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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: 16-1452863-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1452863&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1452863,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001287.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1245T>C",
"hgvs_p": "p.Ile415Ile",
"transcript": "NM_001287.6",
"protein_id": "NP_001278.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 805,
"cds_start": 1245,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": "ENST00000382745.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287.6"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1245T>C",
"hgvs_p": "p.Ile415Ile",
"transcript": "ENST00000382745.9",
"protein_id": "ENSP00000372193.4",
"transcript_support_level": 1,
"aa_start": 415,
"aa_end": null,
"aa_length": 805,
"cds_start": 1245,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": "NM_001287.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382745.9"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1173T>C",
"hgvs_p": "p.Ile391Ile",
"transcript": "ENST00000262318.12",
"protein_id": "ENSP00000262318.8",
"transcript_support_level": 5,
"aa_start": 391,
"aa_end": null,
"aa_length": 901,
"cds_start": 1173,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262318.12"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1326T>C",
"hgvs_p": "p.Ile442Ile",
"transcript": "ENST00000892994.1",
"protein_id": "ENSP00000563053.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 832,
"cds_start": 1326,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 3844,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892994.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1326T>C",
"hgvs_p": "p.Ile442Ile",
"transcript": "ENST00000892996.1",
"protein_id": "ENSP00000563055.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 832,
"cds_start": 1326,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 1377,
"cdna_end": null,
"cdna_length": 3841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892996.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1317T>C",
"hgvs_p": "p.Ile439Ile",
"transcript": "ENST00000892992.1",
"protein_id": "ENSP00000563051.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 829,
"cds_start": 1317,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 4273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892992.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1245T>C",
"hgvs_p": "p.Ile415Ile",
"transcript": "ENST00000971708.1",
"protein_id": "ENSP00000641767.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 814,
"cds_start": 1245,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971708.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1245T>C",
"hgvs_p": "p.Ile415Ile",
"transcript": "ENST00000699947.1",
"protein_id": "ENSP00000514703.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 808,
"cds_start": 1245,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 1309,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699947.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1245T>C",
"hgvs_p": "p.Ile415Ile",
"transcript": "ENST00000892995.1",
"protein_id": "ENSP00000563054.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 793,
"cds_start": 1245,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892995.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1182T>C",
"hgvs_p": "p.Ile394Ile",
"transcript": "ENST00000917692.1",
"protein_id": "ENSP00000587751.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 784,
"cds_start": 1182,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917692.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1173T>C",
"hgvs_p": "p.Ile391Ile",
"transcript": "NM_001114331.3",
"protein_id": "NP_001107803.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 781,
"cds_start": 1173,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114331.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1173T>C",
"hgvs_p": "p.Ile391Ile",
"transcript": "ENST00000892993.1",
"protein_id": "ENSP00000563052.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 781,
"cds_start": 1173,
"cds_end": null,
"cds_length": 2346,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 4122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892993.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1245T>C",
"hgvs_p": "p.Ile415Ile",
"transcript": "ENST00000892998.1",
"protein_id": "ENSP00000563057.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 778,
"cds_start": 1245,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 1317,
"cdna_end": null,
"cdna_length": 2450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892998.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1245T>C",
"hgvs_p": "p.Ile415Ile",
"transcript": "ENST00000892997.1",
"protein_id": "ENSP00000563056.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 774,
"cds_start": 1245,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1317,
"cdna_end": null,
"cdna_length": 2987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892997.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1128T>C",
"hgvs_p": "p.Ile376Ile",
"transcript": "ENST00000917694.1",
"protein_id": "ENSP00000587753.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 766,
"cds_start": 1128,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 3647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917694.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1110T>C",
"hgvs_p": "p.Ile370Ile",
"transcript": "ENST00000971709.1",
"protein_id": "ENSP00000641768.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 760,
"cds_start": 1110,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1142,
"cdna_end": null,
"cdna_length": 3603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971709.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1245T>C",
"hgvs_p": "p.Ile415Ile",
"transcript": "ENST00000917693.1",
"protein_id": "ENSP00000587752.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 731,
"cds_start": 1245,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917693.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "c.1071T>C",
"hgvs_p": "p.Ile357Ile",
"transcript": "XM_011522354.2",
"protein_id": "XP_011520656.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 747,
"cds_start": 1071,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 4113,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522354.2"
},
{
"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": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"hgvs_c": "n.1245T>C",
"hgvs_p": null,
"transcript": "ENST00000699948.1",
"protein_id": "ENSP00000514704.1",
"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": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699948.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260051",
"gene_hgnc_id": 58480,
"hgvs_c": "n.*210A>G",
"hgvs_p": null,
"transcript": "ENST00000563610.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 570,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000563610.1"
}
],
"gene_symbol": "CLCN7",
"gene_hgnc_id": 2025,
"dbsnp": "rs12926669",
"frequency_reference_population": 0.09627836,
"hom_count_reference_population": 8168,
"allele_count_reference_population": 151939,
"gnomad_exomes_af": 0.0965813,
"gnomad_genomes_af": 0.0934409,
"gnomad_exomes_ac": 137713,
"gnomad_genomes_ac": 14226,
"gnomad_exomes_homalt": 7419,
"gnomad_genomes_homalt": 749,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.116,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001287.6",
"gene_symbol": "CLCN7",
"hgnc_id": 2025,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.1245T>C",
"hgvs_p": "p.Ile415Ile"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000563610.1",
"gene_symbol": "ENSG00000260051",
"hgnc_id": 58480,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*210A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Osteopetrosis,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "not specified|Osteopetrosis|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}