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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: 16-67185173-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67185173&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67185173,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_178516.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Cys571Tyr",
"transcript": "NM_178516.4",
"protein_id": "NP_848611.2",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 746,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000314586.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178516.4"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Cys571Tyr",
"transcript": "ENST00000314586.11",
"protein_id": "ENSP00000325674.6",
"transcript_support_level": 2,
"aa_start": 571,
"aa_end": null,
"aa_length": 746,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178516.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314586.11"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "c.1727G>A",
"hgvs_p": "p.Cys576Tyr",
"transcript": "ENST00000925360.1",
"protein_id": "ENSP00000595419.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 751,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925360.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "c.1727G>A",
"hgvs_p": "p.Cys576Tyr",
"transcript": "ENST00000925362.1",
"protein_id": "ENSP00000595421.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 751,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925362.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "c.1727G>A",
"hgvs_p": "p.Cys576Tyr",
"transcript": "ENST00000951007.1",
"protein_id": "ENSP00000621066.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 751,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951007.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Cys571Tyr",
"transcript": "ENST00000855140.1",
"protein_id": "ENSP00000525199.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 746,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855140.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Cys571Tyr",
"transcript": "ENST00000855142.1",
"protein_id": "ENSP00000525201.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 746,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855142.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Cys571Tyr",
"transcript": "ENST00000925361.1",
"protein_id": "ENSP00000595420.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 746,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925361.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "c.1601G>A",
"hgvs_p": "p.Cys534Tyr",
"transcript": "ENST00000951005.1",
"protein_id": "ENSP00000621064.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 709,
"cds_start": 1601,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951005.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "c.1586G>A",
"hgvs_p": "p.Cys529Tyr",
"transcript": "ENST00000951004.1",
"protein_id": "ENSP00000621063.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 704,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951004.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "c.1586G>A",
"hgvs_p": "p.Cys529Tyr",
"transcript": "ENST00000951006.1",
"protein_id": "ENSP00000621065.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 704,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951006.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "c.1586G>A",
"hgvs_p": "p.Cys529Tyr",
"transcript": "ENST00000951008.1",
"protein_id": "ENSP00000621067.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 704,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951008.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Cys571Tyr",
"transcript": "ENST00000951009.1",
"protein_id": "ENSP00000621068.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 694,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951009.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "c.1529G>A",
"hgvs_p": "p.Cys510Tyr",
"transcript": "ENST00000855141.1",
"protein_id": "ENSP00000525200.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 685,
"cds_start": 1529,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855141.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "c.1418G>A",
"hgvs_p": "p.Cys473Tyr",
"transcript": "ENST00000563889.1",
"protein_id": "ENSP00000455223.1",
"transcript_support_level": 2,
"aa_start": 473,
"aa_end": null,
"aa_length": 683,
"cds_start": 1418,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000563889.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Cys468Tyr",
"transcript": "ENST00000545725.6",
"protein_id": "ENSP00000439910.2",
"transcript_support_level": 2,
"aa_start": 468,
"aa_end": null,
"aa_length": 678,
"cds_start": 1403,
"cds_end": null,
"cds_length": 2038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545725.6"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Cys468Tyr",
"transcript": "ENST00000855143.1",
"protein_id": "ENSP00000525202.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 643,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855143.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "c.1163G>A",
"hgvs_p": "p.Cys388Tyr",
"transcript": "ENST00000855144.1",
"protein_id": "ENSP00000525203.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 563,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855144.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "n.390G>A",
"hgvs_p": null,
"transcript": "ENST00000563536.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000563536.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "n.*636G>A",
"hgvs_p": null,
"transcript": "ENST00000564324.5",
"protein_id": "ENSP00000456435.1",
"transcript_support_level": 2,
"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": "ENST00000564324.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"hgvs_c": "n.*636G>A",
"hgvs_p": null,
"transcript": "ENST00000564324.5",
"protein_id": "ENSP00000456435.1",
"transcript_support_level": 2,
"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": "ENST00000564324.5"
}
],
"gene_symbol": "EXOC3L1",
"gene_hgnc_id": 27540,
"dbsnp": "rs968788367",
"frequency_reference_population": 0.000004958719,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000410657,
"gnomad_genomes_af": 0.0000131366,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3927804231643677,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.186,
"revel_prediction": "Benign",
"alphamissense_score": 0.6159,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.672,
"phylop100way_prediction": "Benign",
"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_178516.4",
"gene_symbol": "EXOC3L1",
"hgnc_id": 27540,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1712G>A",
"hgvs_p": "p.Cys571Tyr"
}
],
"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
}