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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: 2-144400257-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=144400257&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 144400257,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_014795.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Tyr310Tyr",
"transcript": "NM_014795.4",
"protein_id": "NP_055610.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1214,
"cds_start": 930,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000627532.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014795.4"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Tyr310Tyr",
"transcript": "ENST00000627532.3",
"protein_id": "ENSP00000487174.1",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 1214,
"cds_start": 930,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014795.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627532.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Tyr310Tyr",
"transcript": "ENST00000558170.6",
"protein_id": "ENSP00000454157.1",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 1214,
"cds_start": 930,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558170.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.927C>T",
"hgvs_p": "p.Tyr309Tyr",
"transcript": "ENST00000303660.8",
"protein_id": "ENSP00000302501.4",
"transcript_support_level": 1,
"aa_start": 309,
"aa_end": null,
"aa_length": 1213,
"cds_start": 927,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303660.8"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.1017C>T",
"hgvs_p": "p.Tyr339Tyr",
"transcript": "ENST00000427902.5",
"protein_id": "ENSP00000395496.2",
"transcript_support_level": 1,
"aa_start": 339,
"aa_end": null,
"aa_length": 730,
"cds_start": 1017,
"cds_end": null,
"cds_length": 2194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427902.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.1014C>T",
"hgvs_p": "p.Tyr338Tyr",
"transcript": "ENST00000392861.6",
"protein_id": "ENSP00000376601.3",
"transcript_support_level": 1,
"aa_start": 338,
"aa_end": null,
"aa_length": 466,
"cds_start": 1014,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392861.6"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.1005C>T",
"hgvs_p": "p.Tyr335Tyr",
"transcript": "ENST00000636471.1",
"protein_id": "ENSP00000490317.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 1239,
"cds_start": 1005,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636471.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Tyr310Tyr",
"transcript": "ENST00000409487.7",
"protein_id": "ENSP00000386854.2",
"transcript_support_level": 5,
"aa_start": 310,
"aa_end": null,
"aa_length": 1214,
"cds_start": 930,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409487.7"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Tyr310Tyr",
"transcript": "ENST00000886176.1",
"protein_id": "ENSP00000556235.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1214,
"cds_start": 930,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886176.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Tyr310Tyr",
"transcript": "ENST00000886177.1",
"protein_id": "ENSP00000556236.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1214,
"cds_start": 930,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886177.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Tyr310Tyr",
"transcript": "ENST00000886179.1",
"protein_id": "ENSP00000556238.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1214,
"cds_start": 930,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886179.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Tyr310Tyr",
"transcript": "ENST00000965901.1",
"protein_id": "ENSP00000635960.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1214,
"cds_start": 930,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965901.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Tyr310Tyr",
"transcript": "ENST00000965902.1",
"protein_id": "ENSP00000635961.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1214,
"cds_start": 930,
"cds_end": null,
"cds_length": 3645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965902.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Tyr310Tyr",
"transcript": "ENST00000636026.2",
"protein_id": "ENSP00000490776.1",
"transcript_support_level": 5,
"aa_start": 310,
"aa_end": null,
"aa_length": 1202,
"cds_start": 930,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636026.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.858C>T",
"hgvs_p": "p.Tyr286Tyr",
"transcript": "NM_001171653.2",
"protein_id": "NP_001165124.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 1190,
"cds_start": 858,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171653.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.858C>T",
"hgvs_p": "p.Tyr286Tyr",
"transcript": "ENST00000539609.7",
"protein_id": "ENSP00000443792.2",
"transcript_support_level": 2,
"aa_start": 286,
"aa_end": null,
"aa_length": 1190,
"cds_start": 858,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539609.7"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.858C>T",
"hgvs_p": "p.Tyr286Tyr",
"transcript": "ENST00000886178.1",
"protein_id": "ENSP00000556237.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 1190,
"cds_start": 858,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886178.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.594C>T",
"hgvs_p": "p.Tyr198Tyr",
"transcript": "ENST00000636413.1",
"protein_id": "ENSP00000490508.1",
"transcript_support_level": 5,
"aa_start": 198,
"aa_end": null,
"aa_length": 1102,
"cds_start": 594,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636413.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.594C>T",
"hgvs_p": "p.Tyr198Tyr",
"transcript": "ENST00000637045.1",
"protein_id": "ENSP00000490141.1",
"transcript_support_level": 5,
"aa_start": 198,
"aa_end": null,
"aa_length": 1102,
"cds_start": 594,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637045.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.594C>T",
"hgvs_p": "p.Tyr198Tyr",
"transcript": "ENST00000637304.1",
"protein_id": "ENSP00000490872.1",
"transcript_support_level": 5,
"aa_start": 198,
"aa_end": null,
"aa_length": 1102,
"cds_start": 594,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637304.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.594C>T",
"hgvs_p": "p.Tyr198Tyr",
"transcript": "ENST00000638007.1",
"protein_id": "ENSP00000490723.1",
"transcript_support_level": 5,
"aa_start": 198,
"aa_end": null,
"aa_length": 1102,
"cds_start": 594,
"cds_end": null,
"cds_length": 3309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638007.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.153C>T",
"hgvs_p": "p.Tyr51Tyr",
"transcript": "ENST00000440875.6",
"protein_id": "ENSP00000475553.3",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 955,
"cds_start": 153,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
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],
"gene_symbol": "ZEB2",
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"dbsnp": "rs6711223",
"frequency_reference_population": 0.0026969246,
"hom_count_reference_population": 53,
"allele_count_reference_population": 4342,
"gnomad_exomes_af": 0.00189893,
"gnomad_genomes_af": 0.0103338,
"gnomad_exomes_ac": 2768,
"gnomad_genomes_ac": 1574,
"gnomad_exomes_homalt": 27,
"gnomad_genomes_homalt": 26,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6399999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.222,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_014795.4",
"gene_symbol": "ZEB2",
"hgnc_id": 14881,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.930C>T",
"hgvs_p": "p.Tyr310Tyr"
}
],
"clinvar_disease": "Inborn genetic diseases,Mowat-Wilson syndrome,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:8",
"phenotype_combined": "not specified|not provided|Inborn genetic diseases|Mowat-Wilson syndrome",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}