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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: 3-43555387-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=43555387&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ANO10",
"hgnc_id": 25519,
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001346464.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_score": -13,
"allele_count_reference_population": 486,
"alphamissense_prediction": null,
"alphamissense_score": 0.0907,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "3",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Autosomal recessive spinocerebellar ataxia 10,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.029285967350006104,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 660,
"aa_ref": "A",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1559,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_018075.5",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
"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": "V",
"aa_end": null,
"aa_length": 660,
"aa_ref": "A",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1559,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000292246.8",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
"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": "V",
"aa_end": null,
"aa_length": 470,
"aa_ref": "A",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": 1057,
"cds_end": null,
"cds_length": 1413,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000350459.8",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Ala330Val",
"intron_rank": null,
"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": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "A",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2850,
"cdna_start": 1717,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1559,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000970566.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
"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": "V",
"aa_end": null,
"aa_length": 699,
"aa_ref": "A",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3272,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1559,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001346464.2",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
"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": "V",
"aa_end": null,
"aa_length": 699,
"aa_ref": "A",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3408,
"cdna_start": 1809,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1559,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001346467.2",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
"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": "V",
"aa_end": null,
"aa_length": 688,
"aa_ref": "A",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1559,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000920383.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
"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": "V",
"aa_end": null,
"aa_length": 683,
"aa_ref": "A",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3638,
"cdna_start": 1670,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1559,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000910683.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
"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": "V",
"aa_end": null,
"aa_length": 675,
"aa_ref": "A",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2692,
"cdna_start": 1653,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1559,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000910688.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
"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
},
{
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"aa_length": 671,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 1643,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1559,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000970567.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640626.1",
"strand": false,
"transcript": "ENST00000970567.1",
"transcript_support_level": null
},
{
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"aa_length": 670,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 1703,
"cds_end": null,
"cds_length": 2013,
"cds_start": 1589,
"consequences": [
"missense_variant"
],
"exon_count": 14,
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"exon_rank_end": null,
"feature": "ENST00000920386.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.1589C>T",
"hgvs_p": "p.Ala530Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590445.1",
"strand": false,
"transcript": "ENST00000920386.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 1673,
"cds_end": null,
"cds_length": 1983,
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"consequences": [
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],
"exon_count": 13,
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"feature": "NM_001346463.2",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001333392.1",
"strand": false,
"transcript": "NM_001346463.2",
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},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "NM_001346468.2",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
"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": "V",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1803,
"cds_end": null,
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"consequences": [
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],
"exon_count": 14,
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"exon_rank_end": null,
"feature": "ENST00000910680.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
"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
},
{
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"biotype": "protein_coding",
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"cdna_start": 1955,
"cds_end": null,
"cds_length": 1983,
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"consequences": [
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],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000910681.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
"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
},
{
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"aa_length": 660,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2870,
"cdna_start": 1866,
"cds_end": null,
"cds_length": 1983,
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"consequences": [
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],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000910682.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
"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": "V",
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"aa_ref": "A",
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"biotype": "protein_coding",
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],
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"feature": "ENST00000910692.1",
"gene_hgnc_id": 25519,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000580751.1",
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"transcript": "ENST00000910692.1",
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},
{
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"cds_end": null,
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],
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"exon_rank_end": null,
"feature": "ENST00000920381.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590440.1",
"strand": false,
"transcript": "ENST00000920381.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"biotype": "protein_coding",
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"cdna_start": 1614,
"cds_end": null,
"cds_length": 1983,
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"consequences": [
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],
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"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000920390.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590449.1",
"strand": false,
"transcript": "ENST00000920390.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 660,
"aa_ref": "A",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3064,
"cdna_start": 2082,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1559,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000920391.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
"hgvs_c": "c.1559C>T",
"hgvs_p": "p.Ala520Val",
"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": "V",
"aa_end": null,
"aa_length": 660,
"aa_ref": "A",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2852,
"cdna_start": 1849,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1559,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000970565.1",
"gene_hgnc_id": 25519,
"gene_symbol": "ANO10",
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"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 3,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Autosomal recessive spinocerebellar ataxia 10|not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.268,
"pos": 43555387,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.136,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.03999999910593033,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.04,
"transcript": "NM_001346464.2"
}
]
}