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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: 8-21999614-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=21999614&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 21999614,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001100161.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO7",
"gene_hgnc_id": 14108,
"hgvs_c": "c.2722C>G",
"hgvs_p": "p.Leu908Val",
"transcript": "NM_015024.5",
"protein_id": "NP_055839.3",
"transcript_support_level": null,
"aa_start": 908,
"aa_end": null,
"aa_length": 1087,
"cds_start": 2722,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000252512.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015024.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO7",
"gene_hgnc_id": 14108,
"hgvs_c": "c.2722C>G",
"hgvs_p": "p.Leu908Val",
"transcript": "ENST00000252512.14",
"protein_id": "ENSP00000252512.9",
"transcript_support_level": 1,
"aa_start": 908,
"aa_end": null,
"aa_length": 1087,
"cds_start": 2722,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015024.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252512.14"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO7",
"gene_hgnc_id": 14108,
"hgvs_c": "c.2749C>G",
"hgvs_p": "p.Leu917Val",
"transcript": "NM_001100161.2",
"protein_id": "NP_001093631.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1096,
"cds_start": 2749,
"cds_end": null,
"cds_length": 3291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100161.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO7",
"gene_hgnc_id": 14108,
"hgvs_c": "c.2725C>G",
"hgvs_p": "p.Leu909Val",
"transcript": "ENST00000433566.8",
"protein_id": "ENSP00000410249.3",
"transcript_support_level": 5,
"aa_start": 909,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2725,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433566.8"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO7",
"gene_hgnc_id": 14108,
"hgvs_c": "c.2701C>G",
"hgvs_p": "p.Leu901Val",
"transcript": "ENST00000879832.1",
"protein_id": "ENSP00000549891.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 1080,
"cds_start": 2701,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879832.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO7",
"gene_hgnc_id": 14108,
"hgvs_c": "c.2656C>G",
"hgvs_p": "p.Leu886Val",
"transcript": "NM_001362802.2",
"protein_id": "NP_001349731.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1065,
"cds_start": 2656,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362802.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO7",
"gene_hgnc_id": 14108,
"hgvs_c": "c.2656C>G",
"hgvs_p": "p.Leu886Val",
"transcript": "ENST00000879830.1",
"protein_id": "ENSP00000549889.1",
"transcript_support_level": null,
"aa_start": 886,
"aa_end": null,
"aa_length": 1065,
"cds_start": 2656,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879830.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO7",
"gene_hgnc_id": 14108,
"hgvs_c": "c.2647C>G",
"hgvs_p": "p.Leu883Val",
"transcript": "ENST00000879831.1",
"protein_id": "ENSP00000549890.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1062,
"cds_start": 2647,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879831.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO7",
"gene_hgnc_id": 14108,
"hgvs_c": "c.2575C>G",
"hgvs_p": "p.Leu859Val",
"transcript": "ENST00000879833.1",
"protein_id": "ENSP00000549892.1",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 1038,
"cds_start": 2575,
"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": "ENST00000879833.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO7",
"gene_hgnc_id": 14108,
"hgvs_c": "c.2416C>G",
"hgvs_p": "p.Leu806Val",
"transcript": "ENST00000929054.1",
"protein_id": "ENSP00000599113.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 985,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929054.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO7",
"gene_hgnc_id": 14108,
"hgvs_c": "c.652C>G",
"hgvs_p": "p.Leu218Val",
"transcript": "ENST00000517551.2",
"protein_id": "ENSP00000429317.2",
"transcript_support_level": 5,
"aa_start": 218,
"aa_end": null,
"aa_length": 236,
"cds_start": 652,
"cds_end": null,
"cds_length": 712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517551.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO7",
"gene_hgnc_id": 14108,
"hgvs_c": "n.2942C>G",
"hgvs_p": null,
"transcript": "NR_156173.2",
"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": "NR_156173.2"
}
],
"gene_symbol": "XPO7",
"gene_hgnc_id": 14108,
"dbsnp": "rs1369024827",
"frequency_reference_population": 0.000013144232,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000131442,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7439883351325989,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.703,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2062,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.757,
"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": 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_001100161.2",
"gene_symbol": "XPO7",
"hgnc_id": 14108,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2749C>G",
"hgvs_p": "p.Leu917Val"
}
],
"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
}