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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: 11-67401230-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67401230&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "PPP1CA",
"hgnc_id": 9281,
"hgvs_c": "c.58T>C",
"hgvs_p": "p.Ser20Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001008709.2",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TBC1D10C",
"hgnc_id": 24702,
"hgvs_c": "c.-13+2221A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000946007.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 22,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1111,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"chr": "11",
"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": 0.07371962070465088,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 341,
"aa_ref": "S",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1389,
"cdna_start": 69,
"cds_end": null,
"cds_length": 1026,
"cds_start": 58,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000312989.11",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.58T>C",
"hgvs_p": "p.Ser20Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000326031.7",
"strand": false,
"transcript": "ENST00000312989.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 330,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1421,
"cdna_start": null,
"cds_end": null,
"cds_length": 993,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002708.4",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.56-31T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376745.9",
"protein_coding": true,
"protein_id": "NP_002699.1",
"strand": false,
"transcript": "NM_002708.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 330,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1421,
"cdna_start": null,
"cds_end": null,
"cds_length": 993,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000376745.9",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.56-31T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002708.4",
"protein_coding": true,
"protein_id": "ENSP00000365936.4",
"strand": false,
"transcript": "ENST00000376745.9",
"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": 1483,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000526510.6",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "n.137-31T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000526510.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 335,
"aa_ref": "S",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1677,
"cdna_start": 375,
"cds_end": null,
"cds_length": 1008,
"cds_start": 40,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000679175.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.40T>C",
"hgvs_p": "p.Ser14Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503926.1",
"strand": false,
"transcript": "ENST00000679175.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 341,
"aa_ref": "S",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1454,
"cdna_start": 134,
"cds_end": null,
"cds_length": 1026,
"cds_start": 58,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001008709.2",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.58T>C",
"hgvs_p": "p.Ser20Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001008709.1",
"strand": false,
"transcript": "NM_001008709.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 446,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2246,
"cdna_start": null,
"cds_end": null,
"cds_length": 1341,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946007.1",
"gene_hgnc_id": 24702,
"gene_symbol": "TBC1D10C",
"hgvs_c": "c.-13+2221A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616066.1",
"strand": true,
"transcript": "ENST00000946007.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 330,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1414,
"cdna_start": null,
"cds_end": null,
"cds_length": 993,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930816.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.56-31T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600874.1",
"strand": false,
"transcript": "ENST00000930816.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 329,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1440,
"cdna_start": null,
"cds_end": null,
"cds_length": 990,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930813.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.56-31T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600872.1",
"strand": false,
"transcript": "ENST00000930813.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 311,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1364,
"cdna_start": null,
"cds_end": null,
"cds_length": 936,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896901.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.56-31T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566960.1",
"strand": false,
"transcript": "ENST00000896901.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 311,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1337,
"cdna_start": null,
"cds_end": null,
"cds_length": 936,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896903.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.56-31T>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566962.1",
"strand": false,
"transcript": "ENST00000896903.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1228,
"cdna_start": null,
"cds_end": null,
"cds_length": 888,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
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"feature": "ENST00000527663.6",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.56-31T>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000431146.2",
"strand": false,
"transcript": "ENST00000527663.6",
"transcript_support_level": 3
},
{
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"canonical": false,
"cdna_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000896899.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.56-36T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566958.1",
"strand": false,
"transcript": "ENST00000896899.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
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"feature": "NM_206873.2",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.56-311T>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_996756.1",
"strand": false,
"transcript": "NM_206873.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000358239.8",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.56-311T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350974.4",
"strand": false,
"transcript": "ENST00000358239.8",
"transcript_support_level": 2
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1290,
"cdna_start": null,
"cds_end": null,
"cds_length": 858,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896900.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.56-31T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566959.1",
"strand": false,
"transcript": "ENST00000896900.1",
"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": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000930814.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.56-31T>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000600873.1",
"strand": false,
"transcript": "ENST00000930814.1",
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},
{
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896904.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.56-311T>C",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000566963.1",
"strand": false,
"transcript": "ENST00000896904.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896902.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.56-31T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566961.1",
"strand": false,
"transcript": "ENST00000896902.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1110,
"cdna_start": null,
"cds_end": null,
"cds_length": 726,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930818.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.56-311T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600877.1",
"strand": false,
"transcript": "ENST00000930818.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 174,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 922,
"cdna_start": null,
"cds_end": null,
"cds_length": 525,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
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