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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: 11-72294395-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72294395&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM1",
"PM5",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CLPB",
"hgnc_id": 30664,
"hgvs_c": "c.1700A>T",
"hgvs_p": "p.Tyr567Phe",
"inheritance_mode": "AR,AD",
"pathogenic_score": 4,
"score": 3,
"transcript": "NM_030813.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000255843",
"hgnc_id": null,
"hgvs_c": "n.88-8217T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -1,
"transcript": "ENST00000794920.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM5,BP4",
"acmg_score": 3,
"allele_count_reference_population": 25,
"alphamissense_prediction": null,
"alphamissense_score": 0.2705,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " type VIIB,3-methylglutaconic aciduria",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.40595385432243347,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 707,
"aa_ref": "Y",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10053,
"cdna_start": 1757,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1700,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_030813.6",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1700A>T",
"hgvs_p": "p.Tyr567Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000294053.9",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_110440.1",
"strand": false,
"transcript": "NM_030813.6",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 707,
"aa_ref": "Y",
"aa_start": 567,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10053,
"cdna_start": 1757,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1700,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000294053.9",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1700A>T",
"hgvs_p": "p.Tyr567Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_030813.6",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000294053.3",
"strand": false,
"transcript": "ENST00000294053.9",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 677,
"aa_ref": "Y",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9963,
"cdna_start": 1667,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1610,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001258392.3",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1610A>T",
"hgvs_p": "p.Tyr537Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000538039.6",
"protein_coding": true,
"protein_id": "NP_001245321.1",
"strand": false,
"transcript": "NM_001258392.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 677,
"aa_ref": "Y",
"aa_start": 537,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9963,
"cdna_start": 1667,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1610,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000538039.6",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1610A>T",
"hgvs_p": "p.Tyr537Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001258392.3",
"protein_coding": true,
"protein_id": "ENSP00000441518.1",
"strand": false,
"transcript": "ENST00000538039.6",
"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,
"cdna_length": 1108,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000538021.5",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "n.*399A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000445180.2",
"strand": false,
"transcript": "ENST00000538021.5",
"transcript_support_level": 1
},
{
"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": 1108,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000538021.5",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "n.*399A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000445180.2",
"strand": false,
"transcript": "ENST00000538021.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 698,
"aa_ref": "Y",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 1725,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1673,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000955687.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1673A>T",
"hgvs_p": "p.Tyr558Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625746.1",
"strand": false,
"transcript": "ENST00000955687.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 692,
"aa_ref": "Y",
"aa_start": 552,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2276,
"cdna_start": 1788,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1655,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000543042.6",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1655A>T",
"hgvs_p": "p.Tyr552Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439746.2",
"strand": false,
"transcript": "ENST00000543042.6",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 688,
"aa_ref": "Y",
"aa_start": 548,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 1726,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1643,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000955683.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1643A>T",
"hgvs_p": "p.Tyr548Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625742.1",
"strand": false,
"transcript": "ENST00000955683.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 687,
"aa_ref": "Y",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3160,
"cdna_start": 1672,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000866362.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1640A>T",
"hgvs_p": "p.Tyr547Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536421.1",
"strand": false,
"transcript": "ENST00000866362.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 687,
"aa_ref": "Y",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2359,
"cdna_start": 1717,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000866363.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1640A>T",
"hgvs_p": "p.Tyr547Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536422.1",
"strand": false,
"transcript": "ENST00000866363.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 676,
"aa_ref": "Y",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2150,
"cdna_start": 1657,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1607,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000955688.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1607A>T",
"hgvs_p": "p.Tyr536Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625747.1",
"strand": false,
"transcript": "ENST00000955688.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 672,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 1660,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1595,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000955686.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1595A>T",
"hgvs_p": "p.Tyr532Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625745.1",
"strand": false,
"transcript": "ENST00000955686.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 662,
"aa_ref": "Y",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10160,
"cdna_start": 1864,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001258394.3",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1565A>T",
"hgvs_p": "p.Tyr522Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245323.1",
"strand": false,
"transcript": "NM_001258394.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 651,
"aa_ref": "Y",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2076,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1532,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000938927.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1532A>T",
"hgvs_p": "p.Tyr511Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608986.1",
"strand": false,
"transcript": "ENST00000938927.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 648,
"aa_ref": "Y",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9876,
"cdna_start": 1580,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1523,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001258393.3",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1523A>T",
"hgvs_p": "p.Tyr508Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245322.1",
"strand": false,
"transcript": "NM_001258393.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 648,
"aa_ref": "Y",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2071,
"cdna_start": 1583,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1523,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000340729.9",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1523A>T",
"hgvs_p": "p.Tyr508Phe",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340385.5",
"strand": false,
"transcript": "ENST00000340729.9",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 634,
"aa_ref": "Y",
"aa_start": 494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2067,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1481,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000955684.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1481A>T",
"hgvs_p": "p.Tyr494Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625743.1",
"strand": false,
"transcript": "ENST00000955684.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 573,
"aa_ref": "Y",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1875,
"cdna_start": 1355,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1298,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000866364.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1298A>T",
"hgvs_p": "p.Tyr433Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536423.1",
"strand": false,
"transcript": "ENST00000866364.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 381,
"aa_ref": "Y",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1421,
"cdna_start": 1372,
"cds_end": null,
"cds_length": 1146,
"cds_start": 1097,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000642288.1",
"gene_hgnc_id": 30664,
"gene_symbol": "CLPB",
"hgvs_c": "c.1097A>T",
"hgvs_p": "p.Tyr366Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495167.1",
"strand": false,
"transcript": "ENST00000642288.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 678,
"aa_ref": "Y",
"aa_start": 538,
"biotype": "protein_coding",
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