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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: 1-182469951-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=182469951&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RGSL1",
"hgnc_id": 18636,
"hgvs_c": "c.302-1331A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001366934.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 11953,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.97,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9700000286102295,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1076,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3735,
"cdna_start": null,
"cds_end": null,
"cds_length": 3231,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001137669.2",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
"hgvs_c": "c.302-2445A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000294854.13",
"protein_coding": true,
"protein_id": "NP_001131141.1",
"strand": true,
"transcript": "NM_001137669.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1076,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3735,
"cdna_start": null,
"cds_end": null,
"cds_length": 3231,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000294854.13",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
"hgvs_c": "c.302-2445A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001137669.2",
"protein_coding": true,
"protein_id": "ENSP00000457748.1",
"strand": true,
"transcript": "ENST00000294854.13",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1111,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3840,
"cdna_start": null,
"cds_end": null,
"cds_length": 3336,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366934.1",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
"hgvs_c": "c.302-1331A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353863.1",
"strand": true,
"transcript": "NM_001366934.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 165,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 723,
"cdna_start": null,
"cds_end": null,
"cds_length": 500,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000634679.1",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
"hgvs_c": "c.-56-2445A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489502.1",
"strand": true,
"transcript": "ENST00000634679.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 80,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 481,
"cdna_start": null,
"cds_end": null,
"cds_length": 244,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000634758.1",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
"hgvs_c": "c.-68-3624A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000488942.1",
"strand": true,
"transcript": "ENST00000634758.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 63,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 767,
"cdna_start": null,
"cds_end": null,
"cds_length": 192,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000437548.5",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
"hgvs_c": "c.-5-1331A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454969.1",
"strand": true,
"transcript": "ENST00000437548.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 36,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 577,
"cdna_start": null,
"cds_end": null,
"cds_length": 113,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000634723.1",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
"hgvs_c": "c.-5-1331A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489611.1",
"strand": true,
"transcript": "ENST00000634723.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 30,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 532,
"cdna_start": null,
"cds_end": null,
"cds_length": 95,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000634626.1",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
"hgvs_c": "c.-5-1331A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489498.1",
"strand": true,
"transcript": "ENST00000634626.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 28,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 555,
"cdna_start": null,
"cds_end": null,
"cds_length": 89,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000447374.5",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
"hgvs_c": "c.-5-1331A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454981.1",
"strand": true,
"transcript": "ENST00000447374.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1108,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3984,
"cdna_start": null,
"cds_end": null,
"cds_length": 3327,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017001188.2",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
"hgvs_c": "c.302-1331A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856677.1",
"strand": true,
"transcript": "XM_017001188.2",
"transcript_support_level": null
},
{
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"aa_length": 1098,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3853,
"cdna_start": null,
"cds_end": null,
"cds_length": 3297,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017001189.2",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
"hgvs_c": "c.263-1331A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856678.1",
"strand": true,
"transcript": "XM_017001189.2",
"transcript_support_level": null
},
{
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"aa_length": 1098,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4657,
"cdna_start": null,
"cds_end": null,
"cds_length": 3297,
"cds_start": null,
"consequences": [
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],
"exon_count": 23,
"exon_rank": null,
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"feature": "XM_017001190.2",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
"hgvs_c": "c.263-1331A>G",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856679.1",
"strand": true,
"transcript": "XM_017001190.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
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"feature": "XM_017001191.1",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016856680.1",
"strand": true,
"transcript": "XM_017001191.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 3922,
"cdna_start": null,
"cds_end": null,
"cds_length": 3297,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017001192.3",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
"hgvs_c": "c.263-1331A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856681.1",
"strand": true,
"transcript": "XM_017001192.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 23,
"exon_rank": null,
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"feature": "XM_017001193.3",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
"hgvs_c": "c.263-1331A>G",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856682.1",
"strand": true,
"transcript": "XM_017001193.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011509494.3",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
"hgvs_c": "c.302-1331A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011507796.1",
"strand": true,
"transcript": "XM_011509494.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 3030,
"cds_start": null,
"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047419632.1",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
"hgvs_c": "c.-5-1331A>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047275588.1",
"strand": true,
"transcript": "XM_047419632.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
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"exon_rank": null,
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"feature": "XM_047419638.1",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
"hgvs_c": "c.302-1331A>G",
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"protein_coding": true,
"protein_id": "XP_047275594.1",
"strand": true,
"transcript": "XM_047419638.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 14,
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"feature": "XM_011509500.2",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
"hgvs_c": "c.302-1331A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011507802.1",
"strand": true,
"transcript": "XM_011509500.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_length": 1800,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017001196.1",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
"hgvs_c": "c.-1+9818A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856685.1",
"strand": true,
"transcript": "XM_017001196.1",
"transcript_support_level": null
},
{
"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": 2044,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367561.9",
"gene_hgnc_id": 18636,
"gene_symbol": "RGSL1",
"hgvs_c": "n.346-1331A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000367561.9",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
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