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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: 2-58163503-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=58163503&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 58163503,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000233741.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.706A>G",
"hgvs_p": "p.Ile236Val",
"transcript": "NM_018062.4",
"protein_id": "NP_060532.2",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 375,
"cds_start": 706,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": "ENST00000233741.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.706A>G",
"hgvs_p": "p.Ile236Val",
"transcript": "ENST00000233741.9",
"protein_id": "ENSP00000233741.5",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 375,
"cds_start": 706,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": "NM_018062.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.529A>G",
"hgvs_p": "p.Ile177Val",
"transcript": "ENST00000449070.6",
"protein_id": "ENSP00000401280.2",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 316,
"cds_start": 529,
"cds_end": null,
"cds_length": 951,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1526,
"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": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.692-429A>G",
"hgvs_p": null,
"transcript": "ENST00000403295.8",
"protein_id": "ENSP00000386097.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 347,
"cds_start": -4,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Ile251Val",
"transcript": "NM_001438889.1",
"protein_id": "NP_001425818.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 398,
"cds_start": 751,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.766A>G",
"hgvs_p": "p.Ile256Val",
"transcript": "NM_001410792.1",
"protein_id": "NP_001397721.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 395,
"cds_start": 766,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.766A>G",
"hgvs_p": "p.Ile256Val",
"transcript": "ENST00000696326.1",
"protein_id": "ENSP00000512562.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 395,
"cds_start": 766,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 1680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Ile251Val",
"transcript": "NM_001374615.1",
"protein_id": "NP_001361544.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 390,
"cds_start": 751,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 1703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.751A>G",
"hgvs_p": "p.Ile251Val",
"transcript": "ENST00000427708.7",
"protein_id": "ENSP00000400969.3",
"transcript_support_level": 5,
"aa_start": 251,
"aa_end": null,
"aa_length": 390,
"cds_start": 751,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.721A>G",
"hgvs_p": "p.Ile241Val",
"transcript": "NM_001438890.1",
"protein_id": "NP_001425819.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 388,
"cds_start": 721,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.706A>G",
"hgvs_p": "p.Ile236Val",
"transcript": "NM_001438891.1",
"protein_id": "NP_001425820.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 383,
"cds_start": 706,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.721A>G",
"hgvs_p": "p.Ile241Val",
"transcript": "NM_001114636.2",
"protein_id": "NP_001108108.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 380,
"cds_start": 721,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.721A>G",
"hgvs_p": "p.Ile241Val",
"transcript": "ENST00000402135.8",
"protein_id": "ENSP00000385021.3",
"transcript_support_level": 2,
"aa_start": 241,
"aa_end": null,
"aa_length": 380,
"cds_start": 721,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.697A>G",
"hgvs_p": "p.Ile233Val",
"transcript": "ENST00000696371.1",
"protein_id": "ENSP00000512586.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 372,
"cds_start": 697,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.694A>G",
"hgvs_p": "p.Ile232Val",
"transcript": "ENST00000696547.1",
"protein_id": "ENSP00000512707.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 371,
"cds_start": 694,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 1645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.706A>G",
"hgvs_p": "p.Ile236Val",
"transcript": "ENST00000696307.1",
"protein_id": "ENSP00000512545.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 370,
"cds_start": 706,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 1175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.664A>G",
"hgvs_p": "p.Ile222Val",
"transcript": "ENST00000696319.1",
"protein_id": "ENSP00000512557.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 361,
"cds_start": 664,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.649A>G",
"hgvs_p": "p.Ile217Val",
"transcript": "ENST00000696305.1",
"protein_id": "ENSP00000512543.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 356,
"cds_start": 649,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.706A>G",
"hgvs_p": "p.Ile236Val",
"transcript": "ENST00000696567.1",
"protein_id": "ENSP00000512724.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 340,
"cds_start": 706,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 718,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.706A>G",
"hgvs_p": "p.Ile236Val",
"transcript": "ENST00000696316.1",
"protein_id": "ENSP00000512554.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 336,
"cds_start": 706,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 1541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Ile182Val",
"transcript": "ENST00000696434.1",
"protein_id": "ENSP00000512628.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 321,
"cds_start": 544,
"cds_end": null,
"cds_length": 966,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 1497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.502A>G",
"hgvs_p": "p.Ile168Val",
"transcript": "ENST00000696530.1",
"protein_id": "ENSP00000512692.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 307,
"cds_start": 502,
"cds_end": null,
"cds_length": 924,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 1119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.262A>G",
"hgvs_p": "p.Ile88Val",
"transcript": "NM_001438892.1",
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}