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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: 21-37511971-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=37511971&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DYRK1A",
"hgnc_id": 3091,
"hgvs_c": "c.1732A>G",
"hgvs_p": "p.Thr578Ala",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_001396.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2",
"acmg_score": -7,
"allele_count_reference_population": 94,
"alphamissense_prediction": null,
"alphamissense_score": 0.0661,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "21",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "DYRK1A-related intellectual disability syndrome,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.12241661548614502,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 754,
"aa_ref": "T",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17024,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001347721.2",
"gene_hgnc_id": 3091,
"gene_symbol": "DYRK1A",
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Thr569Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000647188.2",
"protein_coding": true,
"protein_id": "NP_001334650.1",
"strand": true,
"transcript": "NM_001347721.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 754,
"aa_ref": "T",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 17024,
"cdna_start": 2637,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000647188.2",
"gene_hgnc_id": 3091,
"gene_symbol": "DYRK1A",
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Thr569Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001347721.2",
"protein_coding": true,
"protein_id": "ENSP00000494572.1",
"strand": true,
"transcript": "ENST00000647188.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 763,
"aa_ref": "T",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2782,
"cdna_start": 1832,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000398960.7",
"gene_hgnc_id": 3091,
"gene_symbol": "DYRK1A",
"hgvs_c": "c.1732A>G",
"hgvs_p": "p.Thr578Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381932.2",
"strand": true,
"transcript": "ENST00000398960.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 584,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5518,
"cdna_start": null,
"cds_end": null,
"cds_length": 1755,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000338785.8",
"gene_hgnc_id": 3091,
"gene_symbol": "DYRK1A",
"hgvs_c": "c.*108A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342690.3",
"strand": true,
"transcript": "ENST00000338785.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 763,
"aa_ref": "T",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16457,
"cdna_start": 2070,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001396.5",
"gene_hgnc_id": 3091,
"gene_symbol": "DYRK1A",
"hgvs_c": "c.1732A>G",
"hgvs_p": "p.Thr578Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387.2",
"strand": true,
"transcript": "NM_001396.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 763,
"aa_ref": "T",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3137,
"cdna_start": 2336,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000644942.1",
"gene_hgnc_id": 3091,
"gene_symbol": "DYRK1A",
"hgvs_c": "c.1732A>G",
"hgvs_p": "p.Thr578Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494544.1",
"strand": true,
"transcript": "ENST00000644942.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 763,
"aa_ref": "T",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5039,
"cdna_start": 1837,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000865096.1",
"gene_hgnc_id": 3091,
"gene_symbol": "DYRK1A",
"hgvs_c": "c.1732A>G",
"hgvs_p": "p.Thr578Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535155.1",
"strand": true,
"transcript": "ENST00000865096.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 763,
"aa_ref": "T",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5355,
"cdna_start": 1948,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000865098.1",
"gene_hgnc_id": 3091,
"gene_symbol": "DYRK1A",
"hgvs_c": "c.1732A>G",
"hgvs_p": "p.Thr578Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535157.1",
"strand": true,
"transcript": "ENST00000865098.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 754,
"aa_ref": "T",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16281,
"cdna_start": 1894,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001347722.2",
"gene_hgnc_id": 3091,
"gene_symbol": "DYRK1A",
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Thr569Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334651.1",
"strand": true,
"transcript": "NM_001347722.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 754,
"aa_ref": "T",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6580,
"cdna_start": 3175,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_130436.2",
"gene_hgnc_id": 3091,
"gene_symbol": "DYRK1A",
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Thr569Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_569120.1",
"strand": true,
"transcript": "NM_130436.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 754,
"aa_ref": "T",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2881,
"cdna_start": 1905,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000643624.1",
"gene_hgnc_id": 3091,
"gene_symbol": "DYRK1A",
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Thr569Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493627.1",
"strand": true,
"transcript": "ENST00000643624.1",
"transcript_support_level": null
},
{
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"aa_length": 754,
"aa_ref": "T",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 17562,
"cdna_start": 3175,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1705,
"consequences": [
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],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000646548.1",
"gene_hgnc_id": 3091,
"gene_symbol": "DYRK1A",
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Thr569Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495908.1",
"strand": true,
"transcript": "ENST00000646548.1",
"transcript_support_level": null
},
{
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2737,
"cdna_start": 2177,
"cds_end": null,
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"cds_start": 1705,
"consequences": [
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],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000647425.1",
"gene_hgnc_id": 3091,
"gene_symbol": "DYRK1A",
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Thr569Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496748.1",
"strand": true,
"transcript": "ENST00000647425.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 754,
"aa_ref": "T",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5150,
"cdna_start": 1952,
"cds_end": null,
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"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000865097.1",
"gene_hgnc_id": 3091,
"gene_symbol": "DYRK1A",
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Thr569Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535156.1",
"strand": true,
"transcript": "ENST00000865097.1",
"transcript_support_level": null
},
{
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"aa_length": 754,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3468,
"cdna_start": 1810,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000865099.1",
"gene_hgnc_id": 3091,
"gene_symbol": "DYRK1A",
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Thr569Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535158.1",
"strand": true,
"transcript": "ENST00000865099.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 754,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2814,
"cdna_start": 1829,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000865100.1",
"gene_hgnc_id": 3091,
"gene_symbol": "DYRK1A",
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Thr569Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535159.1",
"strand": true,
"transcript": "ENST00000865100.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5083,
"cdna_start": 1882,
"cds_end": null,
"cds_length": 2265,
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"consequences": [
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],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000919132.1",
"gene_hgnc_id": 3091,
"gene_symbol": "DYRK1A",
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Thr569Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589191.1",
"strand": true,
"transcript": "ENST00000919132.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 16938,
"cdna_start": 2551,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001347723.2",
"gene_hgnc_id": 3091,
"gene_symbol": "DYRK1A",
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334652.1",
"strand": true,
"transcript": "NM_001347723.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5591,
"cdna_start": 2390,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1618,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000647504.1",
"gene_hgnc_id": 3091,
"gene_symbol": "DYRK1A",
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495571.1",
"strand": true,
"transcript": "ENST00000647504.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 604,
"aa_ref": "T",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 2070,
"cds_end": null,
"cds_length": 1815,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000646523.1",
"gene_hgnc_id": 3091,
"gene_symbol": "DYRK1A",
"hgvs_c": "c.1732A>G",
"hgvs_p": "p.Thr578Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495632.1",
"strand": true,
"transcript": "ENST00000646523.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 584,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5517,
"cdna_start": null,
"cds_end": null,
"cds_length": 1755,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
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]
}