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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: 16-70252896-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70252896&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 70252896,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000261772.13",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2732A>G",
"hgvs_p": "p.Asn911Ser",
"transcript": "NM_001605.3",
"protein_id": "NP_001596.2",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 968,
"cds_start": 2732,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 2839,
"cdna_end": null,
"cdna_length": 3437,
"mane_select": "ENST00000261772.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2732A>G",
"hgvs_p": "p.Asn911Ser",
"transcript": "ENST00000261772.13",
"protein_id": "ENSP00000261772.8",
"transcript_support_level": 1,
"aa_start": 911,
"aa_end": null,
"aa_length": 968,
"cds_start": 2732,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 2839,
"cdna_end": null,
"cdna_length": 3437,
"mane_select": "NM_001605.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2825A>G",
"hgvs_p": "p.Asn942Ser",
"transcript": "ENST00000565361.3",
"protein_id": "ENSP00000455360.3",
"transcript_support_level": 5,
"aa_start": 942,
"aa_end": null,
"aa_length": 999,
"cds_start": 2825,
"cds_end": null,
"cds_length": 3000,
"cdna_start": 2983,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2780A>G",
"hgvs_p": "p.Asn927Ser",
"transcript": "ENST00000675853.1",
"protein_id": "ENSP00000502367.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 984,
"cds_start": 2780,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 2938,
"cdna_end": null,
"cdna_length": 3527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2759A>G",
"hgvs_p": "p.Asn920Ser",
"transcript": "ENST00000675045.1",
"protein_id": "ENSP00000502014.1",
"transcript_support_level": null,
"aa_start": 920,
"aa_end": null,
"aa_length": 977,
"cds_start": 2759,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 2917,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2732A>G",
"hgvs_p": "p.Asn911Ser",
"transcript": "ENST00000674691.1",
"protein_id": "ENSP00000502247.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 968,
"cds_start": 2732,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 2868,
"cdna_end": null,
"cdna_length": 3494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2732A>G",
"hgvs_p": "p.Asn911Ser",
"transcript": "ENST00000674963.1",
"protein_id": "ENSP00000501924.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 968,
"cds_start": 2732,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 2804,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2732A>G",
"hgvs_p": "p.Asn911Ser",
"transcript": "ENST00000675643.1",
"protein_id": "ENSP00000502797.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 968,
"cds_start": 2732,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 2855,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2711A>G",
"hgvs_p": "p.Asn904Ser",
"transcript": "ENST00000674512.1",
"protein_id": "ENSP00000501613.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 961,
"cds_start": 2711,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 2867,
"cdna_end": null,
"cdna_length": 3458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2705A>G",
"hgvs_p": "p.Asn902Ser",
"transcript": "ENST00000675133.1",
"protein_id": "ENSP00000502230.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 959,
"cds_start": 2705,
"cds_end": null,
"cds_length": 2880,
"cdna_start": 2861,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2648A>G",
"hgvs_p": "p.Asn883Ser",
"transcript": "ENST00000675953.1",
"protein_id": "ENSP00000502321.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 940,
"cds_start": 2648,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2796,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2603A>G",
"hgvs_p": "p.Asn868Ser",
"transcript": "ENST00000675691.1",
"protein_id": "ENSP00000502196.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 925,
"cds_start": 2603,
"cds_end": null,
"cds_length": 2778,
"cdna_start": 2751,
"cdna_end": null,
"cdna_length": 3344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.1177A>G",
"hgvs_p": null,
"transcript": "ENST00000569825.2",
"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": 1763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.*2521A>G",
"hgvs_p": null,
"transcript": "ENST00000674652.1",
"protein_id": "ENSP00000502620.1",
"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": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.*1319A>G",
"hgvs_p": null,
"transcript": "ENST00000674768.1",
"protein_id": "ENSP00000501679.1",
"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": 3627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.*925A>G",
"hgvs_p": null,
"transcript": "ENST00000674811.1",
"protein_id": "ENSP00000502055.1",
"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": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.3113A>G",
"hgvs_p": null,
"transcript": "ENST00000674848.1",
"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": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.5418A>G",
"hgvs_p": null,
"transcript": "ENST00000674962.1",
"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": 6004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.*342A>G",
"hgvs_p": null,
"transcript": "ENST00000675035.1",
"protein_id": "ENSP00000502712.1",
"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": 3461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.*1042A>G",
"hgvs_p": null,
"transcript": "ENST00000675120.1",
"protein_id": "ENSP00000502823.1",
"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": 3472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.2867A>G",
"hgvs_p": null,
"transcript": "ENST00000675270.1",
"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": 3460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.*1998A>G",
"hgvs_p": null,
"transcript": "ENST00000675297.1",
"protein_id": "ENSP00000502753.1",
"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": 4348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "n.*674A>G",
"hgvs_p": null,
"transcript": "ENST00000675371.1",
"protein_id": "ENSP00000502645.1",
"transcript_support_level": null,
"aa_start": null,
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{
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{
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}
],
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"dbsnp": "rs746822330",
"frequency_reference_population": 0.00005824321,
"hom_count_reference_population": 0,
"allele_count_reference_population": 94,
"gnomad_exomes_af": 0.0000608813,
"gnomad_genomes_af": 0.0000328813,
"gnomad_exomes_ac": 89,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04945692420005798,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.221,
"revel_prediction": "Benign",
"alphamissense_score": 0.0542,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.223,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000261772.13",
"gene_symbol": "AARS1",
"hgnc_id": 20,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.2732A>G",
"hgvs_p": "p.Asn911Ser"
}
],
"clinvar_disease": "AARS1-related disorder,Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease axonal type 2N,Charcot-Marie-Tooth disease type 2,Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:2",
"phenotype_combined": "Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease axonal type 2N|Charcot-Marie-Tooth disease|not provided|Inborn genetic diseases|AARS1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}