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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: 9-27029104-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=27029104&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3_Strong"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "IFT74",
"hgnc_id": 21424,
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Gly352Ser",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_025103.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong",
"acmg_score": 8,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1825,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1253279447555542,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 600,
"aa_ref": "G",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5325,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1054,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_025103.4",
"gene_hgnc_id": 21424,
"gene_symbol": "IFT74",
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Gly352Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380062.10",
"protein_coding": true,
"protein_id": "NP_079379.2",
"strand": true,
"transcript": "NM_025103.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 600,
"aa_ref": "G",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5325,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1054,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000380062.10",
"gene_hgnc_id": 21424,
"gene_symbol": "IFT74",
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Gly352Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025103.4",
"protein_coding": true,
"protein_id": "ENSP00000369402.5",
"strand": true,
"transcript": "ENST00000380062.10",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 372,
"aa_ref": "D",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1462,
"cdna_start": 1111,
"cds_end": null,
"cds_length": 1119,
"cds_start": 1054,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000429045.6",
"gene_hgnc_id": 21424,
"gene_symbol": "IFT74",
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Asp352Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393907.2",
"strand": true,
"transcript": "ENST00000429045.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 606,
"aa_ref": "G",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2161,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 1821,
"cds_start": 1072,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000903173.1",
"gene_hgnc_id": 21424,
"gene_symbol": "IFT74",
"hgvs_c": "c.1072G>A",
"hgvs_p": "p.Gly358Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573232.1",
"strand": true,
"transcript": "ENST00000903173.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 600,
"aa_ref": "G",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5384,
"cdna_start": 1237,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1054,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001099222.3",
"gene_hgnc_id": 21424,
"gene_symbol": "IFT74",
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Gly352Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001092692.1",
"strand": true,
"transcript": "NM_001099222.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 600,
"aa_ref": "G",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5257,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1054,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001099223.3",
"gene_hgnc_id": 21424,
"gene_symbol": "IFT74",
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Gly352Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001092693.1",
"strand": true,
"transcript": "NM_001099223.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 600,
"aa_ref": "G",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2119,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1054,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000433700.5",
"gene_hgnc_id": 21424,
"gene_symbol": "IFT74",
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Gly352Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389224.1",
"strand": true,
"transcript": "ENST00000433700.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 600,
"aa_ref": "G",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2163,
"cdna_start": 1225,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1054,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000443698.5",
"gene_hgnc_id": 21424,
"gene_symbol": "IFT74",
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Gly352Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404122.1",
"strand": true,
"transcript": "ENST00000443698.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 561,
"aa_ref": "G",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5947,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1686,
"cds_start": 1054,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001349928.2",
"gene_hgnc_id": 21424,
"gene_symbol": "IFT74",
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Gly352Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336857.1",
"strand": true,
"transcript": "NM_001349928.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 372,
"aa_ref": "D",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1529,
"cdna_start": 1178,
"cds_end": null,
"cds_length": 1119,
"cds_start": 1054,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001099224.3",
"gene_hgnc_id": 21424,
"gene_symbol": "IFT74",
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Asp352Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001092694.1",
"strand": true,
"transcript": "NM_001099224.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 574,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000482986.1",
"gene_hgnc_id": 21424,
"gene_symbol": "IFT74",
"hgvs_c": "n.297G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000482986.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2432,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000648373.1",
"gene_hgnc_id": 21424,
"gene_symbol": "IFT74",
"hgvs_c": "n.*506G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497616.1",
"strand": true,
"transcript": "ENST00000648373.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2432,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000648373.1",
"gene_hgnc_id": 21424,
"gene_symbol": "IFT74",
"hgvs_c": "n.*506G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497616.1",
"strand": true,
"transcript": "ENST00000648373.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999933343753198,
"dbsnp": "rs759662469",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 21424,
"gene_symbol": "IFT74",
"gnomad_exomes_ac": 0,
"gnomad_exomes_af": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.989,
"pos": 27029104,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.138,
"splice_prediction_selected": "Pathogenic",
"splice_score_selected": 0.9879999756813049,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Pathogenic",
"spliceai_max_score": 0.8,
"transcript": "NM_025103.4"
}
]
}