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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: 19-11116926-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11116926&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11116926,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000558518.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1773C>T",
"hgvs_p": "p.Asn591Asn",
"transcript": "NM_000527.5",
"protein_id": "NP_000518.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 860,
"cds_start": 1773,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": "ENST00000558518.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1773C>T",
"hgvs_p": "p.Asn591Asn",
"transcript": "ENST00000558518.6",
"protein_id": "ENSP00000454071.1",
"transcript_support_level": 1,
"aa_start": 591,
"aa_end": null,
"aa_length": 860,
"cds_start": 1773,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": "NM_000527.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2031C>T",
"hgvs_p": "p.Asn677Asn",
"transcript": "ENST00000252444.10",
"protein_id": "ENSP00000252444.6",
"transcript_support_level": 1,
"aa_start": 677,
"aa_end": null,
"aa_length": 946,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2047,
"cdna_end": null,
"cdna_length": 5357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1773C>T",
"hgvs_p": "p.Asn591Asn",
"transcript": "ENST00000558013.5",
"protein_id": "ENSP00000453346.1",
"transcript_support_level": 1,
"aa_start": 591,
"aa_end": null,
"aa_length": 858,
"cds_start": 1773,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 3144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1773C>T",
"hgvs_p": "p.Asn591Asn",
"transcript": "ENST00000557933.5",
"protein_id": "ENSP00000453557.1",
"transcript_support_level": 5,
"aa_start": 591,
"aa_end": null,
"aa_length": 948,
"cds_start": 1773,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 2941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1773C>T",
"hgvs_p": "p.Asn591Asn",
"transcript": "NM_001195798.2",
"protein_id": "NP_001182727.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 858,
"cds_start": 1773,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 5167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1653C>T",
"hgvs_p": "p.Asn551Asn",
"transcript": "ENST00000560467.2",
"protein_id": "ENSP00000453513.2",
"transcript_support_level": 3,
"aa_start": 551,
"aa_end": null,
"aa_length": 820,
"cds_start": 1653,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 1738,
"cdna_end": null,
"cdna_length": 5048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1650C>T",
"hgvs_p": "p.Asn550Asn",
"transcript": "NM_001195799.2",
"protein_id": "NP_001182728.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 819,
"cds_start": 1650,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 5050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1650C>T",
"hgvs_p": "p.Asn550Asn",
"transcript": "ENST00000535915.5",
"protein_id": "ENSP00000440520.1",
"transcript_support_level": 2,
"aa_start": 550,
"aa_end": null,
"aa_length": 819,
"cds_start": 1650,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1269C>T",
"hgvs_p": "p.Asn423Asn",
"transcript": "NM_001195800.2",
"protein_id": "NP_001182729.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 692,
"cds_start": 1269,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 4669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1269C>T",
"hgvs_p": "p.Asn423Asn",
"transcript": "ENST00000455727.6",
"protein_id": "ENSP00000397829.2",
"transcript_support_level": 2,
"aa_start": 423,
"aa_end": null,
"aa_length": 692,
"cds_start": 1269,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1392C>T",
"hgvs_p": "p.Asn464Asn",
"transcript": "NM_001195803.2",
"protein_id": "NP_001182732.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 682,
"cds_start": 1392,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 4639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1392C>T",
"hgvs_p": "p.Asn464Asn",
"transcript": "ENST00000545707.5",
"protein_id": "ENSP00000437639.1",
"transcript_support_level": 2,
"aa_start": 464,
"aa_end": null,
"aa_length": 682,
"cds_start": 1392,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 2429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1773C>T",
"hgvs_p": "p.Asn591Asn",
"transcript": "XM_011528010.3",
"protein_id": "XP_011526312.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 834,
"cds_start": 1773,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 5095,
"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": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "n.1392C>T",
"hgvs_p": null,
"transcript": "ENST00000713991.1",
"protein_id": "ENSP00000519281.1",
"transcript_support_level": null,
"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": 4922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "n.1705+714C>T",
"hgvs_p": null,
"transcript": "ENST00000559340.2",
"protein_id": "ENSP00000453696.2",
"transcript_support_level": 5,
"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": 5054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1705+714C>T",
"hgvs_p": null,
"transcript": "XM_047438831.1",
"protein_id": "XP_047294787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 596,
"cds_start": -4,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"dbsnp": "rs688",
"frequency_reference_population": 0.41721472,
"hom_count_reference_population": 147093,
"allele_count_reference_population": 673211,
"gnomad_exomes_af": 0.425548,
"gnomad_genomes_af": 0.337045,
"gnomad_exomes_ac": 622001,
"gnomad_genomes_ac": 51210,
"gnomad_exomes_homalt": 136666,
"gnomad_genomes_homalt": 10427,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7400000095367432,
"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": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.218,
"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": "ENST00000558518.6",
"gene_symbol": "LDLR",
"hgnc_id": 6547,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1773C>T",
"hgvs_p": "p.Asn591Asn"
}
],
"clinvar_disease": " 1, familial,Cardiovascular phenotype,Familial hypercholesterolemia,Hypercholesterolemia,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:14",
"phenotype_combined": "not specified|Hypercholesterolemia, familial, 1|Familial hypercholesterolemia|not provided|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}