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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: 19-11120096-AAGTATTTTGGAC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11120096&ref=AAGTATTTTGGAC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11120096,
"ref": "AAGTATTTTGGAC",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000558518.6",
"consequences": [
{
"aa_ref": "VFWTD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1853_1864delTATTTTGGACAG",
"hgvs_p": "p.Val618_Thr621del",
"transcript": "NM_000527.5",
"protein_id": "NP_000518.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 860,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": "ENST00000558518.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VFWTD",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1853_1864delTATTTTGGACAG",
"hgvs_p": "p.Val618_Thr621del",
"transcript": "ENST00000558518.6",
"protein_id": "ENSP00000454071.1",
"transcript_support_level": 1,
"aa_start": 618,
"aa_end": null,
"aa_length": 860,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": "NM_000527.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VFWTD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2111_2122delTATTTTGGACAG",
"hgvs_p": "p.Val704_Thr707del",
"transcript": "ENST00000252444.10",
"protein_id": "ENSP00000252444.6",
"transcript_support_level": 1,
"aa_start": 704,
"aa_end": null,
"aa_length": 946,
"cds_start": 2111,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2127,
"cdna_end": null,
"cdna_length": 5357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VFWTD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1853_1864delTATTTTGGACAG",
"hgvs_p": "p.Val618_Thr621del",
"transcript": "ENST00000558013.5",
"protein_id": "ENSP00000453346.1",
"transcript_support_level": 1,
"aa_start": 618,
"aa_end": null,
"aa_length": 858,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 1924,
"cdna_end": null,
"cdna_length": 3144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VFWTD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1853_1864delTATTTTGGACAG",
"hgvs_p": "p.Val618_Thr621del",
"transcript": "ENST00000557933.5",
"protein_id": "ENSP00000453557.1",
"transcript_support_level": 5,
"aa_start": 618,
"aa_end": null,
"aa_length": 948,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2847,
"cdna_start": 1940,
"cdna_end": null,
"cdna_length": 2941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VFWTD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1853_1864delTATTTTGGACAG",
"hgvs_p": "p.Val618_Thr621del",
"transcript": "NM_001195798.2",
"protein_id": "NP_001182727.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 858,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 5167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VFWTD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1733_1744delTATTTTGGACAG",
"hgvs_p": "p.Val578_Thr581del",
"transcript": "ENST00000560467.2",
"protein_id": "ENSP00000453513.2",
"transcript_support_level": 3,
"aa_start": 578,
"aa_end": null,
"aa_length": 820,
"cds_start": 1733,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 1818,
"cdna_end": null,
"cdna_length": 5048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VFWTD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1730_1741delTATTTTGGACAG",
"hgvs_p": "p.Val577_Thr580del",
"transcript": "NM_001195799.2",
"protein_id": "NP_001182728.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 819,
"cds_start": 1730,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 5050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VFWTD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1730_1741delTATTTTGGACAG",
"hgvs_p": "p.Val577_Thr580del",
"transcript": "ENST00000535915.5",
"protein_id": "ENSP00000440520.1",
"transcript_support_level": 2,
"aa_start": 577,
"aa_end": null,
"aa_length": 819,
"cds_start": 1730,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VFWTD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1349_1360delTATTTTGGACAG",
"hgvs_p": "p.Val450_Thr453del",
"transcript": "NM_001195800.2",
"protein_id": "NP_001182729.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 692,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 4669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VFWTD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.1349_1360delTATTTTGGACAG",
"hgvs_p": "p.Val450_Thr453del",
"transcript": "ENST00000455727.6",
"protein_id": "ENSP00000397829.2",
"transcript_support_level": 2,
"aa_start": 450,
"aa_end": null,
"aa_length": 692,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VFWTD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1472_1483delTATTTTGGACAG",
"hgvs_p": "p.Val491_Thr494del",
"transcript": "NM_001195803.2",
"protein_id": "NP_001182732.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 682,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 4639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VFWTD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1472_1483delTATTTTGGACAG",
"hgvs_p": "p.Val491_Thr494del",
"transcript": "ENST00000545707.5",
"protein_id": "ENSP00000437639.1",
"transcript_support_level": 2,
"aa_start": 491,
"aa_end": null,
"aa_length": 682,
"cds_start": 1472,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 2429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "VFWTD",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1853_1864delTATTTTGGACAG",
"hgvs_p": "p.Val618_Thr621del",
"transcript": "XM_011528010.3",
"protein_id": "XP_011526312.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 834,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "SILDR",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1713_1724delTATTTTGGACAG",
"hgvs_p": "p.Ser571_Asp574del",
"transcript": "XM_047438831.1",
"protein_id": "XP_047294787.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 596,
"cds_start": 1713,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 1933,
"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": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "n.1713_1724delTATTTTGGACAG",
"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": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_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": "n.1472_1483delTATTTTGGACAG",
"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
}
],
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"dbsnp": "rs879255052",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.784,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM4,PP3,PP5_Moderate",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM1",
"PM4",
"PP3",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000558518.6",
"gene_symbol": "LDLR",
"hgnc_id": 6547,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1853_1864delTATTTTGGACAG",
"hgvs_p": "p.Val618_Thr621del"
}
],
"clinvar_disease": " 1, familial,Hypercholesterolemia",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Hypercholesterolemia, familial, 1",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}