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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: 3-172769064-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=172769064&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 172769064,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000392692.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1349A>C",
"hgvs_p": "p.Gln450Pro",
"transcript": "NM_001258315.2",
"protein_id": "NP_001245244.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 914,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 4136,
"mane_select": "ENST00000392692.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1349A>C",
"hgvs_p": "p.Gln450Pro",
"transcript": "ENST00000392692.8",
"protein_id": "ENSP00000376457.3",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 914,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 4136,
"mane_select": "NM_001258315.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1256A>C",
"hgvs_p": "p.Gln419Pro",
"transcript": "ENST00000232458.9",
"protein_id": "ENSP00000232458.5",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 883,
"cds_start": 1256,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 4087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1256A>C",
"hgvs_p": "p.Gln419Pro",
"transcript": "ENST00000441497.6",
"protein_id": "ENSP00000412259.2",
"transcript_support_level": 1,
"aa_start": 419,
"aa_end": null,
"aa_length": 883,
"cds_start": 1256,
"cds_end": null,
"cds_length": 2652,
"cdna_start": 1330,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1253A>C",
"hgvs_p": "p.Gln418Pro",
"transcript": "ENST00000417960.5",
"protein_id": "ENSP00000415876.1",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 882,
"cds_start": 1253,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 1730,
"cdna_end": null,
"cdna_length": 4363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1349A>C",
"hgvs_p": "p.Gln450Pro",
"transcript": "NM_001349094.2",
"protein_id": "NP_001336023.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 958,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 4690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1349A>C",
"hgvs_p": "p.Gln450Pro",
"transcript": "NM_001349095.2",
"protein_id": "NP_001336024.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 958,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 4403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1349A>C",
"hgvs_p": "p.Gln450Pro",
"transcript": "NM_001349096.2",
"protein_id": "NP_001336025.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 958,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2877,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 4386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1346A>C",
"hgvs_p": "p.Gln449Pro",
"transcript": "NM_001349097.2",
"protein_id": "NP_001336026.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 957,
"cds_start": 1346,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 1823,
"cdna_end": null,
"cdna_length": 4723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1256A>C",
"hgvs_p": "p.Gln419Pro",
"transcript": "NM_001349101.2",
"protein_id": "NP_001336030.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 927,
"cds_start": 1256,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 1716,
"cdna_end": null,
"cdna_length": 4616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1349A>C",
"hgvs_p": "p.Gln450Pro",
"transcript": "NM_001349098.2",
"protein_id": "NP_001336027.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 914,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1349A>C",
"hgvs_p": "p.Gln450Pro",
"transcript": "NM_001349099.2",
"protein_id": "NP_001336028.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 914,
"cds_start": 1349,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 4119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1349A>C",
"hgvs_p": "p.Gln450Pro",
"transcript": "NM_001349100.2",
"protein_id": "NP_001336029.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 914,
"cds_start": 1349,
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"cdna_start": 1809,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1256A>C",
"hgvs_p": "p.Gln419Pro",
"transcript": "NM_001258316.2",
"protein_id": "NP_001245245.1",
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"cdna_start": 1733,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1256A>C",
"hgvs_p": "p.Gln419Pro",
"transcript": "NM_018098.6",
"protein_id": "NP_060568.3",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 883,
"cds_start": 1256,
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"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 4043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1256A>C",
"hgvs_p": "p.Gln419Pro",
"transcript": "ENST00000540509.5",
"protein_id": "ENSP00000443160.2",
"transcript_support_level": 5,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1253A>C",
"hgvs_p": "p.Gln418Pro",
"transcript": "NM_001349102.2",
"protein_id": "NP_001336031.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 882,
"cds_start": 1253,
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"cdna_start": 1730,
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"cdna_length": 4363,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1169A>C",
"hgvs_p": "p.Gln390Pro",
"transcript": "NM_001349103.2",
"protein_id": "NP_001336032.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 854,
"cds_start": 1169,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1323,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1169A>C",
"hgvs_p": "p.Gln390Pro",
"transcript": "NM_001349104.2",
"protein_id": "NP_001336033.1",
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"feature": null
},
{
"aa_ref": "Q",
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"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.275A>C",
"hgvs_p": "p.Gln92Pro",
"transcript": "ENST00000444250.1",
"protein_id": "ENSP00000411674.1",
"transcript_support_level": 3,
"aa_start": 92,
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"cds_start": 275,
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"cdna_start": 277,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1349A>C",
"hgvs_p": "p.Gln450Pro",
"transcript": "XM_047447607.1",
"protein_id": "XP_047303563.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 958,
"cds_start": 1349,
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"cdna_start": 1826,
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"cdna_length": 3399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
"hgvs_c": "c.1349A>C",
"hgvs_p": "p.Gln450Pro",
"transcript": "XM_047447608.1",
"protein_id": "XP_047303564.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 958,
"cds_start": 1349,
"cds_end": null,
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"cdna_start": 1809,
"cdna_end": null,
"cdna_length": 3382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECT2",
"gene_hgnc_id": 3155,
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{
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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
}