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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: 10-69187722-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=69187722&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "SUPV3L1",
"hgnc_id": 11471,
"hgvs_c": "c.-372C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001323587.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 38,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1558,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.06,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8044586181640625,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 786,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2477,
"cdna_start": 596,
"cds_end": null,
"cds_length": 2361,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_003171.5",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000359655.9",
"protein_coding": true,
"protein_id": "NP_003162.2",
"strand": true,
"transcript": "NM_003171.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 786,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2477,
"cdna_start": 596,
"cds_end": null,
"cds_length": 2361,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000359655.9",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003171.5",
"protein_coding": true,
"protein_id": "ENSP00000352678.4",
"strand": true,
"transcript": "ENST00000359655.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2392,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000471069.5",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "n.580C>T",
"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": "ENST00000471069.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 457,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": null,
"cds_end": null,
"cds_length": 1374,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001323587.2",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "c.-372C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310516.1",
"strand": true,
"transcript": "NM_001323587.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 457,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": null,
"cds_end": null,
"cds_length": 1374,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001323588.2",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "c.-372C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310517.1",
"strand": true,
"transcript": "NM_001323588.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 822,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2583,
"cdna_start": 583,
"cds_end": null,
"cds_length": 2469,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000956079.1",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626138.1",
"strand": true,
"transcript": "ENST00000956079.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 785,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2471,
"cdna_start": 593,
"cds_end": null,
"cds_length": 2358,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917552.1",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587611.1",
"strand": true,
"transcript": "ENST00000917552.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 784,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2451,
"cdna_start": 580,
"cds_end": null,
"cds_length": 2355,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000956080.1",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626139.1",
"strand": true,
"transcript": "ENST00000956080.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 775,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": 551,
"cds_end": null,
"cds_length": 2328,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000854047.1",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524106.1",
"strand": true,
"transcript": "ENST00000854047.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 772,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": 593,
"cds_end": null,
"cds_length": 2319,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000854044.1",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524103.1",
"strand": true,
"transcript": "ENST00000854044.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 760,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2362,
"cdna_start": 485,
"cds_end": null,
"cds_length": 2283,
"cds_start": 460,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000854046.1",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "c.460C>T",
"hgvs_p": "p.Arg154Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524105.1",
"strand": true,
"transcript": "ENST00000854046.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 759,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": 563,
"cds_end": null,
"cds_length": 2280,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000956081.1",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626140.1",
"strand": true,
"transcript": "ENST00000956081.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2377,
"cdna_start": 583,
"cds_end": null,
"cds_length": 2274,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917553.1",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587612.1",
"strand": true,
"transcript": "ENST00000917553.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 724,
"aa_ref": "R",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2269,
"cdna_start": 373,
"cds_end": null,
"cds_length": 2175,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000917555.1",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "c.352C>T",
"hgvs_p": "p.Arg118Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587614.1",
"strand": true,
"transcript": "ENST00000917555.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 721,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2267,
"cdna_start": 583,
"cds_end": null,
"cds_length": 2166,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000854045.1",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524104.1",
"strand": true,
"transcript": "ENST00000854045.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 692,
"aa_ref": "R",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2182,
"cdna_start": 583,
"cds_end": null,
"cds_length": 2079,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917554.1",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "c.538C>T",
"hgvs_p": "p.Arg180Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587613.1",
"strand": true,
"transcript": "ENST00000917554.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 665,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2685,
"cdna_start": 804,
"cds_end": null,
"cds_length": 1998,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001323585.2",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310514.1",
"strand": true,
"transcript": "NM_001323585.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 665,
"aa_ref": "R",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2550,
"cdna_start": 669,
"cds_end": null,
"cds_length": 1998,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001323586.2",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310515.1",
"strand": true,
"transcript": "NM_001323586.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2612,
"cdna_start": 731,
"cds_end": null,
"cds_length": 1968,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001301683.2",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288612.1",
"strand": true,
"transcript": "NM_001301683.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 655,
"aa_ref": "R",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": 644,
"cds_end": null,
"cds_length": 1968,
"cds_start": 145,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001323584.2",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "c.145C>T",
"hgvs_p": "p.Arg49Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310513.1",
"strand": true,
"transcript": "NM_001323584.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 457,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": null,
"cds_end": null,
"cds_length": 1374,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001323587.2",
"gene_hgnc_id": 11471,
"gene_symbol": "SUPV3L1",
"hgvs_c": "c.-372C>T",
"hgvs_p": null,
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}