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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: 16-74453200-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=74453200&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 74453200,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_012201.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3507C>T",
"hgvs_p": "p.Thr1169Thr",
"transcript": "NM_001145667.2",
"protein_id": "NP_001139139.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1179,
"cds_start": 3507,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000422840.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145667.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3507C>T",
"hgvs_p": "p.Thr1169Thr",
"transcript": "ENST00000422840.7",
"protein_id": "ENSP00000405984.3",
"transcript_support_level": 1,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1179,
"cds_start": 3507,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001145667.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422840.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3507C>T",
"hgvs_p": "p.Thr1169Thr",
"transcript": "ENST00000205061.9",
"protein_id": "ENSP00000205061.5",
"transcript_support_level": 1,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1203,
"cds_start": 3507,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "n.*1586C>T",
"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": null,
"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": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "n.*1586C>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000567951.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3507C>T",
"hgvs_p": "p.Thr1169Thr",
"transcript": "NM_012201.6",
"protein_id": "NP_036333.2",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1203,
"cds_start": 3507,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012201.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3474C>T",
"hgvs_p": "p.Thr1158Thr",
"transcript": "NM_001145666.2",
"protein_id": "NP_001139138.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1192,
"cds_start": 3474,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145666.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3474C>T",
"hgvs_p": "p.Thr1158Thr",
"transcript": "ENST00000447066.6",
"protein_id": "ENSP00000406946.2",
"transcript_support_level": 2,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1192,
"cds_start": 3474,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447066.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3510C>T",
"hgvs_p": "p.Thr1170Thr",
"transcript": "ENST00000881339.1",
"protein_id": "ENSP00000551398.1",
"transcript_support_level": null,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3510,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881339.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3501C>T",
"hgvs_p": "p.Thr1167Thr",
"transcript": "ENST00000881337.1",
"protein_id": "ENSP00000551396.1",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1177,
"cds_start": 3501,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881337.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3444C>T",
"hgvs_p": "p.Thr1148Thr",
"transcript": "ENST00000941220.1",
"protein_id": "ENSP00000611279.1",
"transcript_support_level": null,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3444,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941220.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3357C>T",
"hgvs_p": "p.Thr1119Thr",
"transcript": "ENST00000881340.1",
"protein_id": "ENSP00000551399.1",
"transcript_support_level": null,
"aa_start": 1119,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3357,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881340.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3291C>T",
"hgvs_p": "p.Thr1097Thr",
"transcript": "ENST00000881341.1",
"protein_id": "ENSP00000551400.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881341.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "c.3279C>T",
"hgvs_p": "p.Thr1093Thr",
"transcript": "ENST00000881338.1",
"protein_id": "ENSP00000551397.1",
"transcript_support_level": null,
"aa_start": 1093,
"aa_end": null,
"aa_length": 1103,
"cds_start": 3279,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "n.663C>T",
"hgvs_p": null,
"transcript": "ENST00000561942.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000561942.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "n.*1519C>T",
"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": null,
"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": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "n.3636C>T",
"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": null,
"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": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "n.2524C>T",
"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": null,
"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": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"hgvs_c": "n.*1519C>T",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000562090.5"
}
],
"gene_symbol": "GLG1",
"gene_hgnc_id": 4316,
"dbsnp": "rs567614609",
"frequency_reference_population": 0.000029741877,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000301003,
"gnomad_genomes_af": 0.0000262971,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.444,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.09,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_012201.6",
"gene_symbol": "GLG1",
"hgnc_id": 4316,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3507C>T",
"hgvs_p": "p.Thr1169Thr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}