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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: 2-200879629-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=200879629&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 200879629,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000392283.9",
"consequences": [
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.240+1792C>T",
"hgvs_p": null,
"transcript": "NM_130906.3",
"protein_id": "NP_570981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": -4,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1166,
"mane_select": "ENST00000392283.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.240+1792C>T",
"hgvs_p": null,
"transcript": "ENST00000392283.9",
"protein_id": "ENSP00000376107.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": -4,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1166,
"mane_select": "NM_130906.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.252+1792C>T",
"hgvs_p": null,
"transcript": "ENST00000286175.12",
"protein_id": "ENSP00000286175.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": -4,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "n.537+1792C>T",
"hgvs_p": null,
"transcript": "ENST00000465823.5",
"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": 1222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.297+1792C>T",
"hgvs_p": null,
"transcript": "ENST00000409264.6",
"protein_id": "ENSP00000386893.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": -4,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.252+1792C>T",
"hgvs_p": null,
"transcript": "NM_032472.4",
"protein_id": "NP_115861.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": -4,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.252+1792C>T",
"hgvs_p": null,
"transcript": "ENST00000409449.5",
"protein_id": "ENSP00000387012.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": -4,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.228+1792C>T",
"hgvs_p": null,
"transcript": "ENST00000409361.5",
"protein_id": "ENSP00000386235.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 157,
"cds_start": -4,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.146+1792C>T",
"hgvs_p": null,
"transcript": "ENST00000443398.5",
"protein_id": "ENSP00000391082.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 72,
"cds_start": -4,
"cds_end": null,
"cds_length": 220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "n.*25+1792C>T",
"hgvs_p": null,
"transcript": "ENST00000415562.5",
"protein_id": "ENSP00000400726.1",
"transcript_support_level": 5,
"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": 748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "n.1264+1792C>T",
"hgvs_p": null,
"transcript": "ENST00000463866.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "n.490+1792C>T",
"hgvs_p": null,
"transcript": "ENST00000497263.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "n.629+1792C>T",
"hgvs_p": null,
"transcript": "ENST00000706557.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "n.830+1570C>T",
"hgvs_p": null,
"transcript": "ENST00000706559.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "PPIL3",
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"hgvs_c": "n.226+1574C>T",
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"transcript": "ENST00000706560.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "n.296+1792C>T",
"hgvs_p": null,
"transcript": "ENST00000706561.1",
"protein_id": null,
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"aa_start": null,
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"cdna_start": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "n.*83+1574C>T",
"hgvs_p": null,
"transcript": "ENST00000706562.1",
"protein_id": "ENSP00000516447.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "n.252+1792C>T",
"hgvs_p": null,
"transcript": "ENST00000706563.1",
"protein_id": "ENSP00000516448.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1146,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "n.*136+1792C>T",
"hgvs_p": null,
"transcript": "ENST00000706564.1",
"protein_id": "ENSP00000516449.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "PPIL3",
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"hgvs_c": "c.252+1792C>T",
"hgvs_p": null,
"transcript": "XM_005246651.4",
"protein_id": "XP_005246708.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.252+1792C>T",
"hgvs_p": null,
"transcript": "XM_017004352.2",
"protein_id": "XP_016859841.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.252+1792C>T",
"hgvs_p": null,
"transcript": "XM_017004353.2",
"protein_id": "XP_016859842.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPIL3",
"gene_hgnc_id": 9262,
"hgvs_c": "c.252+1792C>T",
"hgvs_p": null,
"transcript": "XM_017004354.3",
"protein_id": "XP_016859843.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 165,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1655,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
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}
],
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}