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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: 2-58165745-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=58165745&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 58165745,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001438889.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.670A>G",
"hgvs_p": "p.Thr224Ala",
"transcript": "NM_018062.4",
"protein_id": "NP_060532.2",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 375,
"cds_start": 670,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": "ENST00000233741.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018062.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.670A>G",
"hgvs_p": "p.Thr224Ala",
"transcript": "ENST00000233741.9",
"protein_id": "ENSP00000233741.5",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 375,
"cds_start": 670,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": "NM_018062.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233741.9"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.670A>G",
"hgvs_p": "p.Thr224Ala",
"transcript": "ENST00000403295.8",
"protein_id": "ENSP00000386097.3",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 347,
"cds_start": 670,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 702,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403295.8"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.493A>G",
"hgvs_p": "p.Thr165Ala",
"transcript": "ENST00000449070.6",
"protein_id": "ENSP00000401280.2",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 316,
"cds_start": 493,
"cds_end": null,
"cds_length": 951,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449070.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.715A>G",
"hgvs_p": "p.Thr239Ala",
"transcript": "NM_001438889.1",
"protein_id": "NP_001425818.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 398,
"cds_start": 715,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438889.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Thr244Ala",
"transcript": "NM_001410792.1",
"protein_id": "NP_001397721.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 395,
"cds_start": 730,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410792.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Thr244Ala",
"transcript": "ENST00000696326.1",
"protein_id": "ENSP00000512562.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 395,
"cds_start": 730,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 1680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696326.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.715A>G",
"hgvs_p": "p.Thr239Ala",
"transcript": "NM_001374615.1",
"protein_id": "NP_001361544.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 390,
"cds_start": 715,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 1703,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374615.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.715A>G",
"hgvs_p": "p.Thr239Ala",
"transcript": "ENST00000427708.7",
"protein_id": "ENSP00000400969.3",
"transcript_support_level": 5,
"aa_start": 239,
"aa_end": null,
"aa_length": 390,
"cds_start": 715,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427708.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.685A>G",
"hgvs_p": "p.Thr229Ala",
"transcript": "NM_001438890.1",
"protein_id": "NP_001425819.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 388,
"cds_start": 685,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438890.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.670A>G",
"hgvs_p": "p.Thr224Ala",
"transcript": "NM_001438891.1",
"protein_id": "NP_001425820.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 383,
"cds_start": 670,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438891.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Thr229Ala",
"transcript": "NM_001114636.2",
"protein_id": "NP_001108108.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 380,
"cds_start": 685,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 1673,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114636.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Thr229Ala",
"transcript": "ENST00000402135.8",
"protein_id": "ENSP00000385021.3",
"transcript_support_level": 2,
"aa_start": 229,
"aa_end": null,
"aa_length": 380,
"cds_start": 685,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402135.8"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.661A>G",
"hgvs_p": "p.Thr221Ala",
"transcript": "ENST00000696371.1",
"protein_id": "ENSP00000512586.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 372,
"cds_start": 661,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696371.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.658A>G",
"hgvs_p": "p.Thr220Ala",
"transcript": "ENST00000696547.1",
"protein_id": "ENSP00000512707.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 371,
"cds_start": 658,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 1645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696547.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.670A>G",
"hgvs_p": "p.Thr224Ala",
"transcript": "ENST00000696307.1",
"protein_id": "ENSP00000512545.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 370,
"cds_start": 670,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 1175,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696307.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.670A>G",
"hgvs_p": "p.Thr224Ala",
"transcript": "ENST00000696635.1",
"protein_id": "ENSP00000512771.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 367,
"cds_start": 670,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696635.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.715A>G",
"hgvs_p": "p.Thr239Ala",
"transcript": "ENST00000909682.1",
"protein_id": "ENSP00000579741.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 362,
"cds_start": 715,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909682.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Thr210Ala",
"transcript": "ENST00000696319.1",
"protein_id": "ENSP00000512557.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 361,
"cds_start": 628,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696319.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.613A>G",
"hgvs_p": "p.Thr205Ala",
"transcript": "ENST00000696305.1",
"protein_id": "ENSP00000512543.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 356,
"cds_start": 613,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696305.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.685A>G",
"hgvs_p": "p.Thr229Ala",
"transcript": "ENST00000696624.1",
"protein_id": "ENSP00000512761.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 352,
"cds_start": 685,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696624.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.670A>G",
"hgvs_p": "p.Thr224Ala",
"transcript": "ENST00000696567.1",
"protein_id": "ENSP00000512724.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 340,
"cds_start": 670,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 682,
"cdna_end": null,
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"computational_score_selected": 0.005357474088668823,
"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.19,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.393,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
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"BS1",
"BS2"
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"verdict": "Benign",
"transcript": "NM_001438889.1",
"gene_symbol": "FANCL",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Thr239Ala"
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],
"clinvar_disease": "Fanconi anemia,Fanconi anemia complementation group L,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6 B:3",
"phenotype_combined": "Fanconi anemia|not specified|not provided|Fanconi anemia complementation group L",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}