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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: 17-18100635-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=18100635&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 18100635,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001388.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"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.607G>A",
"hgvs_p": "p.Val203Met",
"transcript": "NM_001388.5",
"protein_id": "NP_001379.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 364,
"cds_start": 607,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000225729.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.607G>A",
"hgvs_p": "p.Val203Met",
"transcript": "ENST00000225729.8",
"protein_id": "ENSP00000225729.3",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 364,
"cds_start": 607,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001388.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225729.8"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.607G>A",
"hgvs_p": "p.Val203Met",
"transcript": "ENST00000864168.1",
"protein_id": "ENSP00000534227.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 378,
"cds_start": 607,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864168.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.649G>A",
"hgvs_p": "p.Val217Met",
"transcript": "ENST00000968692.1",
"protein_id": "ENSP00000638751.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 378,
"cds_start": 649,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968692.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.607G>A",
"hgvs_p": "p.Val203Met",
"transcript": "ENST00000968693.1",
"protein_id": "ENSP00000638752.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 376,
"cds_start": 607,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968693.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.616G>A",
"hgvs_p": "p.Val206Met",
"transcript": "ENST00000864162.1",
"protein_id": "ENSP00000534221.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 367,
"cds_start": 616,
"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": "ENST00000864162.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.601G>A",
"hgvs_p": "p.Val201Met",
"transcript": "ENST00000864163.1",
"protein_id": "ENSP00000534222.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 362,
"cds_start": 601,
"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": "ENST00000864163.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.607G>A",
"hgvs_p": "p.Val203Met",
"transcript": "ENST00000864167.1",
"protein_id": "ENSP00000534226.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 362,
"cds_start": 607,
"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": "ENST00000864167.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.598G>A",
"hgvs_p": "p.Val200Met",
"transcript": "ENST00000864165.1",
"protein_id": "ENSP00000534224.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 361,
"cds_start": 598,
"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": "ENST00000864165.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.583G>A",
"hgvs_p": "p.Val195Met",
"transcript": "ENST00000864164.1",
"protein_id": "ENSP00000534223.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 356,
"cds_start": 583,
"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": "ENST00000864164.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.607G>A",
"hgvs_p": "p.Val203Met",
"transcript": "ENST00000864161.1",
"protein_id": "ENSP00000534220.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 346,
"cds_start": 607,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864161.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.607G>A",
"hgvs_p": "p.Val203Met",
"transcript": "NM_001330144.2",
"protein_id": "NP_001317073.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 343,
"cds_start": 607,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330144.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.607G>A",
"hgvs_p": "p.Val203Met",
"transcript": "ENST00000395726.8",
"protein_id": "ENSP00000379076.4",
"transcript_support_level": 5,
"aa_start": 203,
"aa_end": null,
"aa_length": 343,
"cds_start": 607,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395726.8"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.532G>A",
"hgvs_p": "p.Val178Met",
"transcript": "ENST00000925712.1",
"protein_id": "ENSP00000595771.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 339,
"cds_start": 532,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925712.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.517G>A",
"hgvs_p": "p.Val173Met",
"transcript": "ENST00000864160.1",
"protein_id": "ENSP00000534219.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 334,
"cds_start": 517,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864160.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.451G>A",
"hgvs_p": "p.Val151Met",
"transcript": "ENST00000864166.1",
"protein_id": "ENSP00000534225.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 312,
"cds_start": 451,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864166.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.292G>A",
"hgvs_p": "p.Val98Met",
"transcript": "ENST00000580929.5",
"protein_id": "ENSP00000462060.1",
"transcript_support_level": 5,
"aa_start": 98,
"aa_end": null,
"aa_length": 112,
"cds_start": 292,
"cds_end": null,
"cds_length": 341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580929.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.607G>A",
"hgvs_p": "p.Val203Met",
"transcript": "XM_005256499.4",
"protein_id": "XP_005256556.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 385,
"cds_start": 607,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256499.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.607G>A",
"hgvs_p": "p.Val203Met",
"transcript": "XM_011523704.3",
"protein_id": "XP_011522006.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 364,
"cds_start": 607,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523704.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"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.364G>A",
"hgvs_p": "p.Val122Met",
"transcript": "XM_005256500.3",
"protein_id": "XP_005256557.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 304,
"cds_start": 364,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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.226-3166G>A",
"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": null,
"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.226-3166G>A",
"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": null,
"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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"consequences": [
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{
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"verdict": "Uncertain_significance",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}