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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: 15-42566679-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42566679&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 42566679,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018097.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"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": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Arg191Cys",
"transcript": "NM_018097.3",
"protein_id": "NP_060567.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 235,
"cds_start": 571,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000260372.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018097.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"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": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Arg191Cys",
"transcript": "ENST00000260372.8",
"protein_id": "ENSP00000260372.3",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 235,
"cds_start": 571,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018097.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260372.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "c.568C>T",
"hgvs_p": "p.Arg190Cys",
"transcript": "ENST00000970518.1",
"protein_id": "ENSP00000640577.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 234,
"cds_start": 568,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970518.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Cys",
"transcript": "ENST00000935098.1",
"protein_id": "ENSP00000605157.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 232,
"cds_start": 562,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935098.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"transcript": "ENST00000935099.1",
"protein_id": "ENSP00000605158.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 210,
"cds_start": 496,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935099.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Cys",
"transcript": "NM_001130447.2",
"protein_id": "NP_001123919.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 204,
"cds_start": 478,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130447.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "c.478C>T",
"hgvs_p": "p.Arg160Cys",
"transcript": "ENST00000568876.5",
"protein_id": "ENSP00000456578.1",
"transcript_support_level": 4,
"aa_start": 160,
"aa_end": null,
"aa_length": 204,
"cds_start": 478,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568876.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97Cys",
"transcript": "NM_001323631.2",
"protein_id": "NP_001310560.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 141,
"cds_start": 289,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323631.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97Cys",
"transcript": "NM_001323632.2",
"protein_id": "NP_001310561.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 141,
"cds_start": 289,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323632.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Arg87Cys",
"transcript": "ENST00000935100.1",
"protein_id": "ENSP00000605159.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 131,
"cds_start": 259,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935100.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "c.178C>T",
"hgvs_p": "p.Arg60Cys",
"transcript": "NM_001323630.2",
"protein_id": "NP_001310559.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 104,
"cds_start": 178,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323630.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"transcript": "ENST00000935101.1",
"protein_id": "ENSP00000605160.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 100,
"cds_start": 166,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935101.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"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": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "c.289C>T",
"hgvs_p": "p.Arg97Cys",
"transcript": "XM_017022397.2",
"protein_id": "XP_016877886.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 141,
"cds_start": 289,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022397.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "n.*285C>T",
"hgvs_p": null,
"transcript": "ENST00000391623.8",
"protein_id": "ENSP00000390445.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000391623.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "n.*285C>T",
"hgvs_p": null,
"transcript": "ENST00000563479.5",
"protein_id": "ENSP00000456054.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000563479.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "n.*150C>T",
"hgvs_p": null,
"transcript": "ENST00000570178.1",
"protein_id": "ENSP00000455118.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000570178.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "n.*285C>T",
"hgvs_p": null,
"transcript": "ENST00000391623.8",
"protein_id": "ENSP00000390445.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000391623.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "n.*285C>T",
"hgvs_p": null,
"transcript": "ENST00000563479.5",
"protein_id": "ENSP00000456054.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000563479.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "n.*150C>T",
"hgvs_p": null,
"transcript": "ENST00000570178.1",
"protein_id": "ENSP00000455118.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000570178.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "n.*285C>T",
"hgvs_p": null,
"transcript": "ENST00000564279.5",
"protein_id": "ENSP00000455104.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000564279.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HAUS2",
"gene_hgnc_id": 25530,
"hgvs_c": "n.*398C>T",
"hgvs_p": null,
"transcript": "ENST00000567640.5",
"protein_id": "ENSP00000457169.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000567640.5"
}
],
"gene_symbol": "HAUS2",
"gene_hgnc_id": 25530,
"dbsnp": "rs756377743",
"frequency_reference_population": 0.000024331355,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000248146,
"gnomad_genomes_af": 0.0000197226,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5032275915145874,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.539,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2005,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.124,
"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_018097.3",
"gene_symbol": "HAUS2",
"hgnc_id": 25530,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.571C>T",
"hgvs_p": "p.Arg191Cys"
}
],
"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
}