ENST00000925361.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 709,
"aa_ref": "V",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2329,
"cdna_start": 1852,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1669,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000951005.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1669G>C",
"hgvs_p": "p.Val557Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621064.1",
"strand": false,
"transcript": "ENST00000951005.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 704,
"aa_ref": "V",
"aa_start": 552,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2658,
"cdna_start": 2183,
"cds_end": null,
"cds_length": 2115,
"cds_start": 1654,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000951004.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1654G>C",
"hgvs_p": "p.Val552Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621063.1",
"strand": false,
"transcript": "ENST00000951004.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 704,
"aa_ref": "V",
"aa_start": 552,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2390,
"cdna_start": 1915,
"cds_end": null,
"cds_length": 2115,
"cds_start": 1654,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000951006.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1654G>C",
"hgvs_p": "p.Val552Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621065.1",
"strand": false,
"transcript": "ENST00000951006.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 704,
"aa_ref": "V",
"aa_start": 552,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2419,
"cdna_start": 1945,
"cds_end": null,
"cds_length": 2115,
"cds_start": 1654,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000951008.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1654G>C",
"hgvs_p": "p.Val552Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621067.1",
"strand": false,
"transcript": "ENST00000951008.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 2058,
"cds_start": 1597,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000855141.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1597G>C",
"hgvs_p": "p.Val533Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525200.1",
"strand": false,
"transcript": "ENST00000855141.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 683,
"aa_ref": "V",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2225,
"cdna_start": 1659,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000563889.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1486G>C",
"hgvs_p": "p.Val496Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455223.1",
"strand": false,
"transcript": "ENST00000563889.1",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 678,
"aa_ref": "V",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": 1680,
"cds_end": null,
"cds_length": 2038,
"cds_start": 1471,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000545725.6",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1471G>C",
"hgvs_p": "p.Val491Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439910.2",
"strand": false,
"transcript": "ENST00000545725.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 643,
"aa_ref": "V",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2204,
"cdna_start": 1728,
"cds_end": null,
"cds_length": 1932,
"cds_start": 1471,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000855143.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1471G>C",
"hgvs_p": "p.Val491Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525202.1",
"strand": false,
"transcript": "ENST00000855143.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 563,
"aa_ref": "V",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1880,
"cdna_start": 1407,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000855144.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1231G>C",
"hgvs_p": "p.Val411Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525203.1",
"strand": false,
"transcript": "ENST00000855144.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 694,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2255,
"cdna_start": null,
"cds_end": null,
"cds_length": 2085,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951009.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1749+109G>C",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621068.1",
"strand": false,
"transcript": "ENST00000951009.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 807,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000563536.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "n.458G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000563536.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1845,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000564324.5",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "n.*704G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456435.1",
"strand": false,
"transcript": "ENST00000564324.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1845,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000564324.5",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "n.*704G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456435.1",
"strand": false,
"transcript": "ENST00000564324.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs774919316",
"effect": "missense_variant",
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"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"gnomad_exomes_ac": 47,
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"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.898,
"pos": 67185027,
"ref": "C",
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"revel_score": 0.161,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.09000000357627869,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_178516.4"
}
]
}