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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: 1-202348904-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=202348904&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PPP1R12B",
"hgnc_id": 7619,
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001331029.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 33,
"alphamissense_prediction": null,
"alphamissense_score": 0.6913,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.20069947838783264,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 982,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15244,
"cdna_start": 206,
"cds_end": null,
"cds_length": 2949,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_002481.4",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000608999.6",
"protein_coding": true,
"protein_id": "NP_002472.2",
"strand": true,
"transcript": "NM_002481.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 982,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 15244,
"cdna_start": 206,
"cds_end": null,
"cds_length": 2949,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000608999.6",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002481.4",
"protein_coding": true,
"protein_id": "ENSP00000476755.1",
"strand": true,
"transcript": "ENST00000608999.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 515,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1808,
"cdna_start": 185,
"cds_end": null,
"cds_length": 1548,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000480184.5",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417159.1",
"strand": true,
"transcript": "ENST00000480184.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 386,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1687,
"cdna_start": 177,
"cds_end": null,
"cds_length": 1161,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000356764.6",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349206.2",
"strand": true,
"transcript": "ENST00000356764.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15427,
"cdna_start": 206,
"cds_end": null,
"cds_length": 3132,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001331029.2",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317958.1",
"strand": true,
"transcript": "NM_001331029.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1043,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15431,
"cdna_start": 206,
"cds_end": null,
"cds_length": 3132,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000391959.5",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375821.5",
"strand": true,
"transcript": "ENST00000391959.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11324,
"cdna_start": 239,
"cds_end": null,
"cds_length": 3129,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000969198.1",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639257.1",
"strand": true,
"transcript": "ENST00000969198.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 998,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15425,
"cdna_start": 206,
"cds_end": null,
"cds_length": 2997,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001410283.1",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397212.1",
"strand": true,
"transcript": "NM_001410283.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 998,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5246,
"cdna_start": 139,
"cds_end": null,
"cds_length": 2997,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000704899.1",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516058.1",
"strand": true,
"transcript": "ENST00000704899.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 981,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9709,
"cdna_start": 210,
"cds_end": null,
"cds_length": 2946,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000969199.1",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639258.1",
"strand": true,
"transcript": "ENST00000969199.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 979,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5408,
"cdna_start": 197,
"cds_end": null,
"cds_length": 2940,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000969200.1",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639259.1",
"strand": true,
"transcript": "ENST00000969200.1",
"transcript_support_level": null
},
{
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"aa_length": 515,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1829,
"cdna_start": 206,
"cds_end": null,
"cds_length": 1548,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001167857.2",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161329.1",
"strand": true,
"transcript": "NM_001167857.2",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1716,
"cdna_start": 206,
"cds_end": null,
"cds_length": 1161,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001167858.2",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001161330.1",
"strand": true,
"transcript": "NM_001167858.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1059,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3379,
"cdna_start": 206,
"cds_end": null,
"cds_length": 3180,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017001342.2",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856831.1",
"strand": true,
"transcript": "XM_017001342.2",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3376,
"cdna_start": 206,
"cds_end": null,
"cds_length": 3177,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017001343.2",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856832.1",
"strand": true,
"transcript": "XM_017001343.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1042,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15424,
"cdna_start": 206,
"cds_end": null,
"cds_length": 3129,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017001345.2",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856834.1",
"strand": true,
"transcript": "XM_017001345.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 896,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2952,
"cdna_start": 206,
"cds_end": null,
"cds_length": 2691,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047421209.1",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277165.1",
"strand": true,
"transcript": "XM_047421209.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1949,
"cdna_start": 206,
"cds_end": null,
"cds_length": 1683,
"cds_start": 53,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_005245206.5",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "c.53G>A",
"hgvs_p": "p.Arg18Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245263.1",
"strand": true,
"transcript": "XM_005245206.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1681,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000476364.5",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "n.53G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000417814.1",
"strand": true,
"transcript": "ENST00000476364.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3116,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XR_001737195.2",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "n.206G>A",
"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": "XR_001737195.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3049,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XR_001737196.3",
"gene_hgnc_id": 7619,
"gene_symbol": "PPP1R12B",
"hgvs_c": "n.206G>A",
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