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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: 3-43576988-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=43576988&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ANO10",
"hgnc_id": 25519,
"hgvs_c": "c.866A>C",
"hgvs_p": "p.His289Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001346464.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.7627,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.23,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6626646518707275,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 660,
"aa_ref": "H",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 980,
"cds_end": null,
"cds_length": 1983,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_018075.5",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.His289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000292246.8",
"protein_coding": true,
"protein_id": "NP_060545.3",
"strand": false,
"transcript": "NM_018075.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 660,
"aa_ref": "H",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 980,
"cds_end": null,
"cds_length": 1983,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000292246.8",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.His289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018075.5",
"protein_coding": true,
"protein_id": "ENSP00000292246.3",
"strand": false,
"transcript": "ENST00000292246.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 470,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": null,
"cds_end": null,
"cds_length": 1413,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000350459.8",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.593-2124A>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000327767.4",
"strand": false,
"transcript": "ENST00000350459.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 711,
"aa_ref": "H",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2850,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 2136,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000970566.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.His289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640625.1",
"strand": false,
"transcript": "ENST00000970566.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 699,
"aa_ref": "H",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3272,
"cdna_start": 980,
"cds_end": null,
"cds_length": 2100,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001346464.2",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.His289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333393.1",
"strand": false,
"transcript": "NM_001346464.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 699,
"aa_ref": "H",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3408,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 2100,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001346467.2",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.His289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333396.1",
"strand": false,
"transcript": "NM_001346467.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 688,
"aa_ref": "H",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 2067,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920383.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.His289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590442.1",
"strand": false,
"transcript": "ENST00000920383.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 683,
"aa_ref": "H",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3638,
"cdna_start": 977,
"cds_end": null,
"cds_length": 2052,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000910683.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.His289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580742.1",
"strand": false,
"transcript": "ENST00000910683.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 675,
"aa_ref": "H",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2692,
"cdna_start": 960,
"cds_end": null,
"cds_length": 2028,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000910688.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.His289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580747.1",
"strand": false,
"transcript": "ENST00000910688.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 671,
"aa_ref": "H",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 950,
"cds_end": null,
"cds_length": 2016,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000970567.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.His289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640626.1",
"strand": false,
"transcript": "ENST00000970567.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 670,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 1010,
"cds_end": null,
"cds_length": 2013,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000920386.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.896A>C",
"hgvs_p": "p.His299Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590445.1",
"strand": false,
"transcript": "ENST00000920386.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 660,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 980,
"cds_end": null,
"cds_length": 1983,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001346463.2",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.His289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333392.1",
"strand": false,
"transcript": "NM_001346463.2",
"transcript_support_level": null
},
{
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"aa_length": 660,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 955,
"cds_end": null,
"cds_length": 1983,
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"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
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"feature": "NM_001346468.2",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.His289Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001333397.1",
"strand": false,
"transcript": "NM_001346468.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 660,
"aa_ref": "H",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2805,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1983,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000910680.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.His289Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580739.1",
"strand": false,
"transcript": "ENST00000910680.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 660,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2929,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1983,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000910681.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.His289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580740.1",
"strand": false,
"transcript": "ENST00000910681.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 660,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2870,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1983,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000910682.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.His289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580741.1",
"strand": false,
"transcript": "ENST00000910682.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 660,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2815,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 1983,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000910692.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.His289Pro",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000580751.1",
"strand": false,
"transcript": "ENST00000910692.1",
"transcript_support_level": null
},
{
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"aa_length": 660,
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3128,
"cdna_start": 1458,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
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"feature": "ENST00000920381.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.His289Pro",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000590440.1",
"strand": false,
"transcript": "ENST00000920381.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2582,
"cdna_start": 921,
"cds_end": null,
"cds_length": 1983,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920390.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.His289Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590449.1",
"strand": false,
"transcript": "ENST00000920390.1",
"transcript_support_level": null
},
{
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"aa_length": 660,
"aa_ref": "H",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3064,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 1983,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920391.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.His289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590450.1",
"strand": false,
"transcript": "ENST00000920391.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 660,
"aa_ref": "H",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2852,
"cdna_start": 1156,
"cds_end": null,
"cds_length": 1983,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000970565.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.866A>C",
"hgvs_p": "p.His289Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640624.1",
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}
]
}