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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: 16-74459783-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=74459783&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 74459783,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_012201.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3043A>C",
"hgvs_p": "p.Ser1015Arg",
"transcript": "NM_001145667.2",
"protein_id": "NP_001139139.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1179,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3540,
"cdna_start": 3063,
"cdna_end": null,
"cdna_length": 9287,
"mane_select": "ENST00000422840.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145667.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3043A>C",
"hgvs_p": "p.Ser1015Arg",
"transcript": "ENST00000422840.7",
"protein_id": "ENSP00000405984.3",
"transcript_support_level": 1,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1179,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3540,
"cdna_start": 3063,
"cdna_end": null,
"cdna_length": 9287,
"mane_select": "NM_001145667.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422840.7"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3043A>C",
"hgvs_p": "p.Ser1015Arg",
"transcript": "ENST00000205061.9",
"protein_id": "ENSP00000205061.5",
"transcript_support_level": 1,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1203,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3612,
"cdna_start": 3063,
"cdna_end": null,
"cdna_length": 8261,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000205061.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "n.*1122A>C",
"hgvs_p": null,
"transcript": "ENST00000567951.5",
"protein_id": "ENSP00000455950.1",
"transcript_support_level": 1,
"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": 2918,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000567951.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "n.*1122A>C",
"hgvs_p": null,
"transcript": "ENST00000567951.5",
"protein_id": "ENSP00000455950.1",
"transcript_support_level": 1,
"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": 2918,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000567951.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3043A>C",
"hgvs_p": "p.Ser1015Arg",
"transcript": "NM_012201.6",
"protein_id": "NP_036333.2",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1203,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3612,
"cdna_start": 3063,
"cdna_end": null,
"cdna_length": 8248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012201.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3010A>C",
"hgvs_p": "p.Ser1004Arg",
"transcript": "NM_001145666.2",
"protein_id": "NP_001139138.1",
"transcript_support_level": null,
"aa_start": 1004,
"aa_end": null,
"aa_length": 1192,
"cds_start": 3010,
"cds_end": null,
"cds_length": 3579,
"cdna_start": 3030,
"cdna_end": null,
"cdna_length": 8215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145666.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3010A>C",
"hgvs_p": "p.Ser1004Arg",
"transcript": "ENST00000447066.6",
"protein_id": "ENSP00000406946.2",
"transcript_support_level": 2,
"aa_start": 1004,
"aa_end": null,
"aa_length": 1192,
"cds_start": 3010,
"cds_end": null,
"cds_length": 3579,
"cdna_start": 3028,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447066.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3046A>C",
"hgvs_p": "p.Ser1016Arg",
"transcript": "ENST00000881339.1",
"protein_id": "ENSP00000551398.1",
"transcript_support_level": null,
"aa_start": 1016,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3046,
"cds_end": null,
"cds_length": 3543,
"cdna_start": 3066,
"cdna_end": null,
"cdna_length": 3922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881339.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3037A>C",
"hgvs_p": "p.Ser1013Arg",
"transcript": "ENST00000881337.1",
"protein_id": "ENSP00000551396.1",
"transcript_support_level": null,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1177,
"cds_start": 3037,
"cds_end": null,
"cds_length": 3534,
"cdna_start": 3057,
"cdna_end": null,
"cdna_length": 3913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881337.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.2980A>C",
"hgvs_p": "p.Ser994Arg",
"transcript": "ENST00000941220.1",
"protein_id": "ENSP00000611279.1",
"transcript_support_level": null,
"aa_start": 994,
"aa_end": null,
"aa_length": 1158,
"cds_start": 2980,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 3000,
"cdna_end": null,
"cdna_length": 3845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941220.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.2893A>C",
"hgvs_p": "p.Ser965Arg",
"transcript": "ENST00000881340.1",
"protein_id": "ENSP00000551399.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2893,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 2913,
"cdna_end": null,
"cdna_length": 3769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881340.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.2827A>C",
"hgvs_p": "p.Ser943Arg",
"transcript": "ENST00000881341.1",
"protein_id": "ENSP00000551400.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 1107,
"cds_start": 2827,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 2838,
"cdna_end": null,
"cdna_length": 3694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881341.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3043A>C",
"hgvs_p": "p.Ser1015Arg",
"transcript": "ENST00000881338.1",
"protein_id": "ENSP00000551397.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1103,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 3063,
"cdna_end": null,
"cdna_length": 3691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881338.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "n.*1055A>C",
"hgvs_p": null,
"transcript": "ENST00000562090.5",
"protein_id": "ENSP00000454218.1",
"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": 4037,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000562090.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "n.3172A>C",
"hgvs_p": null,
"transcript": "NR_027264.2",
"protein_id": null,
"transcript_support_level": null,
"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": 9396,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_027264.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "n.2060A>C",
"hgvs_p": null,
"transcript": "NR_027265.2",
"protein_id": null,
"transcript_support_level": null,
"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": 8284,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_027265.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "n.*1055A>C",
"hgvs_p": null,
"transcript": "ENST00000562090.5",
"protein_id": "ENSP00000454218.1",
"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": 4037,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000562090.5"
}
],
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"dbsnp": "rs763867401",
"frequency_reference_population": 0.0000013993314,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000139933,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1404401957988739,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.198,
"revel_prediction": "Benign",
"alphamissense_score": 0.0985,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.605,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012201.6",
"gene_symbol": "GLG1",
"hgnc_id": 4316,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3043A>C",
"hgvs_p": "p.Ser1015Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}