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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: 1-25563142-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=25563142&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 25563142,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000374338.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.605C>G",
"hgvs_p": "p.Ser202Cys",
"transcript": "NM_015627.3",
"protein_id": "NP_056442.2",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 308,
"cds_start": 605,
"cds_end": null,
"cds_length": 927,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 2914,
"mane_select": "ENST00000374338.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.605C>G",
"hgvs_p": "p.Ser202Cys",
"transcript": "ENST00000374338.5",
"protein_id": "ENSP00000363458.4",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 308,
"cds_start": 605,
"cds_end": null,
"cds_length": 927,
"cdna_start": 698,
"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.327C>G",
"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": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.605C>G",
"hgvs_p": "p.Ser202Cys",
"transcript": "ENST00000718277.1",
"protein_id": "ENSP00000520715.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 270,
"cds_start": 605,
"cds_end": null,
"cds_length": 813,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 1117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.605C>G",
"hgvs_p": "p.Ser202Cys",
"transcript": "XM_011541209.4",
"protein_id": "XP_011539511.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 307,
"cds_start": 605,
"cds_end": null,
"cds_length": 924,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.605C>G",
"hgvs_p": "p.Ser202Cys",
"transcript": "XM_047417473.1",
"protein_id": "XP_047273429.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 307,
"cds_start": 605,
"cds_end": null,
"cds_length": 924,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 1032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.524C>G",
"hgvs_p": "p.Ser175Cys",
"transcript": "XM_017000994.3",
"protein_id": "XP_016856483.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 281,
"cds_start": 524,
"cds_end": null,
"cds_length": 846,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.524C>G",
"hgvs_p": "p.Ser175Cys",
"transcript": "XM_047417482.1",
"protein_id": "XP_047273438.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 280,
"cds_start": 524,
"cds_end": null,
"cds_length": 843,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 2903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.605C>G",
"hgvs_p": "p.Ser202Cys",
"transcript": "XM_006710559.5",
"protein_id": "XP_006710622.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 278,
"cds_start": 605,
"cds_end": null,
"cds_length": 837,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.605C>G",
"hgvs_p": "p.Ser202Cys",
"transcript": "XM_011541210.4",
"protein_id": "XP_011539512.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 277,
"cds_start": 605,
"cds_end": null,
"cds_length": 834,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.605C>G",
"hgvs_p": "p.Ser202Cys",
"transcript": "XM_006710560.5",
"protein_id": "XP_006710623.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 270,
"cds_start": 605,
"cds_end": null,
"cds_length": 813,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.605C>G",
"hgvs_p": "p.Ser202Cys",
"transcript": "XM_011541211.4",
"protein_id": "XP_011539513.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 269,
"cds_start": 605,
"cds_end": null,
"cds_length": 810,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 1162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.605C>G",
"hgvs_p": "p.Ser202Cys",
"transcript": "XM_006710561.5",
"protein_id": "XP_006710624.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 264,
"cds_start": 605,
"cds_end": null,
"cds_length": 795,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 1107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.605C>G",
"hgvs_p": "p.Ser202Cys",
"transcript": "XM_011541212.4",
"protein_id": "XP_011539514.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 263,
"cds_start": 605,
"cds_end": null,
"cds_length": 792,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 1104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.470C>G",
"hgvs_p": "p.Ser157Cys",
"transcript": "XM_024446315.2",
"protein_id": "XP_024302083.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 263,
"cds_start": 470,
"cds_end": null,
"cds_length": 792,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLRAP1",
"gene_hgnc_id": 18640,
"hgvs_c": "c.524C>G",
"hgvs_p": "p.Ser175Cys",
"transcript": "XM_047417497.1",
"protein_id": "XP_047273453.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 251,
"cds_start": 524,
"cds_end": null,
"cds_length": 756,
"cdna_start": 690,
"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.1075C>G",
"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.605C>G",
"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.690C>G",
"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,
"cds_length": null,
"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.698C>G",
"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+5875C>G",
"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+5875C>G",
"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": "rs121908326",
"frequency_reference_population": 0.000008675037,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000752555,
"gnomad_genomes_af": 0.0000197189,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12469935417175293,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.037,
"revel_prediction": "Benign",
"alphamissense_score": 0.0776,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.592,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000374338.5",
"gene_symbol": "LDLRAP1",
"hgnc_id": 18640,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.605C>G",
"hgvs_p": "p.Ser202Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}