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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: 12-22474820-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=22474820&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 22474820,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001385322.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.1974A>C",
"hgvs_p": "p.Gln658His",
"transcript": "NM_001286176.2",
"protein_id": "NP_001273105.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 1051,
"cds_start": 1974,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 2226,
"cdna_end": null,
"cdna_length": 4585,
"mane_select": "ENST00000446597.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286176.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.1974A>C",
"hgvs_p": "p.Gln658His",
"transcript": "ENST00000446597.6",
"protein_id": "ENSP00000388756.1",
"transcript_support_level": 1,
"aa_start": 658,
"aa_end": null,
"aa_length": 1051,
"cds_start": 1974,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 2226,
"cdna_end": null,
"cdna_length": 4585,
"mane_select": "NM_001286176.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446597.6"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.1980A>C",
"hgvs_p": "p.Gln660His",
"transcript": "ENST00000536386.5",
"protein_id": "ENSP00000439392.1",
"transcript_support_level": 1,
"aa_start": 660,
"aa_end": null,
"aa_length": 1053,
"cds_start": 1980,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 2099,
"cdna_end": null,
"cdna_length": 3496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536386.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.1947A>C",
"hgvs_p": "p.Gln649His",
"transcript": "ENST00000396028.6",
"protein_id": "ENSP00000379345.2",
"transcript_support_level": 1,
"aa_start": 649,
"aa_end": null,
"aa_length": 1042,
"cds_start": 1947,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 2066,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396028.6"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.1974A>C",
"hgvs_p": "p.Gln658His",
"transcript": "ENST00000333957.8",
"protein_id": "ENSP00000334229.4",
"transcript_support_level": 1,
"aa_start": 658,
"aa_end": null,
"aa_length": 1000,
"cds_start": 1974,
"cds_end": null,
"cds_length": 3003,
"cdna_start": 2230,
"cdna_end": null,
"cdna_length": 4436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333957.8"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2238A>C",
"hgvs_p": "p.Gln746His",
"transcript": "ENST00000960574.1",
"protein_id": "ENSP00000630633.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 1139,
"cds_start": 2238,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 2280,
"cdna_end": null,
"cdna_length": 4630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960574.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2199A>C",
"hgvs_p": "p.Gln733His",
"transcript": "ENST00000906362.1",
"protein_id": "ENSP00000576421.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3381,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906362.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2199A>C",
"hgvs_p": "p.Gln733His",
"transcript": "ENST00000960568.1",
"protein_id": "ENSP00000630627.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1126,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3381,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 4774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960568.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2166A>C",
"hgvs_p": "p.Gln722His",
"transcript": "NM_001385322.1",
"protein_id": "NP_001372251.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2166,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 2418,
"cdna_end": null,
"cdna_length": 4777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385322.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2166A>C",
"hgvs_p": "p.Gln722His",
"transcript": "ENST00000906354.1",
"protein_id": "ENSP00000576413.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2166,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 2384,
"cdna_end": null,
"cdna_length": 4743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906354.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2166A>C",
"hgvs_p": "p.Gln722His",
"transcript": "ENST00000960569.1",
"protein_id": "ENSP00000630628.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2166,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 2527,
"cdna_end": null,
"cdna_length": 4877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960569.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2166A>C",
"hgvs_p": "p.Gln722His",
"transcript": "ENST00000960565.1",
"protein_id": "ENSP00000630624.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1105,
"cds_start": 2166,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 2551,
"cdna_end": null,
"cdna_length": 4876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960565.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2166A>C",
"hgvs_p": "p.Gln722His",
"transcript": "ENST00000906359.1",
"protein_id": "ENSP00000576418.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1098,
"cds_start": 2166,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 2236,
"cdna_end": null,
"cdna_length": 4544,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906359.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2013A>C",
"hgvs_p": "p.Gln671His",
"transcript": "NM_001385323.1",
"protein_id": "NP_001372252.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2013,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 2265,
"cdna_end": null,
"cdna_length": 4624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385323.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2166A>C",
"hgvs_p": "p.Gln722His",
"transcript": "ENST00000906352.1",
"protein_id": "ENSP00000576411.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2166,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 2394,
"cdna_end": null,
"cdna_length": 4600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906352.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2013A>C",
"hgvs_p": "p.Gln671His",
"transcript": "ENST00000906358.1",
"protein_id": "ENSP00000576417.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2013,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 2179,
"cdna_end": null,
"cdna_length": 4538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906358.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2166A>C",
"hgvs_p": "p.Gln722His",
"transcript": "ENST00000960566.1",
"protein_id": "ENSP00000630625.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2166,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 2541,
"cdna_end": null,
"cdna_length": 4738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960566.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2013A>C",
"hgvs_p": "p.Gln671His",
"transcript": "ENST00000960573.1",
"protein_id": "ENSP00000630632.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2013,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 4418,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960573.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2013A>C",
"hgvs_p": "p.Gln671His",
"transcript": "NM_001286175.2",
"protein_id": "NP_001273104.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 1054,
"cds_start": 2013,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 2265,
"cdna_end": null,
"cdna_length": 4594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286175.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.2013A>C",
"hgvs_p": "p.Gln671His",
"transcript": "ENST00000545552.5",
"protein_id": "ENSP00000443204.1",
"transcript_support_level": 2,
"aa_start": 671,
"aa_end": null,
"aa_length": 1054,
"cds_start": 2013,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 2215,
"cdna_end": null,
"cdna_length": 3471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545552.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.1980A>C",
"hgvs_p": "p.Gln660His",
"transcript": "NM_001286173.2",
"protein_id": "NP_001273102.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 1053,
"cds_start": 1980,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 2232,
"cdna_end": null,
"cdna_length": 4591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286173.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD5",
"gene_hgnc_id": 29062,
"hgvs_c": "c.1980A>C",
"hgvs_p": "p.Gln660His",
"transcript": "ENST00000960572.1",
"protein_id": "ENSP00000630631.1",
"transcript_support_level": null,
"aa_start": 660,
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}
],
"gene_symbol": "C2CD5",
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"dbsnp": null,
"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": 0.03473559021949768,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.127,
"revel_prediction": "Benign",
"alphamissense_score": 0.1303,
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"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.542,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001385322.1",
"gene_symbol": "C2CD5",
"hgnc_id": 29062,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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},
{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000661495.2",
"gene_symbol": "C2CD5-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.171+65413T>G",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}