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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: 10-86452020-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=86452020&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 86452020,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015045.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.3061G>T",
"hgvs_p": "p.Asp1021Tyr",
"transcript": "NM_015045.5",
"protein_id": "NP_055860.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1190,
"cds_start": 3061,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000298767.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015045.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.3061G>T",
"hgvs_p": "p.Asp1021Tyr",
"transcript": "ENST00000298767.10",
"protein_id": "ENSP00000298767.4",
"transcript_support_level": 1,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1190,
"cds_start": 3061,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015045.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298767.10"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.3139G>T",
"hgvs_p": "p.Asp1047Tyr",
"transcript": "ENST00000920312.1",
"protein_id": "ENSP00000590371.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3139,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920312.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.3079G>T",
"hgvs_p": "p.Asp1027Tyr",
"transcript": "ENST00000910171.1",
"protein_id": "ENSP00000580230.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3079,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910171.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.3079G>T",
"hgvs_p": "p.Asp1027Tyr",
"transcript": "ENST00000920314.1",
"protein_id": "ENSP00000590373.1",
"transcript_support_level": null,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3079,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920314.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.3061G>T",
"hgvs_p": "p.Asp1021Tyr",
"transcript": "ENST00000910172.1",
"protein_id": "ENSP00000580231.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1190,
"cds_start": 3061,
"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": "ENST00000910172.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.3061G>T",
"hgvs_p": "p.Asp1021Tyr",
"transcript": "ENST00000910179.1",
"protein_id": "ENSP00000580238.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1190,
"cds_start": 3061,
"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": "ENST00000910179.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.3061G>T",
"hgvs_p": "p.Asp1021Tyr",
"transcript": "ENST00000920315.1",
"protein_id": "ENSP00000590374.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1190,
"cds_start": 3061,
"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": "ENST00000920315.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.3061G>T",
"hgvs_p": "p.Asp1021Tyr",
"transcript": "ENST00000960550.1",
"protein_id": "ENSP00000630609.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1190,
"cds_start": 3061,
"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": "ENST00000960550.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.3043G>T",
"hgvs_p": "p.Asp1015Tyr",
"transcript": "NM_001318328.2",
"protein_id": "NP_001305257.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318328.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.3043G>T",
"hgvs_p": "p.Asp1015Tyr",
"transcript": "ENST00000910169.1",
"protein_id": "ENSP00000580228.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910169.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.3043G>T",
"hgvs_p": "p.Asp1015Tyr",
"transcript": "ENST00000910177.1",
"protein_id": "ENSP00000580236.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910177.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.3043G>T",
"hgvs_p": "p.Asp1015Tyr",
"transcript": "ENST00000920313.1",
"protein_id": "ENSP00000590372.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3043,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920313.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.2938G>T",
"hgvs_p": "p.Asp980Tyr",
"transcript": "ENST00000960551.1",
"protein_id": "ENSP00000630610.1",
"transcript_support_level": null,
"aa_start": 980,
"aa_end": null,
"aa_length": 1149,
"cds_start": 2938,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960551.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.2926G>T",
"hgvs_p": "p.Asp976Tyr",
"transcript": "ENST00000960552.1",
"protein_id": "ENSP00000630611.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1145,
"cds_start": 2926,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960552.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.2908G>T",
"hgvs_p": "p.Asp970Tyr",
"transcript": "ENST00000910170.1",
"protein_id": "ENSP00000580229.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1139,
"cds_start": 2908,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910170.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.2908G>T",
"hgvs_p": "p.Asp970Tyr",
"transcript": "ENST00000910175.1",
"protein_id": "ENSP00000580234.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1139,
"cds_start": 2908,
"cds_end": null,
"cds_length": 3420,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910175.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.2890G>T",
"hgvs_p": "p.Asp964Tyr",
"transcript": "ENST00000910173.1",
"protein_id": "ENSP00000580232.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 1133,
"cds_start": 2890,
"cds_end": null,
"cds_length": 3402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910173.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.2833G>T",
"hgvs_p": "p.Asp945Tyr",
"transcript": "ENST00000910174.1",
"protein_id": "ENSP00000580233.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2833,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910174.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.2815G>T",
"hgvs_p": "p.Asp939Tyr",
"transcript": "ENST00000910178.1",
"protein_id": "ENSP00000580237.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 1108,
"cds_start": 2815,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910178.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.2662G>T",
"hgvs_p": "p.Asp888Tyr",
"transcript": "ENST00000910176.1",
"protein_id": "ENSP00000580235.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 1057,
"cds_start": 2662,
"cds_end": null,
"cds_length": 3174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910176.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "WAPL",
"gene_hgnc_id": 23293,
"hgvs_c": "c.807+1200G>T",
"hgvs_p": null,
"transcript": "ENST00000372075.2",
"protein_id": "ENSP00000361145.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": null,
"cds_end": null,
"cds_length": 1266,
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"biotype": "protein_coding",
"feature": "ENST00000372075.2"
}
],
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"allele_count_reference_population": 3,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11327296495437622,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.52,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015045.5",
"gene_symbol": "WAPL",
"hgnc_id": 23293,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3061G>T",
"hgvs_p": "p.Asp1021Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}