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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: 10-92920004-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=92920004&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 92920004,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001319194.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.842T>A",
"hgvs_p": "p.Val281Asp",
"transcript": "NM_019053.6",
"protein_id": "NP_061926.3",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 804,
"cds_start": 842,
"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": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.842T>A",
"hgvs_p": "p.Val281Asp",
"transcript": "ENST00000260762.10",
"protein_id": "ENSP00000260762.6",
"transcript_support_level": 1,
"aa_start": 281,
"aa_end": null,
"aa_length": 804,
"cds_start": 842,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.819+4091T>A",
"hgvs_p": null,
"transcript": "ENST00000443748.6",
"protein_id": "ENSP00000396206.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 701,
"cds_start": null,
"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": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.890T>A",
"hgvs_p": "p.Val297Asp",
"transcript": "NM_001319194.2",
"protein_id": "NP_001306123.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 820,
"cds_start": 890,
"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": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.842T>A",
"hgvs_p": "p.Val281Asp",
"transcript": "NM_001319195.2",
"protein_id": "NP_001306124.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 803,
"cds_start": 842,
"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": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.827T>A",
"hgvs_p": "p.Val276Asp",
"transcript": "NM_001013848.4",
"protein_id": "NP_001013870.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 799,
"cds_start": 827,
"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": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.827T>A",
"hgvs_p": "p.Val276Asp",
"transcript": "ENST00000371552.8",
"protein_id": "ENSP00000360607.4",
"transcript_support_level": 5,
"aa_start": 276,
"aa_end": null,
"aa_length": 799,
"cds_start": 827,
"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": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.827T>A",
"hgvs_p": "p.Val276Asp",
"transcript": "ENST00000671701.1",
"protein_id": "ENSP00000500529.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 799,
"cds_start": 827,
"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": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.827T>A",
"hgvs_p": "p.Val276Asp",
"transcript": "ENST00000672817.1",
"protein_id": "ENSP00000500468.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 799,
"cds_start": 827,
"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": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.890T>A",
"hgvs_p": "p.Val297Asp",
"transcript": "XM_017016344.3",
"protein_id": "XP_016871833.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 819,
"cds_start": 890,
"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": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.827T>A",
"hgvs_p": "p.Val276Asp",
"transcript": "XM_017016345.3",
"protein_id": "XP_016871834.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 799,
"cds_start": 827,
"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": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.827T>A",
"hgvs_p": "p.Val276Asp",
"transcript": "XM_017016346.3",
"protein_id": "XP_016871835.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 798,
"cds_start": 827,
"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": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.779T>A",
"hgvs_p": "p.Val260Asp",
"transcript": "XM_017016347.3",
"protein_id": "XP_016871836.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 783,
"cds_start": 779,
"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": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.701T>A",
"hgvs_p": "p.Val234Asp",
"transcript": "XM_024448047.2",
"protein_id": "XP_024303815.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 757,
"cds_start": 701,
"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": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.890T>A",
"hgvs_p": "p.Val297Asp",
"transcript": "XM_017016348.2",
"protein_id": "XP_016871837.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 756,
"cds_start": 890,
"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": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.890T>A",
"hgvs_p": "p.Val297Asp",
"transcript": "XM_047425369.1",
"protein_id": "XP_047281325.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 755,
"cds_start": 890,
"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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"hgvs_c": "c.819+4091T>A",
"hgvs_p": null,
"transcript": "NM_001319200.2",
"protein_id": "NP_001306129.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 701,
"cds_start": null,
"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"
}
],
"gene_symbol": "EXOC6",
"gene_hgnc_id": 23196,
"dbsnp": "rs1851338799",
"frequency_reference_population": 0.0000041236376,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000412364,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9000348448753357,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.631,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9964,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.237,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001319194.2",
"gene_symbol": "EXOC6",
"hgnc_id": 23196,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.890T>A",
"hgvs_p": "p.Val297Asp"
}
],
"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
}