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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: 12-30630952-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=30630952&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 30630952,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006390.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"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": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3022A>G",
"hgvs_p": "p.Lys1008Glu",
"transcript": "NM_006390.4",
"protein_id": "NP_006381.2",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1037,
"cds_start": 3022,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000256079.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006390.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"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": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3022A>G",
"hgvs_p": "p.Lys1008Glu",
"transcript": "ENST00000256079.9",
"protein_id": "ENSP00000256079.4",
"transcript_support_level": 1,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1037,
"cds_start": 3022,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006390.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256079.9"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3118A>G",
"hgvs_p": "p.Lys1040Glu",
"transcript": "ENST00000910950.1",
"protein_id": "ENSP00000581009.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1069,
"cds_start": 3118,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910950.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3115A>G",
"hgvs_p": "p.Lys1039Glu",
"transcript": "ENST00000910953.1",
"protein_id": "ENSP00000581012.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1068,
"cds_start": 3115,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910953.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3070A>G",
"hgvs_p": "p.Lys1024Glu",
"transcript": "ENST00000936164.1",
"protein_id": "ENSP00000606223.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1053,
"cds_start": 3070,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936164.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3019A>G",
"hgvs_p": "p.Lys1007Glu",
"transcript": "ENST00000910949.1",
"protein_id": "ENSP00000581008.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1036,
"cds_start": 3019,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910949.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.3013A>G",
"hgvs_p": "p.Lys1005Glu",
"transcript": "ENST00000936167.1",
"protein_id": "ENSP00000606226.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1034,
"cds_start": 3013,
"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": "ENST00000936167.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2938A>G",
"hgvs_p": "p.Lys980Glu",
"transcript": "ENST00000910951.1",
"protein_id": "ENSP00000581010.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910951.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2887A>G",
"hgvs_p": "p.Lys963Glu",
"transcript": "ENST00000936165.1",
"protein_id": "ENSP00000606224.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 992,
"cds_start": 2887,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936165.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2863A>G",
"hgvs_p": "p.Lys955Glu",
"transcript": "ENST00000910952.1",
"protein_id": "ENSP00000581011.1",
"transcript_support_level": null,
"aa_start": 955,
"aa_end": null,
"aa_length": 984,
"cds_start": 2863,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910952.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2842A>G",
"hgvs_p": "p.Lys948Glu",
"transcript": "ENST00000910956.1",
"protein_id": "ENSP00000581015.1",
"transcript_support_level": null,
"aa_start": 948,
"aa_end": null,
"aa_length": 977,
"cds_start": 2842,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910956.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2818A>G",
"hgvs_p": "p.Lys940Glu",
"transcript": "ENST00000910954.1",
"protein_id": "ENSP00000581013.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 969,
"cds_start": 2818,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910954.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2779A>G",
"hgvs_p": "p.Lys927Glu",
"transcript": "ENST00000910955.1",
"protein_id": "ENSP00000581014.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 956,
"cds_start": 2779,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910955.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2407A>G",
"hgvs_p": "p.Lys803Glu",
"transcript": "NM_001190995.2",
"protein_id": "NP_001177924.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 832,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190995.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2407A>G",
"hgvs_p": "p.Lys803Glu",
"transcript": "ENST00000544829.5",
"protein_id": "ENSP00000444520.1",
"transcript_support_level": 2,
"aa_start": 803,
"aa_end": null,
"aa_length": 832,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544829.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.1168A>G",
"hgvs_p": "p.Lys390Glu",
"transcript": "ENST00000936166.1",
"protein_id": "ENSP00000606225.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 419,
"cds_start": 1168,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936166.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2971A>G",
"hgvs_p": "p.Lys991Glu",
"transcript": "XM_017018691.3",
"protein_id": "XP_016874180.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2971,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018691.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "IPO8",
"gene_hgnc_id": 9853,
"hgvs_c": "c.2836A>G",
"hgvs_p": "p.Lys946Glu",
"transcript": "XM_017018692.2",
"protein_id": "XP_016874181.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 975,
"cds_start": 2836,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017018692.2"
}
],
"gene_symbol": "IPO8",
"gene_hgnc_id": 9853,
"dbsnp": "rs751097058",
"frequency_reference_population": 0.000006163632,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000616363,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22788357734680176,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.2800000011920929,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.156,
"revel_prediction": "Benign",
"alphamissense_score": 0.1228,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.803,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.28,
"spliceai_max_prediction": "Uncertain_significance",
"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_006390.4",
"gene_symbol": "IPO8",
"hgnc_id": 9853,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3022A>G",
"hgvs_p": "p.Lys1008Glu"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}