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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: 8-133239036-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=133239036&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 133239036,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000323851.13",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.1027C>G",
"hgvs_p": "p.Arg343Gly",
"transcript": "NM_006096.4",
"protein_id": "NP_006087.2",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 394,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": "ENST00000323851.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.1027C>G",
"hgvs_p": "p.Arg343Gly",
"transcript": "ENST00000323851.13",
"protein_id": "ENSP00000319977.8",
"transcript_support_level": 1,
"aa_start": 343,
"aa_end": null,
"aa_length": 394,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": "NM_006096.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Arg277Gly",
"transcript": "ENST00000522476.5",
"protein_id": "ENSP00000427894.1",
"transcript_support_level": 1,
"aa_start": 277,
"aa_end": null,
"aa_length": 328,
"cds_start": 829,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 1385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.1078C>G",
"hgvs_p": "p.Arg360Gly",
"transcript": "NM_001374844.1",
"protein_id": "NP_001361773.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 411,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.1027C>G",
"hgvs_p": "p.Arg343Gly",
"transcript": "NM_001135242.2",
"protein_id": "NP_001128714.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 394,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1561,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.1027C>G",
"hgvs_p": "p.Arg343Gly",
"transcript": "NM_001374845.1",
"protein_id": "NP_001361774.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 394,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.1027C>G",
"hgvs_p": "p.Arg343Gly",
"transcript": "NM_001374846.1",
"protein_id": "NP_001361775.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 394,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 2958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.1027C>G",
"hgvs_p": "p.Arg343Gly",
"transcript": "ENST00000414097.6",
"protein_id": "ENSP00000404854.2",
"transcript_support_level": 2,
"aa_start": 343,
"aa_end": null,
"aa_length": 394,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 3755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.1027C>G",
"hgvs_p": "p.Arg343Gly",
"transcript": "ENST00000537882.3",
"protein_id": "ENSP00000437443.2",
"transcript_support_level": 2,
"aa_start": 343,
"aa_end": null,
"aa_length": 386,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 1231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Arg277Gly",
"transcript": "NM_001258432.2",
"protein_id": "NP_001245361.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 328,
"cds_start": 829,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.829C>G",
"hgvs_p": "p.Arg277Gly",
"transcript": "NM_001374847.1",
"protein_id": "NP_001361776.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 328,
"cds_start": 829,
"cds_end": null,
"cds_length": 987,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 2944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.784C>G",
"hgvs_p": "p.Arg262Gly",
"transcript": "NM_001258433.2",
"protein_id": "NP_001245362.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 313,
"cds_start": 784,
"cds_end": null,
"cds_length": 942,
"cdna_start": 1058,
"cdna_end": null,
"cdna_length": 2919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Arg90Gly",
"transcript": "ENST00000518176.5",
"protein_id": "ENSP00000429007.1",
"transcript_support_level": 2,
"aa_start": 90,
"aa_end": null,
"aa_length": 141,
"cds_start": 268,
"cds_end": null,
"cds_length": 426,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "c.154C>G",
"hgvs_p": "p.Arg52Gly",
"transcript": "ENST00000518066.5",
"protein_id": "ENSP00000431057.1",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 103,
"cds_start": 154,
"cds_end": null,
"cds_length": 312,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "n.*633C>G",
"hgvs_p": null,
"transcript": "ENST00000517599.5",
"protein_id": "ENSP00000429172.1",
"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": 2918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "n.2123C>G",
"hgvs_p": null,
"transcript": "ENST00000519278.5",
"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": 3983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "n.285C>G",
"hgvs_p": null,
"transcript": "ENST00000521026.5",
"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": 2145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "n.489C>G",
"hgvs_p": null,
"transcript": "ENST00000521414.5",
"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": 2349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "n.*633C>G",
"hgvs_p": null,
"transcript": "ENST00000517599.5",
"protein_id": "ENSP00000429172.1",
"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": 2918,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"hgvs_c": "n.2456+36C>G",
"hgvs_p": null,
"transcript": "ENST00000521438.1",
"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": 2810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NDRG1",
"gene_hgnc_id": 7679,
"dbsnp": "rs146613168",
"frequency_reference_population": 6.922092e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.92209e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.39554041624069214,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.193,
"revel_prediction": "Benign",
"alphamissense_score": 0.804,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.956,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000323851.13",
"gene_symbol": "NDRG1",
"hgnc_id": 7679,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1027C>G",
"hgvs_p": "p.Arg343Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}