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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: 10-92894995-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=92894995&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 92894995,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001319194.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.387A>G",
"hgvs_p": "p.Val129Val",
"transcript": "NM_019053.6",
"protein_id": "NP_061926.3",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 804,
"cds_start": 387,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000260762.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019053.6"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.387A>G",
"hgvs_p": "p.Val129Val",
"transcript": "ENST00000260762.10",
"protein_id": "ENSP00000260762.6",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 804,
"cds_start": 387,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019053.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260762.10"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.387A>G",
"hgvs_p": "p.Val129Val",
"transcript": "ENST00000443748.6",
"protein_id": "ENSP00000396206.2",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 701,
"cds_start": 387,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443748.6"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.435A>G",
"hgvs_p": "p.Val145Val",
"transcript": "NM_001319194.2",
"protein_id": "NP_001306123.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 820,
"cds_start": 435,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319194.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.387A>G",
"hgvs_p": "p.Val129Val",
"transcript": "NM_001319195.2",
"protein_id": "NP_001306124.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 803,
"cds_start": 387,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319195.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.372A>G",
"hgvs_p": "p.Val124Val",
"transcript": "NM_001013848.4",
"protein_id": "NP_001013870.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 799,
"cds_start": 372,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001013848.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.372A>G",
"hgvs_p": "p.Val124Val",
"transcript": "ENST00000371552.8",
"protein_id": "ENSP00000360607.4",
"transcript_support_level": 5,
"aa_start": 124,
"aa_end": null,
"aa_length": 799,
"cds_start": 372,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371552.8"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.372A>G",
"hgvs_p": "p.Val124Val",
"transcript": "ENST00000671701.1",
"protein_id": "ENSP00000500529.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 799,
"cds_start": 372,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671701.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.372A>G",
"hgvs_p": "p.Val124Val",
"transcript": "ENST00000672817.1",
"protein_id": "ENSP00000500468.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 799,
"cds_start": 372,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672817.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.387A>G",
"hgvs_p": "p.Val129Val",
"transcript": "NM_001319200.2",
"protein_id": "NP_001306129.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 701,
"cds_start": 387,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319200.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.387A>G",
"hgvs_p": "p.Val129Val",
"transcript": "ENST00000371543.5",
"protein_id": "ENSP00000360598.1",
"transcript_support_level": 2,
"aa_start": 129,
"aa_end": null,
"aa_length": 153,
"cds_start": 387,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371543.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.435A>G",
"hgvs_p": "p.Val145Val",
"transcript": "XM_017016344.3",
"protein_id": "XP_016871833.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 819,
"cds_start": 435,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016344.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.372A>G",
"hgvs_p": "p.Val124Val",
"transcript": "XM_017016345.3",
"protein_id": "XP_016871834.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 799,
"cds_start": 372,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016345.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.372A>G",
"hgvs_p": "p.Val124Val",
"transcript": "XM_017016346.3",
"protein_id": "XP_016871835.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 798,
"cds_start": 372,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016346.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.324A>G",
"hgvs_p": "p.Val108Val",
"transcript": "XM_017016347.3",
"protein_id": "XP_016871836.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 783,
"cds_start": 324,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016347.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Val82Val",
"transcript": "XM_024448047.2",
"protein_id": "XP_024303815.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 757,
"cds_start": 246,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448047.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.435A>G",
"hgvs_p": "p.Val145Val",
"transcript": "XM_017016348.2",
"protein_id": "XP_016871837.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 756,
"cds_start": 435,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016348.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.435A>G",
"hgvs_p": "p.Val145Val",
"transcript": "XM_047425369.1",
"protein_id": "XP_047281325.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 755,
"cds_start": 435,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425369.1"
}
],
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"dbsnp": "rs374973254",
"frequency_reference_population": 0.00017505416,
"hom_count_reference_population": 1,
"allele_count_reference_population": 282,
"gnomad_exomes_af": 0.000157001,
"gnomad_genomes_af": 0.000347901,
"gnomad_exomes_ac": 229,
"gnomad_genomes_ac": 53,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.715,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_001319194.2",
"gene_symbol": "EXOC6",
"hgnc_id": 23196,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.435A>G",
"hgvs_p": "p.Val145Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}