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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: 1-33084039-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=33084039&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 33084039,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001301825.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "NM_052998.4",
"protein_id": "NP_443724.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 460,
"cds_start": 191,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000294517.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052998.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "ENST00000294517.11",
"protein_id": "ENSP00000294517.6",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 460,
"cds_start": 191,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052998.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294517.11"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "ENST00000373441.1",
"protein_id": "ENSP00000362540.1",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 480,
"cds_start": 191,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373441.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "ENST00000373443.7",
"protein_id": "ENSP00000362542.3",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 460,
"cds_start": 191,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373443.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "n.2381G>C",
"hgvs_p": null,
"transcript": "ENST00000484656.5",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000484656.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "NM_001301825.1",
"protein_id": "NP_001288754.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 480,
"cds_start": 191,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301825.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "NM_001293562.2",
"protein_id": "NP_001280491.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 460,
"cds_start": 191,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293562.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "NM_001376722.1",
"protein_id": "NP_001363651.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 460,
"cds_start": 191,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376722.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "NM_001376724.1",
"protein_id": "NP_001363653.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 460,
"cds_start": 191,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376724.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "ENST00000910998.1",
"protein_id": "ENSP00000581057.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 460,
"cds_start": 191,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910998.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "ENST00000910999.1",
"protein_id": "ENSP00000581058.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 460,
"cds_start": 191,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910999.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "ENST00000911000.1",
"protein_id": "ENSP00000581059.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 460,
"cds_start": 191,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911000.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "ENST00000911001.1",
"protein_id": "ENSP00000581060.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 460,
"cds_start": 191,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911001.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "ENST00000911003.1",
"protein_id": "ENSP00000581062.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 460,
"cds_start": 191,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911003.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "ENST00000911005.1",
"protein_id": "ENSP00000581064.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 460,
"cds_start": 191,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911005.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "ENST00000911006.1",
"protein_id": "ENSP00000581065.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 460,
"cds_start": 191,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911006.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "ENST00000951909.1",
"protein_id": "ENSP00000621968.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 460,
"cds_start": 191,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951909.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "ENST00000951910.1",
"protein_id": "ENSP00000621969.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 455,
"cds_start": 191,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951910.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "NM_001301826.1",
"protein_id": "NP_001288755.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 362,
"cds_start": 191,
"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": "NM_001301826.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "ENST00000911007.1",
"protein_id": "ENSP00000581066.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 302,
"cds_start": 191,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911007.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "XM_047443450.1",
"protein_id": "XP_047299406.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 381,
"cds_start": 191,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443450.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AZIN2",
"gene_hgnc_id": 29957,
"hgvs_c": "c.191G>C",
"hgvs_p": "p.Arg64Pro",
"transcript": "XM_047443457.1",
"protein_id": "XP_047299413.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 380,
"cds_start": 191,
"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": "XM_047443457.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
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"verdict": "Uncertain_significance",
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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
}