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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: 9-71685313-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=71685313&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 71685313,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_013390.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.4036C>G",
"hgvs_p": "p.Leu1346Val",
"transcript": "NM_013390.3",
"protein_id": "NP_037522.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1383,
"cds_start": 4036,
"cds_end": null,
"cds_length": 4152,
"cdna_start": 4205,
"cdna_end": null,
"cdna_length": 6152,
"mane_select": "ENST00000377044.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013390.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.4036C>G",
"hgvs_p": "p.Leu1346Val",
"transcript": "ENST00000377044.9",
"protein_id": "ENSP00000366243.4",
"transcript_support_level": 1,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1383,
"cds_start": 4036,
"cds_end": null,
"cds_length": 4152,
"cdna_start": 4205,
"cdna_end": null,
"cdna_length": 6152,
"mane_select": "NM_013390.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377044.9"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.3847C>G",
"hgvs_p": "p.Leu1283Val",
"transcript": "ENST00000377066.9",
"protein_id": "ENSP00000366266.5",
"transcript_support_level": 1,
"aa_start": 1283,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3847,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 3889,
"cdna_end": null,
"cdna_length": 5217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377066.9"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "n.1767C>G",
"hgvs_p": null,
"transcript": "ENST00000538669.1",
"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": 3509,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000538669.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "n.*2259C>G",
"hgvs_p": null,
"transcript": "ENST00000542935.5",
"protein_id": "ENSP00000437750.1",
"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": 5372,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000542935.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "n.*2259C>G",
"hgvs_p": null,
"transcript": "ENST00000542935.5",
"protein_id": "ENSP00000437750.1",
"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": 5372,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000542935.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.4054C>G",
"hgvs_p": "p.Leu1352Val",
"transcript": "ENST00000971297.1",
"protein_id": "ENSP00000641356.1",
"transcript_support_level": null,
"aa_start": 1352,
"aa_end": null,
"aa_length": 1389,
"cds_start": 4054,
"cds_end": null,
"cds_length": 4170,
"cdna_start": 4337,
"cdna_end": null,
"cdna_length": 4489,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971297.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.4036C>G",
"hgvs_p": "p.Leu1346Val",
"transcript": "ENST00000853336.1",
"protein_id": "ENSP00000523395.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1383,
"cds_start": 4036,
"cds_end": null,
"cds_length": 4152,
"cdna_start": 4143,
"cdna_end": null,
"cdna_length": 6091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853336.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.3847C>G",
"hgvs_p": "p.Leu1283Val",
"transcript": "NM_001135820.2",
"protein_id": "NP_001129292.1",
"transcript_support_level": null,
"aa_start": 1283,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3847,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 4016,
"cdna_end": null,
"cdna_length": 5963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135820.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.3847C>G",
"hgvs_p": "p.Leu1283Val",
"transcript": "ENST00000911423.1",
"protein_id": "ENSP00000581482.1",
"transcript_support_level": null,
"aa_start": 1283,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3847,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 3984,
"cdna_end": null,
"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911423.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.3094C>G",
"hgvs_p": "p.Leu1032Val",
"transcript": "ENST00000853337.1",
"protein_id": "ENSP00000523396.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1069,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 3263,
"cdna_end": null,
"cdna_length": 5210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853337.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.2122C>G",
"hgvs_p": "p.Leu708Val",
"transcript": "NM_001349784.2",
"protein_id": "NP_001336713.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 745,
"cds_start": 2122,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 4171,
"cdna_end": null,
"cdna_length": 6118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349784.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.1015C>G",
"hgvs_p": "p.Leu339Val",
"transcript": "ENST00000396272.7",
"protein_id": "ENSP00000379569.3",
"transcript_support_level": 2,
"aa_start": 339,
"aa_end": null,
"aa_length": 376,
"cds_start": 1015,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396272.7"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.4036C>G",
"hgvs_p": "p.Leu1346Val",
"transcript": "XM_005251869.5",
"protein_id": "XP_005251926.1",
"transcript_support_level": null,
"aa_start": 1346,
"aa_end": null,
"aa_length": 1383,
"cds_start": 4036,
"cds_end": null,
"cds_length": 4152,
"cdna_start": 4143,
"cdna_end": null,
"cdna_length": 6090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251869.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.3847C>G",
"hgvs_p": "p.Leu1283Val",
"transcript": "XM_047423136.1",
"protein_id": "XP_047279092.1",
"transcript_support_level": null,
"aa_start": 1283,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3847,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 3954,
"cdna_end": null,
"cdna_length": 5901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423136.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "c.3397C>G",
"hgvs_p": "p.Leu1133Val",
"transcript": "XM_047423137.1",
"protein_id": "XP_047279093.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1170,
"cds_start": 3397,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 4003,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423137.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"hgvs_c": "n.696C>G",
"hgvs_p": null,
"transcript": "ENST00000377057.5",
"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": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000377057.5"
}
],
"gene_symbol": "CEMIP2",
"gene_hgnc_id": 11869,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4897218346595764,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.1127,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.501,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013390.3",
"gene_symbol": "CEMIP2",
"hgnc_id": 11869,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4036C>G",
"hgvs_p": "p.Leu1346Val"
}
],
"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
}