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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: 21-32631493-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32631493&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 32631493,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_003895.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.4083C>T",
"hgvs_p": "p.Asp1361Asp",
"transcript": "ENST00000630077.3",
"protein_id": "ENSP00000487560.1",
"transcript_support_level": 1,
"aa_start": 1361,
"aa_end": null,
"aa_length": 1526,
"cds_start": 4083,
"cds_end": null,
"cds_length": 4581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630077.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.*312C>T",
"hgvs_p": null,
"transcript": "NM_203446.3",
"protein_id": "NP_982271.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1311,
"cds_start": null,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000674351.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_203446.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.*312C>T",
"hgvs_p": null,
"transcript": "ENST00000674351.1",
"protein_id": "ENSP00000501530.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1311,
"cds_start": null,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_203446.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674351.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.4341C>T",
"hgvs_p": "p.Asp1447Asp",
"transcript": "NM_003895.4",
"protein_id": "NP_003886.3",
"transcript_support_level": null,
"aa_start": 1447,
"aa_end": null,
"aa_length": 1612,
"cds_start": 4341,
"cds_end": null,
"cds_length": 4839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003895.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.4224C>T",
"hgvs_p": "p.Asp1408Asp",
"transcript": "ENST00000674308.1",
"protein_id": "ENSP00000501426.1",
"transcript_support_level": null,
"aa_start": 1408,
"aa_end": null,
"aa_length": 1573,
"cds_start": 4224,
"cds_end": null,
"cds_length": 4722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674308.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.4083C>T",
"hgvs_p": "p.Asp1361Asp",
"transcript": "NM_001160306.2",
"protein_id": "NP_001153778.1",
"transcript_support_level": null,
"aa_start": 1361,
"aa_end": null,
"aa_length": 1526,
"cds_start": 4083,
"cds_end": null,
"cds_length": 4581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160306.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.4326C>T",
"hgvs_p": "p.Asp1442Asp",
"transcript": "XM_017028495.3",
"protein_id": "XP_016883984.1",
"transcript_support_level": null,
"aa_start": 1442,
"aa_end": null,
"aa_length": 1607,
"cds_start": 4326,
"cds_end": null,
"cds_length": 4824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028495.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.4302C>T",
"hgvs_p": "p.Asp1434Asp",
"transcript": "XM_047441034.1",
"protein_id": "XP_047296990.1",
"transcript_support_level": null,
"aa_start": 1434,
"aa_end": null,
"aa_length": 1599,
"cds_start": 4302,
"cds_end": null,
"cds_length": 4800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441034.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.4293C>T",
"hgvs_p": "p.Asp1431Asp",
"transcript": "XM_017028497.3",
"protein_id": "XP_016883986.1",
"transcript_support_level": null,
"aa_start": 1431,
"aa_end": null,
"aa_length": 1596,
"cds_start": 4293,
"cds_end": null,
"cds_length": 4791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028497.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.4263C>T",
"hgvs_p": "p.Asp1421Asp",
"transcript": "XM_047441035.1",
"protein_id": "XP_047296991.1",
"transcript_support_level": null,
"aa_start": 1421,
"aa_end": null,
"aa_length": 1586,
"cds_start": 4263,
"cds_end": null,
"cds_length": 4761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441035.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.4239C>T",
"hgvs_p": "p.Asp1413Asp",
"transcript": "XM_047441036.1",
"protein_id": "XP_047296992.1",
"transcript_support_level": null,
"aa_start": 1413,
"aa_end": null,
"aa_length": 1578,
"cds_start": 4239,
"cds_end": null,
"cds_length": 4737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441036.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.4224C>T",
"hgvs_p": "p.Asp1408Asp",
"transcript": "XM_047441037.1",
"protein_id": "XP_047296993.1",
"transcript_support_level": null,
"aa_start": 1408,
"aa_end": null,
"aa_length": 1573,
"cds_start": 4224,
"cds_end": null,
"cds_length": 4722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441037.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.4200C>T",
"hgvs_p": "p.Asp1400Asp",
"transcript": "XM_017028499.3",
"protein_id": "XP_016883988.1",
"transcript_support_level": null,
"aa_start": 1400,
"aa_end": null,
"aa_length": 1565,
"cds_start": 4200,
"cds_end": null,
"cds_length": 4698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028499.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.4191C>T",
"hgvs_p": "p.Asp1397Asp",
"transcript": "XM_047441038.1",
"protein_id": "XP_047296994.1",
"transcript_support_level": null,
"aa_start": 1397,
"aa_end": null,
"aa_length": 1562,
"cds_start": 4191,
"cds_end": null,
"cds_length": 4689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441038.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.4122C>T",
"hgvs_p": "p.Asp1374Asp",
"transcript": "XM_047441039.1",
"protein_id": "XP_047296995.1",
"transcript_support_level": null,
"aa_start": 1374,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4122,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441039.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.4107C>T",
"hgvs_p": "p.Asp1369Asp",
"transcript": "XM_047441040.1",
"protein_id": "XP_047296996.1",
"transcript_support_level": null,
"aa_start": 1369,
"aa_end": null,
"aa_length": 1534,
"cds_start": 4107,
"cds_end": null,
"cds_length": 4605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441040.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.3729C>T",
"hgvs_p": "p.Asp1243Asp",
"transcript": "XM_047441041.1",
"protein_id": "XP_047296997.1",
"transcript_support_level": null,
"aa_start": 1243,
"aa_end": null,
"aa_length": 1408,
"cds_start": 3729,
"cds_end": null,
"cds_length": 4227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441041.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.*312C>T",
"hgvs_p": null,
"transcript": "ENST00000674204.1",
"protein_id": "ENSP00000501504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1311,
"cds_start": null,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674204.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.*312C>T",
"hgvs_p": null,
"transcript": "NM_001160302.2",
"protein_id": "NP_001153774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1295,
"cds_start": null,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160302.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.*312C>T",
"hgvs_p": null,
"transcript": "ENST00000357345.8",
"protein_id": "ENSP00000349903.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1295,
"cds_start": null,
"cds_end": null,
"cds_length": 3888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357345.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.*312C>T",
"hgvs_p": null,
"transcript": "ENST00000902244.1",
"protein_id": "ENSP00000572303.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1282,
"cds_start": null,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902244.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ1",
"gene_hgnc_id": 11503,
"hgvs_c": "c.*312C>T",
"hgvs_p": null,
"transcript": "ENST00000963072.1",
"protein_id": "ENSP00000633131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1282,
"cds_start": null,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"computational_score_selected": -0.550000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.244,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
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"BP6_Moderate",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_003895.4",
"gene_symbol": "SYNJ1",
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"effects": [
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],
"inheritance_mode": "AR,AD",
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}
],
"clinvar_disease": " 53,Developmental and epileptic encephalopathy,Early-onset Parkinson disease 20",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Developmental and epileptic encephalopathy, 53;Early-onset Parkinson disease 20",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}