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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: 1-1616601-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1616601&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1616601,
"ref": "G",
"alt": "C",
"effect": "5_prime_UTR_variant",
"transcript": "NM_080875.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.-36G>C",
"hgvs_p": null,
"transcript": "NM_001170687.4",
"protein_id": "NP_001164158.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 955,
"cds_start": null,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": "ENST00000355826.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170687.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.-36G>C",
"hgvs_p": null,
"transcript": "ENST00000355826.10",
"protein_id": "ENSP00000348081.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 955,
"cds_start": null,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": "NM_001170687.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355826.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.-78G>C",
"hgvs_p": null,
"transcript": "ENST00000505820.7",
"protein_id": "ENSP00000426103.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 955,
"cds_start": null,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505820.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.-78G>C",
"hgvs_p": null,
"transcript": "ENST00000520777.6",
"protein_id": "ENSP00000428660.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 951,
"cds_start": null,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520777.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.-78G>C",
"hgvs_p": null,
"transcript": "ENST00000518681.6",
"protein_id": "ENSP00000428264.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 890,
"cds_start": null,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518681.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Gly33Arg",
"transcript": "XM_047446731.1",
"protein_id": "XP_047302687.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1067,
"cds_start": 97,
"cds_end": null,
"cds_length": 3204,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446731.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Gly33Arg",
"transcript": "XM_047446735.1",
"protein_id": "XP_047302691.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1063,
"cds_start": 97,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446735.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Gly33Arg",
"transcript": "XM_047446736.1",
"protein_id": "XP_047302692.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1053,
"cds_start": 97,
"cds_end": null,
"cds_length": 3162,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446736.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Gly33Arg",
"transcript": "XM_047446737.1",
"protein_id": "XP_047302693.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1034,
"cds_start": 97,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446737.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Gly33Arg",
"transcript": "XM_047446738.1",
"protein_id": "XP_047302694.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1032,
"cds_start": 97,
"cds_end": null,
"cds_length": 3099,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3305,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446738.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Gly33Arg",
"transcript": "XM_047446741.1",
"protein_id": "XP_047302697.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1028,
"cds_start": 97,
"cds_end": null,
"cds_length": 3087,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446741.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Gly33Arg",
"transcript": "XM_047446742.1",
"protein_id": "XP_047302698.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 1020,
"cds_start": 97,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446742.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Gly33Arg",
"transcript": "XM_047446743.1",
"protein_id": "XP_047302699.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 995,
"cds_start": 97,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446743.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Gly33Arg",
"transcript": "XM_047446744.1",
"protein_id": "XP_047302700.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 978,
"cds_start": 97,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3143,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446744.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Gly33Arg",
"transcript": "XM_006710372.2",
"protein_id": "XP_006710435.2",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 977,
"cds_start": 97,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710372.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Gly33Arg",
"transcript": "XM_047446745.1",
"protein_id": "XP_047302701.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 964,
"cds_start": 97,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3101,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446745.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Gly33Arg",
"transcript": "XM_047446746.1",
"protein_id": "XP_047302702.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 963,
"cds_start": 97,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446746.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.717G>C",
"hgvs_p": "p.Leu239Leu",
"transcript": "XM_047446594.1",
"protein_id": "XP_047302550.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1267,
"cds_start": 717,
"cds_end": null,
"cds_length": 3804,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 5608,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446594.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.717G>C",
"hgvs_p": "p.Leu239Leu",
"transcript": "XM_047446668.1",
"protein_id": "XP_047302624.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1213,
"cds_start": 717,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 5446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446668.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.717G>C",
"hgvs_p": "p.Leu239Leu",
"transcript": "XM_047446677.1",
"protein_id": "XP_047302633.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1199,
"cds_start": 717,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 5404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446677.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.717G>C",
"hgvs_p": "p.Leu239Leu",
"transcript": "XM_047446726.1",
"protein_id": "XP_047302682.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1178,
"cds_start": 717,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 5341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446726.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIB2",
"gene_hgnc_id": 30577,
"hgvs_c": "c.717G>C",
"hgvs_p": "p.Leu239Leu",
"transcript": "XM_047446727.1",
"protein_id": "XP_047302683.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 1177,
"cds_start": 717,
"cds_end": null,
"cds_length": 3534,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 5338,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}