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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: 16-67185040-GGC-TGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67185040&ref=GGC&alt=TGT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "EXOC3L1",
"hgnc_id": 27540,
"hgvs_c": "c.1765_1767delGCCinsACA",
"hgvs_p": "p.Ala589Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_178516.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TGT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 746,
"aa_ref": "A",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2429,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1765,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_178516.4",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1765_1767delGCCinsACA",
"hgvs_p": "p.Ala589Thr",
"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": "T",
"aa_end": null,
"aa_length": 746,
"aa_ref": "A",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2429,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1765,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000314586.11",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1765_1767delGCCinsACA",
"hgvs_p": "p.Ala589Thr",
"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": "T",
"aa_end": null,
"aa_length": 751,
"aa_ref": "A",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2550,
"cdna_start": 2061,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1780,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925360.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1780_1782delGCCinsACA",
"hgvs_p": "p.Ala594Thr",
"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": "T",
"aa_end": null,
"aa_length": 751,
"aa_ref": "A",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2620,
"cdna_start": 2134,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1780,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925362.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1780_1782delGCCinsACA",
"hgvs_p": "p.Ala594Thr",
"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": "T",
"aa_end": null,
"aa_length": 751,
"aa_ref": "A",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2460,
"cdna_start": 1973,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1780,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951007.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1780_1782delGCCinsACA",
"hgvs_p": "p.Ala594Thr",
"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": "T",
"aa_end": null,
"aa_length": 746,
"aa_ref": "A",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2817,
"cdna_start": 2263,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1765,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855140.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1765_1767delGCCinsACA",
"hgvs_p": "p.Ala589Thr",
"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": "T",
"aa_end": null,
"aa_length": 746,
"aa_ref": "A",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": 2147,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1765,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855142.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1765_1767delGCCinsACA",
"hgvs_p": "p.Ala589Thr",
"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": "T",
"aa_end": null,
"aa_length": 746,
"aa_ref": "A",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2557,
"cdna_start": 2068,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1765,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925361.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1765_1767delGCCinsACA",
"hgvs_p": "p.Ala589Thr",
"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": "T",
"aa_end": null,
"aa_length": 709,
"aa_ref": "A",
"aa_start": 552,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2329,
"cdna_start": 1839,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1654,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951005.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1654_1656delGCCinsACA",
"hgvs_p": "p.Ala552Thr",
"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": "T",
"aa_end": null,
"aa_length": 704,
"aa_ref": "A",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2658,
"cdna_start": 2170,
"cds_end": null,
"cds_length": 2115,
"cds_start": 1639,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951004.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1639_1641delGCCinsACA",
"hgvs_p": "p.Ala547Thr",
"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": "T",
"aa_end": null,
"aa_length": 704,
"aa_ref": "A",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2390,
"cdna_start": 1902,
"cds_end": null,
"cds_length": 2115,
"cds_start": 1639,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951006.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1639_1641delGCCinsACA",
"hgvs_p": "p.Ala547Thr",
"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": "T",
"aa_end": null,
"aa_length": 704,
"aa_ref": "A",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2419,
"cdna_start": 1932,
"cds_end": null,
"cds_length": 2115,
"cds_start": 1639,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951008.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1639_1641delGCCinsACA",
"hgvs_p": "p.Ala547Thr",
"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": "T",
"aa_end": null,
"aa_length": 685,
"aa_ref": "A",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 1790,
"cds_end": null,
"cds_length": 2058,
"cds_start": 1582,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855141.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1582_1584delGCCinsACA",
"hgvs_p": "p.Ala528Thr",
"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": "T",
"aa_end": null,
"aa_length": 683,
"aa_ref": "A",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2225,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1471,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000563889.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1471_1473delGCCinsACA",
"hgvs_p": "p.Ala491Thr",
"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": "T",
"aa_end": null,
"aa_length": 678,
"aa_ref": "A",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": 1667,
"cds_end": null,
"cds_length": 2038,
"cds_start": 1456,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000545725.6",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1456_1458delGCCinsACA",
"hgvs_p": "p.Ala486Thr",
"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": "T",
"aa_end": null,
"aa_length": 643,
"aa_ref": "A",
"aa_start": 486,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2204,
"cdna_start": 1715,
"cds_end": null,
"cds_length": 1932,
"cds_start": 1456,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855143.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1456_1458delGCCinsACA",
"hgvs_p": "p.Ala486Thr",
"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": "T",
"aa_end": null,
"aa_length": 563,
"aa_ref": "A",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1880,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 1692,
"cds_start": 1216,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855144.1",
"gene_hgnc_id": 27540,
"gene_symbol": "EXOC3L1",
"hgvs_c": "c.1216_1218delGCCinsACA",
"hgvs_p": "p.Ala406Thr",
"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+94_1749+96delGCCinsACA",
"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.443_445delGCCinsACA",
"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.*689_*691delGCCinsACA",
"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",
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