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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: 7-148807692-T-TCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=148807692&ref=T&alt=TCA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 148807692,
"ref": "T",
"alt": "TCA",
"effect": "frameshift_variant",
"transcript": "NM_004456.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2208_2209dupTG",
"hgvs_p": "p.Asp737fs",
"transcript": "NM_004456.5",
"protein_id": "NP_004447.2",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 751,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2344,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": "ENST00000320356.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2208_2209dupTG",
"hgvs_p": "p.Asp737fs",
"transcript": "ENST00000320356.7",
"protein_id": "ENSP00000320147.2",
"transcript_support_level": 1,
"aa_start": 737,
"aa_end": null,
"aa_length": 751,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2256,
"cdna_start": 2344,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": "NM_004456.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2193_2194dupTG",
"hgvs_p": "p.Asp732fs",
"transcript": "ENST00000460911.5",
"protein_id": "ENSP00000419711.1",
"transcript_support_level": 1,
"aa_start": 732,
"aa_end": null,
"aa_length": 746,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2283,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2076_2077dupTG",
"hgvs_p": "p.Asp693fs",
"transcript": "ENST00000350995.6",
"protein_id": "ENSP00000223193.2",
"transcript_support_level": 1,
"aa_start": 693,
"aa_end": null,
"aa_length": 707,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 2477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2193_2194dupTG",
"hgvs_p": "p.Asp732fs",
"transcript": "NM_001203247.2",
"protein_id": "NP_001190176.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 746,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2329,
"cdna_end": null,
"cdna_length": 2639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2166_2167dupTG",
"hgvs_p": "p.Asp723fs",
"transcript": "NM_001203248.2",
"protein_id": "NP_001190177.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 737,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2302,
"cdna_end": null,
"cdna_length": 2612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2166_2167dupTG",
"hgvs_p": "p.Asp723fs",
"transcript": "ENST00000483967.5",
"protein_id": "ENSP00000419856.1",
"transcript_support_level": 2,
"aa_start": 723,
"aa_end": null,
"aa_length": 737,
"cds_start": 2167,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 2298,
"cdna_end": null,
"cdna_length": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2076_2077dupTG",
"hgvs_p": "p.Asp693fs",
"transcript": "NM_152998.3",
"protein_id": "NP_694543.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 707,
"cds_start": 2077,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2212,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2040_2041dupTG",
"hgvs_p": "p.Asp681fs",
"transcript": "NM_001203249.2",
"protein_id": "NP_001190178.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 695,
"cds_start": 2041,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2337,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2040_2041dupTG",
"hgvs_p": "p.Asp681fs",
"transcript": "ENST00000476773.5",
"protein_id": "ENSP00000419050.1",
"transcript_support_level": 2,
"aa_start": 681,
"aa_end": null,
"aa_length": 695,
"cds_start": 2041,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2361,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2040_2041dupTG",
"hgvs_p": "p.Asp681fs",
"transcript": "ENST00000478654.5",
"protein_id": "ENSP00000417062.1",
"transcript_support_level": 5,
"aa_start": 681,
"aa_end": null,
"aa_length": 695,
"cds_start": 2041,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2213,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2232_2233dupTG",
"hgvs_p": "p.Asp745fs",
"transcript": "XM_011515883.3",
"protein_id": "XP_011514185.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 759,
"cds_start": 2233,
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"cds_length": 2280,
"cdna_start": 2377,
"cdna_end": null,
"cdna_length": 2687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2232_2233dupTG",
"hgvs_p": "p.Asp745fs",
"transcript": "XM_017011817.3",
"protein_id": "XP_016867306.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 759,
"cds_start": 2233,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 12092,
"cdna_end": null,
"cdna_length": 12402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2232_2233dupTG",
"hgvs_p": "p.Asp745fs",
"transcript": "XM_047419989.1",
"protein_id": "XP_047275945.1",
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"aa_start": 745,
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"cds_start": 2233,
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"cdna_start": 2577,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2217_2218dupTG",
"hgvs_p": "p.Asp740fs",
"transcript": "XM_005249962.5",
"protein_id": "XP_005250019.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 754,
"cds_start": 2218,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2562,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2217_2218dupTG",
"hgvs_p": "p.Asp740fs",
"transcript": "XM_047419990.1",
"protein_id": "XP_047275946.1",
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"aa_start": 740,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2208_2209dupTG",
"hgvs_p": "p.Asp737fs",
"transcript": "XM_047419991.1",
"protein_id": "XP_047275947.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 751,
"cds_start": 2209,
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"cdna_start": 2332,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2205_2206dupTG",
"hgvs_p": "p.Asp736fs",
"transcript": "XM_011515885.3",
"protein_id": "XP_011514187.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 750,
"cds_start": 2206,
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"cdna_start": 12065,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2193_2194dupTG",
"hgvs_p": "p.Asp732fs",
"transcript": "XM_047419992.1",
"protein_id": "XP_047275948.1",
"transcript_support_level": null,
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"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2190_2191dupTG",
"hgvs_p": "p.Asp731fs",
"transcript": "XM_005249963.5",
"protein_id": "XP_005250020.1",
"transcript_support_level": null,
"aa_start": 731,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2190_2191dupTG",
"hgvs_p": "p.Asp731fs",
"transcript": "XM_047419993.1",
"protein_id": "XP_047275949.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 745,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2348,
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"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZH2",
"gene_hgnc_id": 3527,
"hgvs_c": "c.2190_2191dupTG",
"hgvs_p": "p.Asp731fs",
"transcript": "XM_047419994.1",
"protein_id": "XP_047275950.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 745,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2427,
"cdna_end": null,
"cdna_length": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
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{
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],
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Weaver syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}