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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: 9-127451550-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127451550&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127451550,
"ref": "G",
"alt": "A",
"effect": "5_prime_UTR_variant",
"transcript": "NM_001005373.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.-308G>A",
"hgvs_p": null,
"transcript": "NM_001005373.4",
"protein_id": "NP_001005373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 723,
"cds_start": -4,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": "ENST00000300417.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.-308G>A",
"hgvs_p": null,
"transcript": "ENST00000300417.11",
"protein_id": "ENSP00000300417.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 723,
"cds_start": -4,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": "NM_001005373.4",
"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": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "n.-308G>A",
"hgvs_p": null,
"transcript": "ENST00000472068.2",
"protein_id": "ENSP00000501555.1",
"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": 2531,
"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": 1,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "n.-1055G>A",
"hgvs_p": null,
"transcript": "ENST00000498513.6",
"protein_id": "ENSP00000501637.1",
"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": 3474,
"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": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "n.-308G>A",
"hgvs_p": null,
"transcript": "ENST00000674771.1",
"protein_id": "ENSP00000502627.1",
"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": 3031,
"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": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "n.-308G>A",
"hgvs_p": null,
"transcript": "ENST00000674784.1",
"protein_id": "ENSP00000501837.1",
"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": 2931,
"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": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "n.-308G>A",
"hgvs_p": null,
"transcript": "ENST00000675224.1",
"protein_id": "ENSP00000501869.1",
"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": 3129,
"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": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "n.-308G>A",
"hgvs_p": null,
"transcript": "ENST00000675641.1",
"protein_id": "ENSP00000501845.1",
"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": 3130,
"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": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "n.-308G>A",
"hgvs_p": null,
"transcript": "ENST00000676336.1",
"protein_id": "ENSP00000502686.1",
"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": 2941,
"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": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "n.-308G>A",
"hgvs_p": null,
"transcript": "ENST00000676349.1",
"protein_id": "ENSP00000502155.1",
"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,
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"cdna_length": 3314,
"mane_select": null,
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"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": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "n.41G>A",
"hgvs_p": null,
"transcript": "NR_168891.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "n.41G>A",
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"transcript": "NR_168892.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.-308G>A",
"hgvs_p": null,
"transcript": "ENST00000676170.1",
"protein_id": "ENSP00000502177.1",
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 1,
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"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.-1325G>A",
"hgvs_p": null,
"transcript": "NM_001384142.1",
"protein_id": "NP_001371071.1",
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},
{
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"strand": true,
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"5_prime_UTR_variant"
],
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"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.-567G>A",
"hgvs_p": null,
"transcript": "NM_138361.5",
"protein_id": "NP_612370.3",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.-567G>A",
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"transcript": "ENST00000323301.8",
"protein_id": "ENSP00000322937.4",
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},
{
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],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "LRSAM1",
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"hgvs_c": "c.-298G>A",
"hgvs_p": null,
"transcript": "ENST00000675448.1",
"protein_id": "ENSP00000502167.1",
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},
{
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"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.-308G>A",
"hgvs_p": null,
"transcript": "NM_001190723.3",
"protein_id": "NP_001177652.1",
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"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "LRSAM1",
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"hgvs_c": "c.-308G>A",
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"transcript": "ENST00000373324.8",
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],
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"gene_symbol": "LRSAM1",
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"hgvs_c": "c.-308G>A",
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},
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],
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"gene_symbol": "LRSAM1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 1,
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"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.-308G>A",
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"transcript": "ENST00000675572.1",
"protein_id": "ENSP00000501598.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "c.-308G>A",
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"transcript": "ENST00000675789.1",
"protein_id": "ENSP00000501954.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"hgvs_c": "n.-567G>A",
"hgvs_p": null,
"transcript": "ENST00000676318.1",
"protein_id": "ENSP00000502300.1",
"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": 5283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LRSAM1",
"gene_hgnc_id": 25135,
"dbsnp": "rs3808832",
"frequency_reference_population": 0.00028078372,
"hom_count_reference_population": 1,
"allele_count_reference_population": 163,
"gnomad_exomes_af": 0.000378331,
"gnomad_genomes_af": 0.00000656504,
"gnomad_exomes_ac": 162,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4000000059604645,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.023,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS1_Supporting",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_001005373.4",
"gene_symbol": "LRSAM1",
"hgnc_id": 25135,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.-308G>A",
"hgvs_p": null
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_000976.4",
"gene_symbol": "RPL12",
"hgnc_id": 10302,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-233C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease axonal type 2P",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Charcot-Marie-Tooth disease axonal type 2P",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}