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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: 1-25563140-CT-AC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=25563140&ref=CT&alt=AC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 25563140,
"ref": "CT",
"alt": "AC",
"effect": "missense_variant",
"transcript": "ENST00000374338.5",
"consequences": [
{
"aa_ref": "PS",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.603_604delCTinsAC",
"hgvs_p": "p.Ser202Pro",
"transcript": "NM_015627.3",
"protein_id": "NP_056442.2",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 308,
"cds_start": 603,
"cds_end": null,
"cds_length": 927,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 2914,
"mane_select": "ENST00000374338.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PS",
"aa_alt": "PP",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.603_604delCTinsAC",
"hgvs_p": "p.Ser202Pro",
"transcript": "ENST00000374338.5",
"protein_id": "ENSP00000363458.4",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 308,
"cds_start": 603,
"cds_end": null,
"cds_length": 927,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 2914,
"mane_select": "NM_015627.3",
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "n.325_326delCTinsAC",
"hgvs_p": null,
"transcript": "ENST00000484476.5",
"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": 657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PS",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.603_604delCTinsAC",
"hgvs_p": "p.Ser202Pro",
"transcript": "ENST00000718277.1",
"protein_id": "ENSP00000520715.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 270,
"cds_start": 603,
"cds_end": null,
"cds_length": 813,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PS",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.603_604delCTinsAC",
"hgvs_p": "p.Ser202Pro",
"transcript": "XM_011541209.4",
"protein_id": "XP_011539511.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 307,
"cds_start": 603,
"cds_end": null,
"cds_length": 924,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PS",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.603_604delCTinsAC",
"hgvs_p": "p.Ser202Pro",
"transcript": "XM_047417473.1",
"protein_id": "XP_047273429.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 307,
"cds_start": 603,
"cds_end": null,
"cds_length": 924,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 1032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PS",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.522_523delCTinsAC",
"hgvs_p": "p.Ser175Pro",
"transcript": "XM_017000994.3",
"protein_id": "XP_016856483.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 281,
"cds_start": 522,
"cds_end": null,
"cds_length": 846,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PS",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.522_523delCTinsAC",
"hgvs_p": "p.Ser175Pro",
"transcript": "XM_047417482.1",
"protein_id": "XP_047273438.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 280,
"cds_start": 522,
"cds_end": null,
"cds_length": 843,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 2903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PS",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.603_604delCTinsAC",
"hgvs_p": "p.Ser202Pro",
"transcript": "XM_006710559.5",
"protein_id": "XP_006710622.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 278,
"cds_start": 603,
"cds_end": null,
"cds_length": 837,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PS",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.603_604delCTinsAC",
"hgvs_p": "p.Ser202Pro",
"transcript": "XM_011541210.4",
"protein_id": "XP_011539512.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 277,
"cds_start": 603,
"cds_end": null,
"cds_length": 834,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PS",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.603_604delCTinsAC",
"hgvs_p": "p.Ser202Pro",
"transcript": "XM_006710560.5",
"protein_id": "XP_006710623.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 270,
"cds_start": 603,
"cds_end": null,
"cds_length": 813,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PS",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.603_604delCTinsAC",
"hgvs_p": "p.Ser202Pro",
"transcript": "XM_011541211.4",
"protein_id": "XP_011539513.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 269,
"cds_start": 603,
"cds_end": null,
"cds_length": 810,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 1162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PS",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.603_604delCTinsAC",
"hgvs_p": "p.Ser202Pro",
"transcript": "XM_006710561.5",
"protein_id": "XP_006710624.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 264,
"cds_start": 603,
"cds_end": null,
"cds_length": 795,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 1107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PS",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.603_604delCTinsAC",
"hgvs_p": "p.Ser202Pro",
"transcript": "XM_011541212.4",
"protein_id": "XP_011539514.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 263,
"cds_start": 603,
"cds_end": null,
"cds_length": 792,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 1104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PS",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.468_469delCTinsAC",
"hgvs_p": "p.Ser157Pro",
"transcript": "XM_024446315.2",
"protein_id": "XP_024302083.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 263,
"cds_start": 468,
"cds_end": null,
"cds_length": 792,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "PS",
"aa_alt": "PP",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.522_523delCTinsAC",
"hgvs_p": "p.Ser175Pro",
"transcript": "XM_047417497.1",
"protein_id": "XP_047273453.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 251,
"cds_start": 522,
"cds_end": null,
"cds_length": 756,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 4392,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "n.1073_1074delCTinsAC",
"hgvs_p": null,
"transcript": "ENST00000488127.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 4670,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "n.603_604delCTinsAC",
"hgvs_p": null,
"transcript": "ENST00000718288.1",
"protein_id": "ENSP00000520726.1",
"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": 2010,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "n.688_689delCTinsAC",
"hgvs_p": null,
"transcript": "XR_007058621.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 4304,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "n.696_697delCTinsAC",
"hgvs_p": null,
"transcript": "XR_946603.4",
"protein_id": null,
"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": 4312,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.459+5873_459+5874delCTinsAC",
"hgvs_p": null,
"transcript": "ENST00000718287.1",
"protein_id": "ENSP00000520725.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1070,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.459+5873_459+5874delCTinsAC",
"hgvs_p": null,
"transcript": "XM_017000995.3",
"protein_id": "XP_016856484.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": -4,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"dbsnp": "rs1060504131",
"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": -0.666,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000374338.5",
"gene_symbol": "LDLRAP1",
"hgnc_id": 18640,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.603_604delCTinsAC",
"hgvs_p": "p.Ser202Pro"
}
],
"clinvar_disease": " 4, familial,Hypercholesterolemia",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Hypercholesterolemia, familial, 4",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}