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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: 1-45331682-GC-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=45331682&ref=GC&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 45331682,
"ref": "GC",
"alt": "AT",
"effect": "synonymous_variant",
"transcript": "NM_001128425.2",
"consequences": [
{
"aa_ref": "LL",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1164_1165delGCinsAT",
"hgvs_p": "p.390",
"transcript": "NM_001128425.2",
"protein_id": "NP_001121897.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 549,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": null,
"mane_plus": "ENST00000710952.2",
"biotype": "protein_coding",
"feature": "NM_001128425.2"
},
{
"aa_ref": "LL",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1164_1165delGCinsAT",
"hgvs_p": "p.390",
"transcript": "ENST00000710952.2",
"protein_id": "ENSP00000518552.2",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 549,
"cds_start": 1164,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": null,
"mane_plus": "NM_001128425.2",
"biotype": "protein_coding",
"feature": "ENST00000710952.2"
},
{
"aa_ref": "LL",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1080_1081delGCinsAT",
"hgvs_p": "p.362",
"transcript": "NM_001048174.2",
"protein_id": "NP_001041639.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 521,
"cds_start": 1080,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": "ENST00000456914.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001048174.2"
},
{
"aa_ref": "LL",
"aa_alt": "LL",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1080_1081delGCinsAT",
"hgvs_p": "p.362",
"transcript": "ENST00000456914.7",
"protein_id": "ENSP00000407590.2",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 521,
"cds_start": 1080,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": "NM_001048174.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456914.7"
},
{
"aa_ref": "LL",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1155_1156delGCinsAT",
"hgvs_p": "p.387",
"transcript": "ENST00000372098.7",
"protein_id": "ENSP00000361170.3",
"transcript_support_level": 1,
"aa_start": 385,
"aa_end": null,
"aa_length": 546,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 1839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372098.7"
},
{
"aa_ref": "LL",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1125_1126delGCinsAT",
"hgvs_p": "p.377",
"transcript": "ENST00000372110.7",
"protein_id": "ENSP00000361182.3",
"transcript_support_level": 1,
"aa_start": 375,
"aa_end": null,
"aa_length": 536,
"cds_start": 1125,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 1809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372110.7"
},
{
"aa_ref": "LL",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1122_1123delGCinsAT",
"hgvs_p": "p.376",
"transcript": "ENST00000372115.7",
"protein_id": "ENSP00000361187.3",
"transcript_support_level": 1,
"aa_start": 374,
"aa_end": null,
"aa_length": 535,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372115.7"
},
{
"aa_ref": "LL",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1113_1114delGCinsAT",
"hgvs_p": "p.373",
"transcript": "ENST00000448481.5",
"protein_id": "ENSP00000409718.1",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 532,
"cds_start": 1113,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1157,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448481.5"
},
{
"aa_ref": "LL",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1083_1084delGCinsAT",
"hgvs_p": "p.363",
"transcript": "ENST00000354383.10",
"protein_id": "ENSP00000346354.6",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 522,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 1744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354383.10"
},
{
"aa_ref": "LL",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1080_1081delGCinsAT",
"hgvs_p": "p.362",
"transcript": "ENST00000355498.6",
"protein_id": "ENSP00000347685.2",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 521,
"cds_start": 1080,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 1776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355498.6"
},
{
"aa_ref": "LL",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1080_1081delGCinsAT",
"hgvs_p": "p.362",
"transcript": "ENST00000372104.5",
"protein_id": "ENSP00000361176.1",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 521,
"cds_start": 1080,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372104.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.*893_*894delGCinsAT",
"hgvs_p": null,
"transcript": "ENST00000475516.5",
"protein_id": "ENSP00000433843.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1677,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000475516.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.*893_*894delGCinsAT",
"hgvs_p": null,
"transcript": "ENST00000481571.5",
"protein_id": "ENSP00000436597.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000481571.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288208",
"gene_hgnc_id": null,
"hgvs_c": "n.1668_1669delGCinsAT",
"hgvs_p": null,
"transcript": "ENST00000671898.1",
"protein_id": "ENSP00000499896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000671898.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.*893_*894delGCinsAT",
"hgvs_p": null,
"transcript": "ENST00000475516.5",
"protein_id": "ENSP00000433843.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1677,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000475516.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "n.*893_*894delGCinsAT",
"hgvs_p": null,
"transcript": "ENST00000481571.5",
"protein_id": "ENSP00000436597.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1742,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000481571.5"
},
{
"aa_ref": "LL",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1155_1156delGCinsAT",
"hgvs_p": "p.387",
"transcript": "NM_012222.3",
"protein_id": "NP_036354.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 546,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012222.3"
},
{
"aa_ref": "LL",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1155_1156delGCinsAT",
"hgvs_p": "p.387",
"transcript": "ENST00000672818.3",
"protein_id": "ENSP00000500891.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 546,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1342,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672818.3"
},
{
"aa_ref": "LL",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1125_1126delGCinsAT",
"hgvs_p": "p.377",
"transcript": "NM_001293190.2",
"protein_id": "NP_001280119.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 536,
"cds_start": 1125,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293190.2"
},
{
"aa_ref": "LL",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1122_1123delGCinsAT",
"hgvs_p": "p.376",
"transcript": "NM_001407083.1",
"protein_id": "NP_001394012.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 535,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407083.1"
},
{
"aa_ref": "LL",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1122_1123delGCinsAT",
"hgvs_p": "p.376",
"transcript": "NM_001407085.1",
"protein_id": "NP_001394014.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 535,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 1750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407085.1"
},
{
"aa_ref": "LL",
"aa_alt": "LL",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUTYH",
"gene_hgnc_id": 7527,
"hgvs_c": "c.1122_1123delGCinsAT",
"hgvs_p": "p.376",
"transcript": "ENST00000528013.6",
"protein_id": "ENSP00000433130.2",
"transcript_support_level": 5,
"aa_start": 374,
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"transcript": "ENST00000671898.1",
"gene_symbol": "ENSG00000288208",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1668_1669delGCinsAT",
"hgvs_p": null
}
],
"clinvar_disease": "Familial adenomatous polyposis 2,Hereditary cancer-predisposing syndrome,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Familial adenomatous polyposis 2|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}