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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: 11-67400699-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67400699&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "PPP1CA",
"hgnc_id": 9281,
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Phe147Phe",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001008709.2",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TBC1D10C",
"hgnc_id": 24702,
"hgvs_c": "c.-13+1690G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000946007.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "11",
"clinvar_classification": "not provided",
"clinvar_disease": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5699999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 330,
"aa_ref": "F",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1421,
"cdna_start": 484,
"cds_end": null,
"cds_length": 993,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_002708.4",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.408C>T",
"hgvs_p": "p.Phe136Phe",
"intron_rank": null,
"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": "F",
"aa_end": null,
"aa_length": 330,
"aa_ref": "F",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1421,
"cdna_start": 484,
"cds_end": null,
"cds_length": 993,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000376745.9",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.408C>T",
"hgvs_p": "p.Phe136Phe",
"intron_rank": null,
"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": "F",
"aa_end": null,
"aa_length": 341,
"aa_ref": "F",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1389,
"cdna_start": 452,
"cds_end": null,
"cds_length": 1026,
"cds_start": 441,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000312989.11",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Phe147Phe",
"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": 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": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000526510.6",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "n.489C>T",
"hgvs_p": null,
"intron_rank": null,
"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": "F",
"aa_end": null,
"aa_length": 341,
"aa_ref": "F",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1454,
"cdna_start": 517,
"cds_end": null,
"cds_length": 1026,
"cds_start": 441,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001008709.2",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Phe147Phe",
"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": "F",
"aa_end": null,
"aa_length": 335,
"aa_ref": "F",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1677,
"cdna_start": 758,
"cds_end": null,
"cds_length": 1008,
"cds_start": 423,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000679175.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.423C>T",
"hgvs_p": "p.Phe141Phe",
"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": "F",
"aa_end": null,
"aa_length": 330,
"aa_ref": "F",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1414,
"cdna_start": 475,
"cds_end": null,
"cds_length": 993,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930816.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.408C>T",
"hgvs_p": "p.Phe136Phe",
"intron_rank": null,
"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": "F",
"aa_end": null,
"aa_length": 329,
"aa_ref": "F",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1440,
"cdna_start": 506,
"cds_end": null,
"cds_length": 990,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930813.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.408C>T",
"hgvs_p": "p.Phe136Phe",
"intron_rank": null,
"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": "F",
"aa_end": null,
"aa_length": 311,
"aa_ref": "F",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1364,
"cdna_start": 484,
"cds_end": null,
"cds_length": 936,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896901.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.408C>T",
"hgvs_p": "p.Phe136Phe",
"intron_rank": null,
"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": "F",
"aa_end": null,
"aa_length": 311,
"aa_ref": "F",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1337,
"cdna_start": 457,
"cds_end": null,
"cds_length": 936,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896903.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.408C>T",
"hgvs_p": "p.Phe136Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566962.1",
"strand": false,
"transcript": "ENST00000896903.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 295,
"aa_ref": "F",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1228,
"cdna_start": 414,
"cds_end": null,
"cds_length": 888,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000527663.6",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.408C>T",
"hgvs_p": "p.Phe136Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431146.2",
"strand": false,
"transcript": "ENST00000527663.6",
"transcript_support_level": 3
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 295,
"aa_ref": "F",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1340,
"cdna_start": 401,
"cds_end": null,
"cds_length": 888,
"cds_start": 303,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896899.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.303C>T",
"hgvs_p": "p.Phe101Phe",
"intron_rank": null,
"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
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 286,
"aa_ref": "F",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1289,
"cdna_start": 352,
"cds_end": null,
"cds_length": 861,
"cds_start": 276,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_206873.2",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Phe92Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_996756.1",
"strand": false,
"transcript": "NM_206873.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 286,
"aa_ref": "F",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1054,
"cdna_start": 365,
"cds_end": null,
"cds_length": 861,
"cds_start": 276,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000358239.8",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Phe92Phe",
"intron_rank": null,
"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
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 285,
"aa_ref": "F",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1290,
"cdna_start": 484,
"cds_end": null,
"cds_length": 858,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896900.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.408C>T",
"hgvs_p": "p.Phe136Phe",
"intron_rank": null,
"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
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 276,
"aa_ref": "F",
"aa_start": 136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1266,
"cdna_start": 491,
"cds_end": null,
"cds_length": 831,
"cds_start": 408,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930814.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.408C>T",
"hgvs_p": "p.Phe136Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600873.1",
"strand": false,
"transcript": "ENST00000930814.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 267,
"aa_ref": "F",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1198,
"cdna_start": 324,
"cds_end": null,
"cds_length": 804,
"cds_start": 276,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000896904.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Phe92Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566963.1",
"strand": false,
"transcript": "ENST00000896904.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 241,
"aa_ref": "F",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1110,
"cdna_start": 308,
"cds_end": null,
"cds_length": 726,
"cds_start": 276,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930818.1",
"gene_hgnc_id": 9281,
"gene_symbol": "PPP1CA",
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Phe92Phe",
"intron_rank": null,
"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": 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+1690G>A",
"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": 253,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1178,
"cdna_start": null,
"cds_end": null,
"cds_length": 762,
"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.187+369C>T",
"hgvs_p": null,
"intron_rank": 2,
"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,
"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,
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