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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: 4-88398144-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=88398144&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 88398144,
"ref": "T",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_017912.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val",
"transcript": "NM_017912.4",
"protein_id": "NP_060382.3",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 1022,
"cds_start": 1027,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264346.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017912.4"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val",
"transcript": "ENST00000264346.12",
"protein_id": "ENSP00000264346.8",
"transcript_support_level": 1,
"aa_start": 343,
"aa_end": null,
"aa_length": 1022,
"cds_start": 1027,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017912.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264346.12"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val",
"transcript": "ENST00000380265.9",
"protein_id": "ENSP00000369617.5",
"transcript_support_level": 1,
"aa_start": 343,
"aa_end": null,
"aa_length": 986,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380265.9"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val",
"transcript": "ENST00000896956.1",
"protein_id": "ENSP00000567015.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 1038,
"cds_start": 1027,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896956.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val",
"transcript": "ENST00000896954.1",
"protein_id": "ENSP00000567013.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 1035,
"cds_start": 1027,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896954.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.1030T>G",
"hgvs_p": "p.Phe344Val",
"transcript": "ENST00000955919.1",
"protein_id": "ENSP00000625978.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 1023,
"cds_start": 1030,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955919.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val",
"transcript": "ENST00000955920.1",
"protein_id": "ENSP00000625979.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 1021,
"cds_start": 1027,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955920.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val",
"transcript": "NM_001165136.2",
"protein_id": "NP_001158608.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 986,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165136.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.790T>G",
"hgvs_p": "p.Phe264Val",
"transcript": "ENST00000896955.1",
"protein_id": "ENSP00000567014.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 943,
"cds_start": 790,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896955.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val",
"transcript": "ENST00000896957.1",
"protein_id": "ENSP00000567016.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 930,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896957.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.1063T>G",
"hgvs_p": "p.Phe355Val",
"transcript": "XM_005263083.5",
"protein_id": "XP_005263140.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 1034,
"cds_start": 1063,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263083.5"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.1063T>G",
"hgvs_p": "p.Phe355Val",
"transcript": "XM_011532053.4",
"protein_id": "XP_011530355.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 998,
"cds_start": 1063,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532053.4"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.1063T>G",
"hgvs_p": "p.Phe355Val",
"transcript": "XM_047415867.1",
"protein_id": "XP_047271823.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 535,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415867.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "n.855T>G",
"hgvs_p": null,
"transcript": "ENST00000506714.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000506714.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "n.423T>G",
"hgvs_p": null,
"transcript": "ENST00000515365.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000515365.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"hgvs_c": "c.-76T>G",
"hgvs_p": null,
"transcript": "XM_047415866.1",
"protein_id": "XP_047271822.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 614,
"cds_start": null,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415866.1"
}
],
"gene_symbol": "HERC6",
"gene_hgnc_id": 26072,
"dbsnp": "rs17014118",
"frequency_reference_population": 0.000022114584,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000230666,
"gnomad_genomes_af": 0.0000131558,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0828530490398407,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.068,
"revel_prediction": "Benign",
"alphamissense_score": 0.057,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.33,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_017912.4",
"gene_symbol": "HERC6",
"hgnc_id": 26072,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1027T>G",
"hgvs_p": "p.Phe343Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}