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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: 2-58161593-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=58161593&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 58161593,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000233741.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Gly317Ser",
"transcript": "NM_018062.4",
"protein_id": "NP_060532.2",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 375,
"cds_start": 949,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": "ENST00000233741.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Gly317Ser",
"transcript": "ENST00000233741.9",
"protein_id": "ENSP00000233741.5",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 375,
"cds_start": 949,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": "NM_018062.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.865G>A",
"hgvs_p": "p.Gly289Ser",
"transcript": "ENST00000403295.8",
"protein_id": "ENSP00000386097.3",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 347,
"cds_start": 865,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Gly258Ser",
"transcript": "ENST00000449070.6",
"protein_id": "ENSP00000401280.2",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 316,
"cds_start": 772,
"cds_end": null,
"cds_length": 951,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Gly332Ser",
"transcript": "NM_001438889.1",
"protein_id": "NP_001425818.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 398,
"cds_start": 994,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Gly337Ser",
"transcript": "NM_001410792.1",
"protein_id": "NP_001397721.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 395,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Gly337Ser",
"transcript": "ENST00000696326.1",
"protein_id": "ENSP00000512562.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 395,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 1680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Gly332Ser",
"transcript": "NM_001374615.1",
"protein_id": "NP_001361544.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 390,
"cds_start": 994,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 1703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.994G>A",
"hgvs_p": "p.Gly332Ser",
"transcript": "ENST00000427708.7",
"protein_id": "ENSP00000400969.3",
"transcript_support_level": 5,
"aa_start": 332,
"aa_end": null,
"aa_length": 390,
"cds_start": 994,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Gly322Ser",
"transcript": "NM_001438890.1",
"protein_id": "NP_001425819.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 388,
"cds_start": 964,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Gly317Ser",
"transcript": "NM_001438891.1",
"protein_id": "NP_001425820.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 383,
"cds_start": 949,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Gly322Ser",
"transcript": "NM_001114636.2",
"protein_id": "NP_001108108.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 380,
"cds_start": 964,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Gly322Ser",
"transcript": "ENST00000402135.8",
"protein_id": "ENSP00000385021.3",
"transcript_support_level": 2,
"aa_start": 322,
"aa_end": null,
"aa_length": 380,
"cds_start": 964,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.940G>A",
"hgvs_p": "p.Gly314Ser",
"transcript": "ENST00000696371.1",
"protein_id": "ENSP00000512586.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 372,
"cds_start": 940,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Gly313Ser",
"transcript": "ENST00000696547.1",
"protein_id": "ENSP00000512707.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 371,
"cds_start": 937,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 1645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Gly312Ser",
"transcript": "ENST00000696307.1",
"protein_id": "ENSP00000512545.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 370,
"cds_start": 934,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 1175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Gly309Ser",
"transcript": "ENST00000696635.1",
"protein_id": "ENSP00000512771.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 367,
"cds_start": 925,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.907G>A",
"hgvs_p": "p.Gly303Ser",
"transcript": "ENST00000696319.1",
"protein_id": "ENSP00000512557.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 361,
"cds_start": 907,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Gly298Ser",
"transcript": "ENST00000696305.1",
"protein_id": "ENSP00000512543.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 356,
"cds_start": 892,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Gly294Ser",
"transcript": "ENST00000696624.1",
"protein_id": "ENSP00000512761.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 352,
"cds_start": 880,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Gly282Ser",
"transcript": "ENST00000696567.1",
"protein_id": "ENSP00000512724.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 340,
"cds_start": 844,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Gly263Ser",
"transcript": "ENST00000696434.1",
"protein_id": "ENSP00000512628.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 321,
"cds_start": 787,
"cds_end": null,
"cds_length": 966,
"cdna_start": 799,
"cdna_end": null,
"cdna_length": 1497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Gly249Ser",
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{
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},
{
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],
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}
],
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"dbsnp": "rs1060501896",
"frequency_reference_population": 0.000009592181,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000959218,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41341304779052734,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.175,
"revel_prediction": "Benign",
"alphamissense_score": 0.1155,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.237,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000233741.9",
"gene_symbol": "FANCL",
"hgnc_id": 20748,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Gly317Ser"
}
],
"clinvar_disease": "Fanconi anemia,Fanconi anemia complementation group L",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Fanconi anemia|Fanconi anemia complementation group L",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}