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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: 14-76439494-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=76439494&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 76439494,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001379180.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRB",
"gene_hgnc_id": 3473,
"hgvs_c": "c.204G>C",
"hgvs_p": "p.Leu68Leu",
"transcript": "NM_001379180.1",
"protein_id": "NP_001366109.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 454,
"cds_start": 204,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 5009,
"mane_select": "ENST00000644823.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRB",
"gene_hgnc_id": 3473,
"hgvs_c": "c.204G>C",
"hgvs_p": "p.Leu68Leu",
"transcript": "ENST00000644823.1",
"protein_id": "ENSP00000493776.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 454,
"cds_start": 204,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 5009,
"mane_select": "NM_001379180.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRB",
"gene_hgnc_id": 3473,
"hgvs_c": "c.141G>C",
"hgvs_p": "p.Leu47Leu",
"transcript": "ENST00000509242.5",
"protein_id": "ENSP00000422488.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 508,
"cds_start": 141,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 2849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRB",
"gene_hgnc_id": 3473,
"hgvs_c": "n.141G>C",
"hgvs_p": null,
"transcript": "ENST00000505752.6",
"protein_id": "ENSP00000423004.1",
"transcript_support_level": 1,
"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": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRB",
"gene_hgnc_id": 3473,
"hgvs_c": "n.213G>C",
"hgvs_p": null,
"transcript": "ENST00000556177.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRB",
"gene_hgnc_id": 3473,
"hgvs_c": "c.141G>C",
"hgvs_p": "p.Leu47Leu",
"transcript": "NM_004452.4",
"protein_id": "NP_004443.3",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 508,
"cds_start": 141,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 3090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRB",
"gene_hgnc_id": 3473,
"hgvs_c": "c.141G>C",
"hgvs_p": "p.Leu47Leu",
"transcript": "ENST00000380887.7",
"protein_id": "ENSP00000370270.2",
"transcript_support_level": 5,
"aa_start": 47,
"aa_end": null,
"aa_length": 508,
"cds_start": 141,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 3014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRB",
"gene_hgnc_id": 3473,
"hgvs_c": "c.156G>C",
"hgvs_p": "p.Leu52Leu",
"transcript": "NM_001411038.1",
"protein_id": "NP_001397967.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 438,
"cds_start": 156,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 4834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRB",
"gene_hgnc_id": 3473,
"hgvs_c": "c.156G>C",
"hgvs_p": "p.Leu52Leu",
"transcript": "ENST00000512784.6",
"protein_id": "ENSP00000424992.2",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 438,
"cds_start": 156,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRB",
"gene_hgnc_id": 3473,
"hgvs_c": "c.204G>C",
"hgvs_p": "p.Leu68Leu",
"transcript": "XM_011536547.3",
"protein_id": "XP_011534849.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 573,
"cds_start": 204,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRB",
"gene_hgnc_id": 3473,
"hgvs_c": "c.141G>C",
"hgvs_p": "p.Leu47Leu",
"transcript": "XM_011536550.3",
"protein_id": "XP_011534852.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 552,
"cds_start": 141,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 3872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRB",
"gene_hgnc_id": 3473,
"hgvs_c": "c.141G>C",
"hgvs_p": "p.Leu47Leu",
"transcript": "XM_047431079.1",
"protein_id": "XP_047287035.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 552,
"cds_start": 141,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 3478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRB",
"gene_hgnc_id": 3473,
"hgvs_c": "c.204G>C",
"hgvs_p": "p.Leu68Leu",
"transcript": "XM_011536553.3",
"protein_id": "XP_011534855.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 531,
"cds_start": 204,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 4736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRB",
"gene_hgnc_id": 3473,
"hgvs_c": "c.204G>C",
"hgvs_p": "p.Leu68Leu",
"transcript": "XM_011536554.3",
"protein_id": "XP_011534856.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 529,
"cds_start": 204,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRB",
"gene_hgnc_id": 3473,
"hgvs_c": "c.204G>C",
"hgvs_p": "p.Leu68Leu",
"transcript": "XM_024449508.2",
"protein_id": "XP_024305276.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 521,
"cds_start": 204,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESRRB",
"gene_hgnc_id": 3473,
"hgvs_c": "c.-148G>C",
"hgvs_p": null,
"transcript": "ENST00000509323.1",
"protein_id": "ENSP00000494434.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": -4,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ESRRB",
"gene_hgnc_id": 3473,
"dbsnp": "rs61744548",
"frequency_reference_population": 0.0031633324,
"hom_count_reference_population": 144,
"allele_count_reference_population": 5101,
"gnomad_exomes_af": 0.00177643,
"gnomad_genomes_af": 0.0164601,
"gnomad_exomes_ac": 2594,
"gnomad_genomes_ac": 2507,
"gnomad_exomes_homalt": 71,
"gnomad_genomes_homalt": 73,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"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": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.758,
"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": -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_001379180.1",
"gene_symbol": "ESRRB",
"hgnc_id": 3473,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.204G>C",
"hgvs_p": "p.Leu68Leu"
}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 35,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:5",
"phenotype_combined": "not specified|Autosomal recessive nonsyndromic hearing loss 35|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}