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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: 7-1470858-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=1470858&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 1470858,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001080453.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS1",
"gene_hgnc_id": 24555,
"hgvs_c": "c.6445C>G",
"hgvs_p": "p.Leu2149Val",
"transcript": "NM_001080453.3",
"protein_id": "NP_001073922.2",
"transcript_support_level": null,
"aa_start": 2149,
"aa_end": null,
"aa_length": 2190,
"cds_start": 6445,
"cds_end": null,
"cds_length": 6573,
"cdna_start": 6553,
"cdna_end": null,
"cdna_length": 6981,
"mane_select": "ENST00000404767.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080453.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS1",
"gene_hgnc_id": 24555,
"hgvs_c": "c.6445C>G",
"hgvs_p": "p.Leu2149Val",
"transcript": "ENST00000404767.8",
"protein_id": "ENSP00000385722.3",
"transcript_support_level": 5,
"aa_start": 2149,
"aa_end": null,
"aa_length": 2190,
"cds_start": 6445,
"cds_end": null,
"cds_length": 6573,
"cdna_start": 6553,
"cdna_end": null,
"cdna_length": 6981,
"mane_select": "NM_001080453.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404767.8"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS1",
"gene_hgnc_id": 24555,
"hgvs_c": "c.6688C>G",
"hgvs_p": "p.Leu2230Val",
"transcript": "ENST00000951930.1",
"protein_id": "ENSP00000621989.1",
"transcript_support_level": null,
"aa_start": 2230,
"aa_end": null,
"aa_length": 2271,
"cds_start": 6688,
"cds_end": null,
"cds_length": 6816,
"cdna_start": 6768,
"cdna_end": null,
"cdna_length": 7195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951930.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS1",
"gene_hgnc_id": 24555,
"hgvs_c": "c.6532C>G",
"hgvs_p": "p.Leu2178Val",
"transcript": "ENST00000916004.1",
"protein_id": "ENSP00000586063.1",
"transcript_support_level": null,
"aa_start": 2178,
"aa_end": null,
"aa_length": 2219,
"cds_start": 6532,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 6604,
"cdna_end": null,
"cdna_length": 7033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916004.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS1",
"gene_hgnc_id": 24555,
"hgvs_c": "c.6481C>G",
"hgvs_p": "p.Leu2161Val",
"transcript": "ENST00000916001.1",
"protein_id": "ENSP00000586060.1",
"transcript_support_level": null,
"aa_start": 2161,
"aa_end": null,
"aa_length": 2202,
"cds_start": 6481,
"cds_end": null,
"cds_length": 6609,
"cdna_start": 6604,
"cdna_end": null,
"cdna_length": 7032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916001.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS1",
"gene_hgnc_id": 24555,
"hgvs_c": "c.6445C>G",
"hgvs_p": "p.Leu2149Val",
"transcript": "ENST00000916003.1",
"protein_id": "ENSP00000586062.1",
"transcript_support_level": null,
"aa_start": 2149,
"aa_end": null,
"aa_length": 2190,
"cds_start": 6445,
"cds_end": null,
"cds_length": 6573,
"cdna_start": 6845,
"cdna_end": null,
"cdna_length": 7273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916003.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS1",
"gene_hgnc_id": 24555,
"hgvs_c": "c.6442C>G",
"hgvs_p": "p.Leu2148Val",
"transcript": "ENST00000859088.1",
"protein_id": "ENSP00000529147.1",
"transcript_support_level": null,
"aa_start": 2148,
"aa_end": null,
"aa_length": 2189,
"cds_start": 6442,
"cds_end": null,
"cds_length": 6570,
"cdna_start": 6522,
"cdna_end": null,
"cdna_length": 6950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859088.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS1",
"gene_hgnc_id": 24555,
"hgvs_c": "c.6433C>G",
"hgvs_p": "p.Leu2145Val",
"transcript": "ENST00000859087.1",
"protein_id": "ENSP00000529146.1",
"transcript_support_level": null,
"aa_start": 2145,
"aa_end": null,
"aa_length": 2186,
"cds_start": 6433,
"cds_end": null,
"cds_length": 6561,
"cdna_start": 6535,
"cdna_end": null,
"cdna_length": 6963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859087.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS1",
"gene_hgnc_id": 24555,
"hgvs_c": "c.6322C>G",
"hgvs_p": "p.Leu2108Val",
"transcript": "ENST00000951928.1",
"protein_id": "ENSP00000621987.1",
"transcript_support_level": null,
"aa_start": 2108,
"aa_end": null,
"aa_length": 2149,
"cds_start": 6322,
"cds_end": null,
"cds_length": 6450,
"cdna_start": 6459,
"cdna_end": null,
"cdna_length": 6887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951928.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS1",
"gene_hgnc_id": 24555,
"hgvs_c": "c.6277C>G",
"hgvs_p": "p.Leu2093Val",
"transcript": "ENST00000916002.1",
"protein_id": "ENSP00000586061.1",
"transcript_support_level": null,
"aa_start": 2093,
"aa_end": null,
"aa_length": 2134,
"cds_start": 6277,
"cds_end": null,
"cds_length": 6405,
"cdna_start": 6357,
"cdna_end": null,
"cdna_length": 6785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916002.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS1",
"gene_hgnc_id": 24555,
"hgvs_c": "c.6277C>G",
"hgvs_p": "p.Leu2093Val",
"transcript": "ENST00000951929.1",
"protein_id": "ENSP00000621988.1",
"transcript_support_level": null,
"aa_start": 2093,
"aa_end": null,
"aa_length": 2134,
"cds_start": 6277,
"cds_end": null,
"cds_length": 6405,
"cdna_start": 6358,
"cdna_end": null,
"cdna_length": 6786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951929.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS1",
"gene_hgnc_id": 24555,
"hgvs_c": "c.6475C>G",
"hgvs_p": "p.Leu2159Val",
"transcript": "XM_011515260.2",
"protein_id": "XP_011513562.1",
"transcript_support_level": null,
"aa_start": 2159,
"aa_end": null,
"aa_length": 2200,
"cds_start": 6475,
"cds_end": null,
"cds_length": 6603,
"cdna_start": 6583,
"cdna_end": null,
"cdna_length": 7011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515260.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS1",
"gene_hgnc_id": 24555,
"hgvs_c": "n.429C>G",
"hgvs_p": null,
"transcript": "ENST00000493446.1",
"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": 675,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000493446.1"
}
],
"gene_symbol": "INTS1",
"gene_hgnc_id": 24555,
"dbsnp": "rs920564883",
"frequency_reference_population": 0.0000062567697,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000625677,
"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": 0.479378879070282,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.242,
"revel_prediction": "Benign",
"alphamissense_score": 0.1504,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.846,
"phylop100way_prediction": "Pathogenic",
"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_001080453.3",
"gene_symbol": "INTS1",
"hgnc_id": 24555,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6445C>G",
"hgvs_p": "p.Leu2149Val"
}
],
"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
}