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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: 17-18100623-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=18100623&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 18100623,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001388.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.595T>C",
"hgvs_p": "p.Ser199Pro",
"transcript": "NM_001388.5",
"protein_id": "NP_001379.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 364,
"cds_start": 595,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": "ENST00000225729.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.595T>C",
"hgvs_p": "p.Ser199Pro",
"transcript": "ENST00000225729.8",
"protein_id": "ENSP00000225729.3",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 364,
"cds_start": 595,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": "NM_001388.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225729.8"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.595T>C",
"hgvs_p": "p.Ser199Pro",
"transcript": "ENST00000864168.1",
"protein_id": "ENSP00000534227.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 378,
"cds_start": 595,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864168.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.637T>C",
"hgvs_p": "p.Ser213Pro",
"transcript": "ENST00000968692.1",
"protein_id": "ENSP00000638751.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 378,
"cds_start": 637,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 1942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968692.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.595T>C",
"hgvs_p": "p.Ser199Pro",
"transcript": "ENST00000968693.1",
"protein_id": "ENSP00000638752.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 376,
"cds_start": 595,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 1325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968693.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.604T>C",
"hgvs_p": "p.Ser202Pro",
"transcript": "ENST00000864162.1",
"protein_id": "ENSP00000534221.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 367,
"cds_start": 604,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864162.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.589T>C",
"hgvs_p": "p.Ser197Pro",
"transcript": "ENST00000864163.1",
"protein_id": "ENSP00000534222.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 362,
"cds_start": 589,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864163.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.595T>C",
"hgvs_p": "p.Ser199Pro",
"transcript": "ENST00000864167.1",
"protein_id": "ENSP00000534226.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 362,
"cds_start": 595,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864167.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.586T>C",
"hgvs_p": "p.Ser196Pro",
"transcript": "ENST00000864165.1",
"protein_id": "ENSP00000534224.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 361,
"cds_start": 586,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864165.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.571T>C",
"hgvs_p": "p.Ser191Pro",
"transcript": "ENST00000864164.1",
"protein_id": "ENSP00000534223.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 356,
"cds_start": 571,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 1863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864164.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.595T>C",
"hgvs_p": "p.Ser199Pro",
"transcript": "ENST00000864161.1",
"protein_id": "ENSP00000534220.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 346,
"cds_start": 595,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864161.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.595T>C",
"hgvs_p": "p.Ser199Pro",
"transcript": "NM_001330144.2",
"protein_id": "NP_001317073.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 343,
"cds_start": 595,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 1884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330144.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.595T>C",
"hgvs_p": "p.Ser199Pro",
"transcript": "ENST00000395726.8",
"protein_id": "ENSP00000379076.4",
"transcript_support_level": 5,
"aa_start": 199,
"aa_end": null,
"aa_length": 343,
"cds_start": 595,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 1897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395726.8"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.520T>C",
"hgvs_p": "p.Ser174Pro",
"transcript": "ENST00000925712.1",
"protein_id": "ENSP00000595771.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 339,
"cds_start": 520,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 1851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925712.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.505T>C",
"hgvs_p": "p.Ser169Pro",
"transcript": "ENST00000864160.1",
"protein_id": "ENSP00000534219.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 334,
"cds_start": 505,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864160.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.439T>C",
"hgvs_p": "p.Ser147Pro",
"transcript": "ENST00000864166.1",
"protein_id": "ENSP00000534225.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 312,
"cds_start": 439,
"cds_end": null,
"cds_length": 939,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864166.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.280T>C",
"hgvs_p": "p.Ser94Pro",
"transcript": "ENST00000580929.5",
"protein_id": "ENSP00000462060.1",
"transcript_support_level": 5,
"aa_start": 94,
"aa_end": null,
"aa_length": 112,
"cds_start": 280,
"cds_end": null,
"cds_length": 341,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 389,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580929.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.595T>C",
"hgvs_p": "p.Ser199Pro",
"transcript": "XM_005256499.4",
"protein_id": "XP_005256556.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 385,
"cds_start": 595,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 1963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256499.4"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.595T>C",
"hgvs_p": "p.Ser199Pro",
"transcript": "XM_011523704.3",
"protein_id": "XP_011522006.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 364,
"cds_start": 595,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523704.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.352T>C",
"hgvs_p": "p.Ser118Pro",
"transcript": "XM_005256500.3",
"protein_id": "XP_005256557.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 304,
"cds_start": 352,
"cds_end": null,
"cds_length": 915,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256500.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.226-3178T>C",
"hgvs_p": null,
"transcript": "ENST00000925714.1",
"protein_id": "ENSP00000595773.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": null,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925714.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DRG2",
"gene_hgnc_id": 3030,
"hgvs_c": "c.226-3178T>C",
"hgvs_p": null,
"transcript": "ENST00000583355.1",
"protein_id": "ENSP00000463256.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": null,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583355.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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{
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{
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{
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],
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],
"gene_symbol": "DRG2",
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"dbsnp": "rs1287314001",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
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"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29311591386795044,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.344,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5822,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.923,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"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,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001388.5",
"gene_symbol": "DRG2",
"hgnc_id": 3030,
"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Ser199Pro"
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}