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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: 16-70255792-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70255792&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AARS1",
"hgnc_id": 20,
"hgvs_c": "c.2222C>T",
"hgvs_p": "p.Thr741Met",
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_001605.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS1",
"acmg_score": -7,
"allele_count_reference_population": 225,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1382,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "16",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease type 2,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2416142225265503,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 968,
"aa_ref": "T",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3437,
"cdna_start": 2329,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001605.3",
"gene_hgnc_id": 20,
"gene_symbol": "AARS1",
"hgvs_c": "c.2222C>T",
"hgvs_p": "p.Thr741Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261772.13",
"protein_coding": true,
"protein_id": "NP_001596.2",
"strand": false,
"transcript": "NM_001605.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 968,
"aa_ref": "T",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3437,
"cdna_start": 2329,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000261772.13",
"gene_hgnc_id": 20,
"gene_symbol": "AARS1",
"hgvs_c": "c.2222C>T",
"hgvs_p": "p.Thr741Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001605.3",
"protein_coding": true,
"protein_id": "ENSP00000261772.8",
"strand": false,
"transcript": "ENST00000261772.13",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 999,
"aa_ref": "T",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": 2380,
"cds_end": null,
"cds_length": 3000,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000565361.3",
"gene_hgnc_id": 20,
"gene_symbol": "AARS1",
"hgvs_c": "c.2222C>T",
"hgvs_p": "p.Thr741Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455360.3",
"strand": false,
"transcript": "ENST00000565361.3",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 999,
"aa_ref": "T",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3372,
"cdna_start": 2260,
"cds_end": null,
"cds_length": 3000,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000896288.1",
"gene_hgnc_id": 20,
"gene_symbol": "AARS1",
"hgvs_c": "c.2222C>T",
"hgvs_p": "p.Thr741Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566347.1",
"strand": false,
"transcript": "ENST00000896288.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 984,
"aa_ref": "T",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3527,
"cdna_start": 2380,
"cds_end": null,
"cds_length": 2955,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000675853.1",
"gene_hgnc_id": 20,
"gene_symbol": "AARS1",
"hgvs_c": "c.2222C>T",
"hgvs_p": "p.Thr741Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502367.1",
"strand": false,
"transcript": "ENST00000675853.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 984,
"aa_ref": "T",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3329,
"cdna_start": 2269,
"cds_end": null,
"cds_length": 2955,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000951926.1",
"gene_hgnc_id": 20,
"gene_symbol": "AARS1",
"hgvs_c": "c.2222C>T",
"hgvs_p": "p.Thr741Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621985.1",
"strand": false,
"transcript": "ENST00000951926.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 977,
"aa_ref": "T",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3508,
"cdna_start": 2407,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2249,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000675045.1",
"gene_hgnc_id": 20,
"gene_symbol": "AARS1",
"hgvs_c": "c.2249C>T",
"hgvs_p": "p.Thr750Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502014.1",
"strand": false,
"transcript": "ENST00000675045.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 968,
"aa_ref": "T",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3494,
"cdna_start": 2358,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000674691.1",
"gene_hgnc_id": 20,
"gene_symbol": "AARS1",
"hgvs_c": "c.2222C>T",
"hgvs_p": "p.Thr741Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502247.1",
"strand": false,
"transcript": "ENST00000674691.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 968,
"aa_ref": "T",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3717,
"cdna_start": 2294,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000674963.1",
"gene_hgnc_id": 20,
"gene_symbol": "AARS1",
"hgvs_c": "c.2222C>T",
"hgvs_p": "p.Thr741Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501924.1",
"strand": false,
"transcript": "ENST00000674963.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 968,
"aa_ref": "T",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3768,
"cdna_start": 2345,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000675643.1",
"gene_hgnc_id": 20,
"gene_symbol": "AARS1",
"hgvs_c": "c.2222C>T",
"hgvs_p": "p.Thr741Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502797.1",
"strand": false,
"transcript": "ENST00000675643.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 968,
"aa_ref": "T",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3419,
"cdna_start": 2308,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000896284.1",
"gene_hgnc_id": 20,
"gene_symbol": "AARS1",
"hgvs_c": "c.2222C>T",
"hgvs_p": "p.Thr741Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566343.1",
"strand": false,
"transcript": "ENST00000896284.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 968,
"aa_ref": "T",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3584,
"cdna_start": 2476,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000896291.1",
"gene_hgnc_id": 20,
"gene_symbol": "AARS1",
"hgvs_c": "c.2222C>T",
"hgvs_p": "p.Thr741Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566350.1",
"strand": false,
"transcript": "ENST00000896291.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 968,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 2396,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000934581.1",
"gene_hgnc_id": 20,
"gene_symbol": "AARS1",
"hgvs_c": "c.2222C>T",
"hgvs_p": "p.Thr741Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604640.1",
"strand": false,
"transcript": "ENST00000934581.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 968,
"aa_ref": "T",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3418,
"cdna_start": 2403,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000934584.1",
"gene_hgnc_id": 20,
"gene_symbol": "AARS1",
"hgvs_c": "c.2222C>T",
"hgvs_p": "p.Thr741Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604643.1",
"strand": false,
"transcript": "ENST00000934584.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 968,
"aa_ref": "T",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3454,
"cdna_start": 2343,
"cds_end": null,
"cds_length": 2907,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000951922.1",
"gene_hgnc_id": 20,
"gene_symbol": "AARS1",
"hgvs_c": "c.2222C>T",
"hgvs_p": "p.Thr741Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621981.1",
"strand": false,
"transcript": "ENST00000951922.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 967,
"aa_ref": "T",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3484,
"cdna_start": 2375,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2219,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000951923.1",
"gene_hgnc_id": 20,
"gene_symbol": "AARS1",
"hgvs_c": "c.2219C>T",
"hgvs_p": "p.Thr740Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621982.1",
"strand": false,
"transcript": "ENST00000951923.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 965,
"aa_ref": "T",
"aa_start": 738,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3459,
"cdna_start": 2346,
"cds_end": null,
"cds_length": 2898,
"cds_start": 2213,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000951924.1",
"gene_hgnc_id": 20,
"gene_symbol": "AARS1",
"hgvs_c": "c.2213C>T",
"hgvs_p": "p.Thr738Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621983.1",
"strand": false,
"transcript": "ENST00000951924.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 963,
"aa_ref": "T",
"aa_start": 736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3463,
"cdna_start": 2355,
"cds_end": null,
"cds_length": 2892,
"cds_start": 2207,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000896285.1",
"gene_hgnc_id": 20,
"gene_symbol": "AARS1",
"hgvs_c": "c.2207C>T",
"hgvs_p": "p.Thr736Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566344.1",
"strand": false,
"transcript": "ENST00000896285.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 961,
"aa_ref": "T",
"aa_start": 734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3458,
"cdna_start": 2357,
"cds_end": null,
"cds_length": 2886,
"cds_start": 2201,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000674512.1",
"gene_hgnc_id": 20,
"gene_symbol": "AARS1",
"hgvs_c": "c.2201C>T",
"hgvs_p": "p.Thr734Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501613.1",
"strand": false,
"transcript": "ENST00000674512.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 959,
"aa_ref": "T",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 2351,
"cds_end": null,
"cds_length": 2880,
"cds_start": 2195,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000675133.1",
"gene_hgnc_id": 20,
"gene_symbol": "AARS1",
"hgvs_c": "c.2195C>T",
"hgvs_p": "p.Thr732Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502230.1",
"strand": false,
"transcript": "ENST00000675133.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 951,
"aa_ref": "T",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3384,
"cdna_start": 2278,
"cds_end": null,
"cds_length": 2856,
"cds_start": 2171,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
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]
}