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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: 11-33717392-AT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=33717392&ref=AT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 33717392,
"ref": "AT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000534312.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "NM_000611.6",
"protein_id": "NP_000602.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 128,
"cds_start": 146,
"cds_end": null,
"cds_length": 387,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 7563,
"mane_select": "ENST00000642928.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "ENST00000642928.2",
"protein_id": "ENSP00000494884.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 128,
"cds_start": 146,
"cds_end": null,
"cds_length": 387,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 7563,
"mane_select": "NM_000611.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000284969",
"gene_hgnc_id": null,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "ENST00000534312.5",
"protein_id": "ENSP00000432362.1",
"transcript_support_level": 3,
"aa_start": 49,
"aa_end": null,
"aa_length": 130,
"cds_start": 146,
"cds_end": null,
"cds_length": 393,
"cdna_start": 157,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "ENST00000395850.9",
"protein_id": "ENSP00000379191.3",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 128,
"cds_start": 146,
"cds_end": null,
"cds_length": 387,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 1970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "ENST00000415002.7",
"protein_id": "ENSP00000404822.2",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 128,
"cds_start": 146,
"cds_end": null,
"cds_length": 387,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 1143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "n.2219delA",
"hgvs_p": null,
"transcript": "ENST00000528987.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "NM_001127223.1",
"protein_id": "NP_001120695.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 128,
"cds_start": 146,
"cds_end": null,
"cds_length": 387,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 7785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "NM_001127225.2",
"protein_id": "NP_001120697.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 128,
"cds_start": 146,
"cds_end": null,
"cds_length": 387,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 7678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "NM_001127226.2",
"protein_id": "NP_001120698.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 128,
"cds_start": 146,
"cds_end": null,
"cds_length": 387,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 7613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "NM_001127227.2",
"protein_id": "NP_001120699.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 128,
"cds_start": 146,
"cds_end": null,
"cds_length": 387,
"cdna_start": 197,
"cdna_end": null,
"cdna_length": 7554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "NM_203329.3",
"protein_id": "NP_976074.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 128,
"cds_start": 146,
"cds_end": null,
"cds_length": 387,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 7679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "NM_203330.2",
"protein_id": "NP_976075.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 128,
"cds_start": 146,
"cds_end": null,
"cds_length": 387,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 7780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "NM_203331.3",
"protein_id": "NP_976076.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 128,
"cds_start": 146,
"cds_end": null,
"cds_length": 387,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 7608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "ENST00000351554.8",
"protein_id": "ENSP00000340210.3",
"transcript_support_level": 2,
"aa_start": 49,
"aa_end": null,
"aa_length": 128,
"cds_start": 146,
"cds_end": null,
"cds_length": 387,
"cdna_start": 307,
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"cdna_length": 678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "ENST00000437761.6",
"protein_id": "ENSP00000410182.2",
"transcript_support_level": 4,
"aa_start": 49,
"aa_end": null,
"aa_length": 128,
"cds_start": 146,
"cds_end": null,
"cds_length": 387,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "ENST00000445143.6",
"protein_id": "ENSP00000403511.2",
"transcript_support_level": 3,
"aa_start": 49,
"aa_end": null,
"aa_length": 128,
"cds_start": 146,
"cds_end": null,
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"cdna_start": 256,
"cdna_end": null,
"cdna_length": 825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "ENST00000527577.5",
"protein_id": "ENSP00000432942.1",
"transcript_support_level": 3,
"aa_start": 49,
"aa_end": null,
"aa_length": 128,
"cds_start": 146,
"cds_end": null,
"cds_length": 387,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "ENST00000651785.1",
"protein_id": "ENSP00000498879.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 128,
"cds_start": 146,
"cds_end": null,
"cds_length": 387,
"cdna_start": 367,
"cdna_end": null,
"cdna_length": 7724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "ENST00000652678.1",
"protein_id": "ENSP00000498448.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
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"cds_start": 146,
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"cdna_start": 200,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "ENST00000528700.2",
"protein_id": "ENSP00000434617.2",
"transcript_support_level": 2,
"aa_start": 49,
"aa_end": null,
"aa_length": 119,
"cds_start": 146,
"cds_end": null,
"cds_length": 360,
"cdna_start": 370,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "ENST00000533403.6",
"protein_id": "ENSP00000436737.1",
"transcript_support_level": 3,
"aa_start": 49,
"aa_end": null,
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"cds_start": 146,
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"cdna_start": 191,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "ENST00000643183.1",
"protein_id": "ENSP00000495784.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 119,
"cds_start": 146,
"cds_end": null,
"cds_length": 360,
"cdna_start": 251,
"cdna_end": null,
"cdna_length": 641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD59",
"gene_hgnc_id": 1689,
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs",
"transcript": "ENST00000652086.1",
"protein_id": "ENSP00000498387.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 114,
"cds_start": 146,
"cds_end": null,
"cds_length": 345,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 1351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
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},
{
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},
{
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},
{
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},
{
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}
],
"gene_symbol": "ENSG00000284969",
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"dbsnp": "rs587777149",
"frequency_reference_population": 6.845433e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84543e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.99,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000534312.5",
"gene_symbol": "ENSG00000284969",
"hgnc_id": null,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000642928.2",
"gene_symbol": "CD59",
"hgnc_id": 1689,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.146delA",
"hgvs_p": "p.Asp49fs"
}
],
"clinvar_disease": "Primary CD59 deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Primary CD59 deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}