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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: 2-174571942-T-TGAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=174571942&ref=T&alt=TGAG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 174571942,
"ref": "T",
"alt": "TGAG",
"effect": "conservative_inframe_insertion",
"transcript": "ENST00000679041.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "PQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862dupCTC",
"hgvs_p": "p.Pro287dup",
"transcript": "NM_001375834.1",
"protein_id": "NP_001362763.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 503,
"cds_start": 862,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": "ENST00000679041.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "PQ",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862dupCTC",
"hgvs_p": "p.Pro287dup",
"transcript": "ENST00000679041.1",
"protein_id": "ENSP00000503603.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 503,
"cds_start": 862,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4727,
"mane_select": "NM_001375834.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "PQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862dupCTC",
"hgvs_p": "p.Pro287dup",
"transcript": "ENST00000272746.9",
"protein_id": "ENSP00000272746.5",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 510,
"cds_start": 862,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "PQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862dupCTC",
"hgvs_p": "p.Pro287dup",
"transcript": "ENST00000359761.7",
"protein_id": "ENSP00000352802.3",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 503,
"cds_start": 862,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "PQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862dupCTC",
"hgvs_p": "p.Pro287dup",
"transcript": "ENST00000392547.6",
"protein_id": "ENSP00000376330.2",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 503,
"cds_start": 862,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 4587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "PQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862dupCTC",
"hgvs_p": "p.Pro287dup",
"transcript": "ENST00000409891.5",
"protein_id": "ENSP00000386431.1",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 493,
"cds_start": 862,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "PQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862dupCTC",
"hgvs_p": "p.Pro287dup",
"transcript": "ENST00000409415.7",
"protein_id": "ENSP00000387150.3",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 403,
"cds_start": 862,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000236449",
"gene_hgnc_id": null,
"hgvs_c": "n.217+24476_217+24478dupAGG",
"hgvs_p": null,
"transcript": "ENST00000442996.1",
"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": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "PQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862dupCTC",
"hgvs_p": "p.Pro287dup",
"transcript": "NM_001375835.1",
"protein_id": "NP_001362764.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 510,
"cds_start": 862,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 4238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "PQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862dupCTC",
"hgvs_p": "p.Pro287dup",
"transcript": "NM_001077269.1",
"protein_id": "NP_001070737.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 503,
"cds_start": 862,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "PQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862dupCTC",
"hgvs_p": "p.Pro287dup",
"transcript": "NM_001375832.1",
"protein_id": "NP_001362761.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 503,
"cds_start": 862,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 4814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "PQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862dupCTC",
"hgvs_p": "p.Pro287dup",
"transcript": "NM_001375833.1",
"protein_id": "NP_001362762.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 503,
"cds_start": 862,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 4751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "PQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862dupCTC",
"hgvs_p": "p.Pro287dup",
"transcript": "NM_003387.5",
"protein_id": "NP_003378.3",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 503,
"cds_start": 862,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 4611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "PQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862dupCTC",
"hgvs_p": "p.Pro287dup",
"transcript": "ENST00000392546.6",
"protein_id": "ENSP00000376329.2",
"transcript_support_level": 5,
"aa_start": 288,
"aa_end": null,
"aa_length": 503,
"cds_start": 862,
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"cdna_start": 1194,
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"cdna_length": 2180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862dupCTC",
"hgvs_p": "p.Pro287dup",
"transcript": "ENST00000436221.2",
"protein_id": "ENSP00000388454.2",
"transcript_support_level": 3,
"aa_start": 288,
"aa_end": null,
"aa_length": 503,
"cds_start": 862,
"cds_end": null,
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"cdna_start": 936,
"cdna_end": null,
"cdna_length": 4551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "PQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862dupCTC",
"hgvs_p": "p.Pro287dup",
"transcript": "ENST00000698668.1",
"protein_id": "ENSP00000513869.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 503,
"cds_start": 862,
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"cdna_start": 947,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "PQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862dupCTC",
"hgvs_p": "p.Pro287dup",
"transcript": "ENST00000698701.1",
"protein_id": "ENSP00000513882.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 503,
"cds_start": 862,
"cds_end": null,
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"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 4628,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862dupCTC",
"hgvs_p": "p.Pro287dup",
"transcript": "ENST00000698667.1",
"protein_id": "ENSP00000513868.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 432,
"cds_start": 862,
"cds_end": null,
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"cdna_start": 1026,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862dupCTC",
"hgvs_p": "p.Pro287dup",
"transcript": "NM_001375836.1",
"protein_id": "NP_001362765.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 862,
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"cdna_start": 1040,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "PQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862dupCTC",
"hgvs_p": "p.Pro287dup",
"transcript": "NM_001375837.1",
"protein_id": "NP_001362766.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 403,
"cds_start": 862,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 5,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.860_862dupCTC",
"hgvs_p": "p.Pro287dup",
"transcript": "NM_001375838.1",
"protein_id": "NP_001362767.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 403,
"cds_start": 862,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 1735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "PQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WIPF1",
"gene_hgnc_id": 12736,
"hgvs_c": "c.482_484dupCTC",
"hgvs_p": "p.Pro161dup",
"transcript": "NM_001375839.1",
"protein_id": "NP_001362768.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 377,
"cds_start": 484,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 4233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "PQ",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 6,
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{
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}
],
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}