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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: 4-88664211-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=88664211&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 88664211,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_014606.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC3",
"gene_hgnc_id": 4876,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Lys444Glu",
"transcript": "NM_014606.3",
"protein_id": "NP_055421.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1050,
"cds_start": 1330,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000402738.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014606.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC3",
"gene_hgnc_id": 4876,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Lys444Glu",
"transcript": "ENST00000402738.6",
"protein_id": "ENSP00000385684.1",
"transcript_support_level": 1,
"aa_start": 444,
"aa_end": null,
"aa_length": 1050,
"cds_start": 1330,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014606.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402738.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC3",
"gene_hgnc_id": 4876,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Lys444Glu",
"transcript": "ENST00000512194.2",
"protein_id": "ENSP00000421021.2",
"transcript_support_level": 5,
"aa_start": 444,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1330,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512194.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC3",
"gene_hgnc_id": 4876,
"hgvs_c": "c.1333A>G",
"hgvs_p": "p.Lys445Glu",
"transcript": "ENST00000950980.1",
"protein_id": "ENSP00000621039.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 1051,
"cds_start": 1333,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950980.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC3",
"gene_hgnc_id": 4876,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Lys444Glu",
"transcript": "ENST00000950982.1",
"protein_id": "ENSP00000621041.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1050,
"cds_start": 1330,
"cds_end": null,
"cds_length": 3153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950982.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC3",
"gene_hgnc_id": 4876,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Lys444Glu",
"transcript": "NM_001375480.1",
"protein_id": "NP_001362409.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1049,
"cds_start": 1330,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375480.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC3",
"gene_hgnc_id": 4876,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Lys444Glu",
"transcript": "NM_001375478.1",
"protein_id": "NP_001362407.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1330,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375478.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC3",
"gene_hgnc_id": 4876,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Lys444Glu",
"transcript": "NM_001375479.1",
"protein_id": "NP_001362408.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1330,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375479.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC3",
"gene_hgnc_id": 4876,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Lys444Glu",
"transcript": "NM_001375482.1",
"protein_id": "NP_001362411.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1330,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375482.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC3",
"gene_hgnc_id": 4876,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Lys444Glu",
"transcript": "NM_001375483.1",
"protein_id": "NP_001362412.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1330,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375483.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC3",
"gene_hgnc_id": 4876,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Lys444Glu",
"transcript": "ENST00000950981.1",
"protein_id": "ENSP00000621040.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1330,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950981.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC3",
"gene_hgnc_id": 4876,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Lys444Glu",
"transcript": "ENST00000950979.1",
"protein_id": "ENSP00000621038.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1330,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950979.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC3",
"gene_hgnc_id": 4876,
"hgvs_c": "c.1168A>G",
"hgvs_p": "p.Lys390Glu",
"transcript": "ENST00000950977.1",
"protein_id": "ENSP00000621036.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 996,
"cds_start": 1168,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950977.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC3",
"gene_hgnc_id": 4876,
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Lys444Glu",
"transcript": "ENST00000950978.1",
"protein_id": "ENSP00000621037.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 993,
"cds_start": 1330,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950978.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC3",
"gene_hgnc_id": 4876,
"hgvs_c": "c.1168A>G",
"hgvs_p": "p.Lys390Glu",
"transcript": "ENST00000882751.1",
"protein_id": "ENSP00000552810.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 988,
"cds_start": 1168,
"cds_end": null,
"cds_length": 2967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882751.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC3",
"gene_hgnc_id": 4876,
"hgvs_c": "c.976A>G",
"hgvs_p": "p.Lys326Glu",
"transcript": "NM_001271602.2",
"protein_id": "NP_001258531.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 932,
"cds_start": 976,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271602.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC3",
"gene_hgnc_id": 4876,
"hgvs_c": "c.976A>G",
"hgvs_p": "p.Lys326Glu",
"transcript": "NM_001375477.1",
"protein_id": "NP_001362406.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 924,
"cds_start": 976,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375477.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC3",
"gene_hgnc_id": 4876,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Lys272Glu",
"transcript": "NM_001375481.1",
"protein_id": "NP_001362410.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 870,
"cds_start": 814,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375481.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HERC3",
"gene_hgnc_id": 4876,
"hgvs_c": "n.225-3166A>G",
"hgvs_p": null,
"transcript": "ENST00000470815.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000470815.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000301484",
"gene_hgnc_id": null,
"hgvs_c": "n.179+223T>C",
"hgvs_p": null,
"transcript": "ENST00000779169.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000779169.1"
}
],
"gene_symbol": "HERC3",
"gene_hgnc_id": 4876,
"dbsnp": "rs755334634",
"frequency_reference_population": 0.000011640854,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.0000116409,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0797627866268158,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.8999999761581421,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.103,
"revel_prediction": "Benign",
"alphamissense_score": 0.134,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.405,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.16,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.983428346216082,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014606.3",
"gene_symbol": "HERC3",
"hgnc_id": 4876,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1330A>G",
"hgvs_p": "p.Lys444Glu"
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000779169.1",
"gene_symbol": "ENSG00000301484",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.179+223T>C",
"hgvs_p": null
}
],
"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
}