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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: 1-201778996-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=201778996&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 201778996,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000685211.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NAV1",
"gene_hgnc_id": 15989,
"hgvs_c": "c.2088-1425G>C",
"hgvs_p": null,
"transcript": "NM_001389617.1",
"protein_id": "NP_001376546.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2164,
"cds_start": -4,
"cds_end": null,
"cds_length": 6495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13891,
"mane_select": "ENST00000685211.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NAV1",
"gene_hgnc_id": 15989,
"hgvs_c": "c.2088-1425G>C",
"hgvs_p": null,
"transcript": "ENST00000685211.1",
"protein_id": "ENSP00000510803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2164,
"cds_start": -4,
"cds_end": null,
"cds_length": 6495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13891,
"mane_select": "NM_001389617.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAV1",
"gene_hgnc_id": 15989,
"hgvs_c": "c.54-1425G>C",
"hgvs_p": null,
"transcript": "ENST00000367295.5",
"protein_id": "ENSP00000356264.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1483,
"cds_start": -4,
"cds_end": null,
"cds_length": 4452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NAV1",
"gene_hgnc_id": 15989,
"hgvs_c": "c.2088-1425G>C",
"hgvs_p": null,
"transcript": "NM_001389616.1",
"protein_id": "NP_001376545.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2107,
"cds_start": -4,
"cds_end": null,
"cds_length": 6324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "NAV1",
"gene_hgnc_id": 15989,
"hgvs_c": "c.2088-1425G>C",
"hgvs_p": null,
"transcript": "NM_001389615.1",
"protein_id": "NP_001376544.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2096,
"cds_start": -4,
"cds_end": null,
"cds_length": 6291,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NAV1",
"gene_hgnc_id": 15989,
"hgvs_c": "c.1227-1425G>C",
"hgvs_p": null,
"transcript": "NM_020443.5",
"protein_id": "NP_065176.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1877,
"cds_start": -4,
"cds_end": null,
"cds_length": 5634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NAV1",
"gene_hgnc_id": 15989,
"hgvs_c": "c.1227-1425G>C",
"hgvs_p": null,
"transcript": "ENST00000367296.8",
"protein_id": "ENSP00000356265.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1877,
"cds_start": -4,
"cds_end": null,
"cds_length": 5634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NAV1",
"gene_hgnc_id": 15989,
"hgvs_c": "c.1266-1425G>C",
"hgvs_p": null,
"transcript": "ENST00000367302.5",
"protein_id": "ENSP00000356271.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1830,
"cds_start": -4,
"cds_end": null,
"cds_length": 5493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAV1",
"gene_hgnc_id": 15989,
"hgvs_c": "c.54-1425G>C",
"hgvs_p": null,
"transcript": "NM_001389611.1",
"protein_id": "NP_001376540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1486,
"cds_start": -4,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAV1",
"gene_hgnc_id": 15989,
"hgvs_c": "c.54-1425G>C",
"hgvs_p": null,
"transcript": "NM_001167738.2",
"protein_id": "NP_001161210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1483,
"cds_start": -4,
"cds_end": null,
"cds_length": 4452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAV1",
"gene_hgnc_id": 15989,
"hgvs_c": "c.54-1425G>C",
"hgvs_p": null,
"transcript": "NM_001389612.1",
"protein_id": "NP_001376541.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1475,
"cds_start": -4,
"cds_end": null,
"cds_length": 4428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAV1",
"gene_hgnc_id": 15989,
"hgvs_c": "c.54-1425G>C",
"hgvs_p": null,
"transcript": "NM_001389613.1",
"protein_id": "NP_001376542.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1429,
"cds_start": -4,
"cds_end": null,
"cds_length": 4290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAV1",
"gene_hgnc_id": 15989,
"hgvs_c": "c.54-1425G>C",
"hgvs_p": null,
"transcript": "NM_001389614.1",
"protein_id": "NP_001376543.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1418,
"cds_start": -4,
"cds_end": null,
"cds_length": 4257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NAV1",
"gene_hgnc_id": 15989,
"hgvs_c": "c.1296-1425G>C",
"hgvs_p": null,
"transcript": "ENST00000850636.1",
"protein_id": "ENSP00000520915.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 431,
"cds_start": -4,
"cds_end": null,
"cds_length": 1298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IPO9-AS1",
"gene_hgnc_id": 40892,
"hgvs_c": "n.684+38231C>G",
"hgvs_p": null,
"transcript": "ENST00000413035.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAV1",
"gene_hgnc_id": 15989,
"hgvs_c": "n.529-1425G>C",
"hgvs_p": null,
"transcript": "ENST00000490213.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IPO9-AS1",
"gene_hgnc_id": 40892,
"hgvs_c": "n.684+38231C>G",
"hgvs_p": null,
"transcript": "NR_046696.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NAV1",
"gene_hgnc_id": 15989,
"dbsnp": "rs665770",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.407,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000685211.1",
"gene_symbol": "NAV1",
"hgnc_id": 15989,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2088-1425G>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000413035.5",
"gene_symbol": "IPO9-AS1",
"hgnc_id": 40892,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.684+38231C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}