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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: 1-33098096-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=33098096&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AZIN2",
"hgnc_id": 29957,
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Val336Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001301825.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 58,
"alphamissense_prediction": null,
"alphamissense_score": 0.0826,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.041587650775909424,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 460,
"aa_ref": "V",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5240,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 1383,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_052998.4",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000294517.11",
"protein_coding": true,
"protein_id": "NP_443724.1",
"strand": true,
"transcript": "NM_052998.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 460,
"aa_ref": "V",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5240,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 1383,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000294517.11",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_052998.4",
"protein_coding": true,
"protein_id": "ENSP00000294517.6",
"strand": true,
"transcript": "ENST00000294517.11",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 480,
"aa_ref": "V",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1443,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1006,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000373441.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Val336Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362540.1",
"strand": true,
"transcript": "ENST00000373441.1",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 460,
"aa_ref": "V",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2048,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 1383,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000373443.7",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362542.3",
"strand": true,
"transcript": "ENST00000373443.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5848,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000484656.5",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "n.3136G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000484656.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 480,
"aa_ref": "V",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1864,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1006,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001301825.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.1006G>A",
"hgvs_p": "p.Val336Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288754.1",
"strand": true,
"transcript": "NM_001301825.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 460,
"aa_ref": "V",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5025,
"cdna_start": 1278,
"cds_end": null,
"cds_length": 1383,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001293562.2",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001280491.1",
"strand": true,
"transcript": "NM_001293562.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 460,
"aa_ref": "V",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5028,
"cdna_start": 1281,
"cds_end": null,
"cds_length": 1383,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001376722.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363651.1",
"strand": true,
"transcript": "NM_001376722.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 460,
"aa_ref": "V",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5121,
"cdna_start": 1374,
"cds_end": null,
"cds_length": 1383,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001376724.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363653.1",
"strand": true,
"transcript": "NM_001376724.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 460,
"aa_ref": "V",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5052,
"cdna_start": 1306,
"cds_end": null,
"cds_length": 1383,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000910998.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581057.1",
"strand": true,
"transcript": "ENST00000910998.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 460,
"aa_ref": "V",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2430,
"cdna_start": 1644,
"cds_end": null,
"cds_length": 1383,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000910999.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581058.1",
"strand": true,
"transcript": "ENST00000910999.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 460,
"aa_ref": "V",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2333,
"cdna_start": 1550,
"cds_end": null,
"cds_length": 1383,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000911000.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581059.1",
"strand": true,
"transcript": "ENST00000911000.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 460,
"aa_ref": "V",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2275,
"cdna_start": 1492,
"cds_end": null,
"cds_length": 1383,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000911001.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581060.1",
"strand": true,
"transcript": "ENST00000911001.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 460,
"aa_ref": "V",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 1383,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000911003.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581062.1",
"strand": true,
"transcript": "ENST00000911003.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 460,
"aa_ref": "V",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2328,
"cdna_start": 1547,
"cds_end": null,
"cds_length": 1383,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000911005.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581064.1",
"strand": true,
"transcript": "ENST00000911005.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 460,
"aa_ref": "V",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2541,
"cdna_start": 1758,
"cds_end": null,
"cds_length": 1383,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000911006.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581065.1",
"strand": true,
"transcript": "ENST00000911006.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 460,
"aa_ref": "V",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2726,
"cdna_start": 1950,
"cds_end": null,
"cds_length": 1383,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000951909.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Val316Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621968.1",
"strand": true,
"transcript": "ENST00000951909.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 455,
"aa_ref": "V",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2033,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 1368,
"cds_start": 931,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000951910.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Val311Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621969.1",
"strand": true,
"transcript": "ENST00000951910.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 402,
"aa_ref": "V",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4851,
"cdna_start": 1104,
"cds_end": null,
"cds_length": 1209,
"cds_start": 772,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001376730.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Val258Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363659.1",
"strand": true,
"transcript": "NM_001376730.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 402,
"aa_ref": "V",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": 1198,
"cds_end": null,
"cds_length": 1209,
"cds_start": 772,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000911002.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Val258Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581061.1",
"strand": true,
"transcript": "ENST00000911002.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 402,
"aa_ref": "V",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 1105,
"cds_end": null,
"cds_length": 1209,
"cds_start": 772,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000911004.1",
"gene_hgnc_id": 29957,
"gene_symbol": "AZIN2",
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Val258Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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