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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: 2-58160147-A-ACT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=58160147&ref=A&alt=ACT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 58160147,
"ref": "A",
"alt": "ACT",
"effect": "frameshift_variant",
"transcript": "NM_001438889.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1051_1052dupAG",
"hgvs_p": "p.Ser351fs",
"transcript": "NM_018062.4",
"protein_id": "NP_060532.2",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 375,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000233741.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018062.4"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1051_1052dupAG",
"hgvs_p": "p.Ser351fs",
"transcript": "ENST00000233741.9",
"protein_id": "ENSP00000233741.5",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 375,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018062.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233741.9"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.967_968dupAG",
"hgvs_p": "p.Ser323fs",
"transcript": "ENST00000403295.8",
"protein_id": "ENSP00000386097.3",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 347,
"cds_start": 968,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403295.8"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.874_875dupAG",
"hgvs_p": "p.Ser292fs",
"transcript": "ENST00000449070.6",
"protein_id": "ENSP00000401280.2",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 316,
"cds_start": 875,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449070.6"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.1096_1097dupAG",
"hgvs_p": "p.Ser366fs",
"transcript": "NM_001438889.1",
"protein_id": "NP_001425818.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 398,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438889.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.1111_1112dupAG",
"hgvs_p": "p.Ser371fs",
"transcript": "NM_001410792.1",
"protein_id": "NP_001397721.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 395,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410792.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.1111_1112dupAG",
"hgvs_p": "p.Ser371fs",
"transcript": "ENST00000696326.1",
"protein_id": "ENSP00000512562.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 395,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696326.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.1096_1097dupAG",
"hgvs_p": "p.Ser366fs",
"transcript": "NM_001374615.1",
"protein_id": "NP_001361544.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 390,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374615.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.1096_1097dupAG",
"hgvs_p": "p.Ser366fs",
"transcript": "ENST00000427708.7",
"protein_id": "ENSP00000400969.3",
"transcript_support_level": 5,
"aa_start": 366,
"aa_end": null,
"aa_length": 390,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427708.7"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.1066_1067dupAG",
"hgvs_p": "p.Ser356fs",
"transcript": "NM_001438890.1",
"protein_id": "NP_001425819.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 388,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438890.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCL",
"gene_hgnc_id": 20748,
"hgvs_c": "c.1051_1052dupAG",
"hgvs_p": "p.Ser351fs",
"transcript": "NM_001438891.1",
"protein_id": "NP_001425820.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 383,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438891.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1066_1067dupAG",
"hgvs_p": "p.Ser356fs",
"transcript": "NM_001114636.2",
"protein_id": "NP_001108108.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 380,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114636.2"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1066_1067dupAG",
"hgvs_p": "p.Ser356fs",
"transcript": "ENST00000402135.8",
"protein_id": "ENSP00000385021.3",
"transcript_support_level": 2,
"aa_start": 356,
"aa_end": null,
"aa_length": 380,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402135.8"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1042_1043dupAG",
"hgvs_p": "p.Ser348fs",
"transcript": "ENST00000696371.1",
"protein_id": "ENSP00000512586.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 372,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696371.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1039_1040dupAG",
"hgvs_p": "p.Ser347fs",
"transcript": "ENST00000696547.1",
"protein_id": "ENSP00000512707.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 371,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696547.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1036_1037dupAG",
"hgvs_p": "p.Ser346fs",
"transcript": "ENST00000696307.1",
"protein_id": "ENSP00000512545.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 370,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696307.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1027_1028dupAG",
"hgvs_p": "p.Ser343fs",
"transcript": "ENST00000696635.1",
"protein_id": "ENSP00000512771.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 367,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696635.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1012_1013dupAG",
"hgvs_p": "p.Ser338fs",
"transcript": "ENST00000909682.1",
"protein_id": "ENSP00000579741.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 362,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909682.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1009_1010dupAG",
"hgvs_p": "p.Ser337fs",
"transcript": "ENST00000696319.1",
"protein_id": "ENSP00000512557.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 361,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696319.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.994_995dupAG",
"hgvs_p": "p.Ser332fs",
"transcript": "ENST00000696305.1",
"protein_id": "ENSP00000512543.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 356,
"cds_start": 995,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696305.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.982_983dupAG",
"hgvs_p": "p.Ser328fs",
"transcript": "ENST00000696624.1",
"protein_id": "ENSP00000512761.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 352,
"cds_start": 983,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696624.1"
},
{
"aa_ref": "S",
"aa_alt": "R?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.946_947dupAG",
"hgvs_p": "p.Ser316fs",
"transcript": "ENST00000696567.1",
"protein_id": "ENSP00000512724.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 340,
"cds_start": 947,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
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}
],
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}