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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: 3-94036747-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=94036747&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 94036747,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000394222.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.682G>C",
"hgvs_p": "p.Glu228Gln",
"transcript": "NM_001174150.2",
"protein_id": "NP_001167621.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 428,
"cds_start": 682,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 3971,
"mane_select": "ENST00000394222.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.682G>C",
"hgvs_p": "p.Glu228Gln",
"transcript": "ENST00000394222.8",
"protein_id": "ENSP00000377769.3",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 428,
"cds_start": 682,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 3971,
"mane_select": "NM_001174150.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.682G>C",
"hgvs_p": "p.Glu228Gln",
"transcript": "ENST00000471138.5",
"protein_id": "ENSP00000420780.1",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 428,
"cds_start": 682,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.373G>C",
"hgvs_p": "p.Glu125Gln",
"transcript": "ENST00000535334.5",
"protein_id": "ENSP00000445145.1",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 325,
"cds_start": 373,
"cds_end": null,
"cds_length": 978,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 3906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.361G>C",
"hgvs_p": "p.Glu121Gln",
"transcript": "ENST00000303097.11",
"protein_id": "ENSP00000306225.7",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 321,
"cds_start": 361,
"cds_end": null,
"cds_length": 966,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 3264,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*534G>C",
"hgvs_p": null,
"transcript": "ENST00000335438.7",
"protein_id": "ENSP00000335400.3",
"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": 3659,
"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": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*155G>C",
"hgvs_p": null,
"transcript": "ENST00000460371.5",
"protein_id": "ENSP00000417263.1",
"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": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*534G>C",
"hgvs_p": null,
"transcript": "ENST00000335438.7",
"protein_id": "ENSP00000335400.3",
"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": 3659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "n.*155G>C",
"hgvs_p": null,
"transcript": "ENST00000460371.5",
"protein_id": "ENSP00000417263.1",
"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": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.682G>C",
"hgvs_p": "p.Glu228Gln",
"transcript": "ENST00000681380.1",
"protein_id": "ENSP00000505402.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 457,
"cds_start": 682,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.682G>C",
"hgvs_p": "p.Glu228Gln",
"transcript": "NM_182896.3",
"protein_id": "NP_878899.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 428,
"cds_start": 682,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 3815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.637G>C",
"hgvs_p": "p.Glu213Gln",
"transcript": "NM_001321328.2",
"protein_id": "NP_001308257.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 413,
"cds_start": 637,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.631G>C",
"hgvs_p": "p.Glu211Gln",
"transcript": "ENST00000679872.1",
"protein_id": "ENSP00000505607.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 411,
"cds_start": 631,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.682G>C",
"hgvs_p": "p.Glu228Gln",
"transcript": "NM_001410782.1",
"protein_id": "NP_001397711.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 405,
"cds_start": 682,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 3902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.682G>C",
"hgvs_p": "p.Glu228Gln",
"transcript": "ENST00000679587.1",
"protein_id": "ENSP00000505396.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 405,
"cds_start": 682,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Glu203Gln",
"transcript": "ENST00000679404.1",
"protein_id": "ENSP00000505252.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 403,
"cds_start": 607,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 3787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Glu203Gln",
"transcript": "ENST00000681655.1",
"protein_id": "ENSP00000505036.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 403,
"cds_start": 607,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 3454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.373G>C",
"hgvs_p": "p.Glu125Gln",
"transcript": "NM_001174151.2",
"protein_id": "NP_001167622.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 325,
"cds_start": 373,
"cds_end": null,
"cds_length": 978,
"cdna_start": 880,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.361G>C",
"hgvs_p": "p.Glu121Gln",
"transcript": "NM_144996.4",
"protein_id": "NP_659433.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 321,
"cds_start": 361,
"cds_end": null,
"cds_length": 966,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.310G>C",
"hgvs_p": "p.Glu104Gln",
"transcript": "ENST00000679666.1",
"protein_id": "ENSP00000506469.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 304,
"cds_start": 310,
"cds_end": null,
"cds_length": 915,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 3455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.361G>C",
"hgvs_p": "p.Glu121Gln",
"transcript": "NM_001437443.1",
"protein_id": "NP_001424372.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 298,
"cds_start": 361,
"cds_end": null,
"cds_length": 897,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.361G>C",
"hgvs_p": "p.Glu121Gln",
"transcript": "ENST00000486562.2",
"protein_id": "ENSP00000505366.1",
"transcript_support_level": 3,
"aa_start": 121,
"aa_end": null,
"aa_length": 298,
"cds_start": 361,
"cds_end": null,
"cds_length": 897,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 1434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"hgvs_c": "c.646G>C",
"hgvs_p": "p.Glu216Gln",
"transcript": "XM_011512532.3",
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"protein_id": "ENSP00000505494.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 76,
"cds_start": -4,
"cds_end": null,
"cds_length": 231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARL13B",
"gene_hgnc_id": 25419,
"dbsnp": "rs752848590",
"frequency_reference_population": 0.000004349112,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000205851,
"gnomad_genomes_af": 0.0000262878,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.37225478887557983,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.145,
"revel_prediction": "Benign",
"alphamissense_score": 0.1038,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.422,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000394222.8",
"gene_symbol": "ARL13B",
"hgnc_id": 25419,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.682G>C",
"hgvs_p": "p.Glu228Gln"
}
],
"clinvar_disease": "Inborn genetic diseases,Joubert syndrome 8",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Inborn genetic diseases|Joubert syndrome 8",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}