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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: 16-23603641-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=23603641&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PALB2",
"hgnc_id": 26144,
"hgvs_c": "c.3379T>C",
"hgvs_p": "p.Cys1127Arg",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_024675.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.1016,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "16",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " 3, 5, familial, susceptibility to,Breast-ovarian cancer,Familial cancer of breast,Fanconi anemia complementation group N,Hereditary breast ovarian cancer syndrome,Hereditary cancer-predisposing syndrome,Ovarian cancer,Pancreatic cancer,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:8 LB:1 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05745500326156616,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "C",
"aa_start": 1127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4008,
"cdna_start": 3532,
"cds_end": null,
"cds_length": 3561,
"cds_start": 3379,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_024675.4",
"gene_hgnc_id": 26144,
"gene_symbol": "PALB2",
"hgvs_c": "c.3379T>C",
"hgvs_p": "p.Cys1127Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261584.9",
"protein_coding": true,
"protein_id": "NP_078951.2",
"strand": false,
"transcript": "NM_024675.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "C",
"aa_start": 1127,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4008,
"cdna_start": 3532,
"cds_end": null,
"cds_length": 3561,
"cds_start": 3379,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000261584.9",
"gene_hgnc_id": 26144,
"gene_symbol": "PALB2",
"hgvs_c": "c.3379T>C",
"hgvs_p": "p.Cys1127Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024675.4",
"protein_coding": true,
"protein_id": "ENSP00000261584.4",
"strand": false,
"transcript": "ENST00000261584.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 891,
"aa_ref": "C",
"aa_start": 832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3963,
"cdna_start": 3490,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2494,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000568219.5",
"gene_hgnc_id": 26144,
"gene_symbol": "PALB2",
"hgvs_c": "c.2494T>C",
"hgvs_p": "p.Cys832Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454703.2",
"strand": false,
"transcript": "ENST00000568219.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1188,
"aa_ref": "C",
"aa_start": 1129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4825,
"cdna_start": 4384,
"cds_end": null,
"cds_length": 3567,
"cds_start": 3385,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000561514.3",
"gene_hgnc_id": 26144,
"gene_symbol": "PALB2",
"hgvs_c": "c.3385T>C",
"hgvs_p": "p.Cys1129Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460666.3",
"strand": false,
"transcript": "ENST00000561514.3",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1188,
"aa_ref": "C",
"aa_start": 1129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4125,
"cdna_start": 3684,
"cds_end": null,
"cds_length": 3567,
"cds_start": 3385,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000697379.2",
"gene_hgnc_id": 26144,
"gene_symbol": "PALB2",
"hgvs_c": "c.3385T>C",
"hgvs_p": "p.Cys1129Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513287.2",
"strand": false,
"transcript": "ENST00000697379.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1166,
"aa_ref": "C",
"aa_start": 1107,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3948,
"cdna_start": 3472,
"cds_end": null,
"cds_length": 3501,
"cds_start": 3319,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001407296.1",
"gene_hgnc_id": 26144,
"gene_symbol": "PALB2",
"hgvs_c": "c.3319T>C",
"hgvs_p": "p.Cys1107Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394225.1",
"strand": false,
"transcript": "NM_001407296.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "C",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3936,
"cdna_start": 3460,
"cds_end": null,
"cds_length": 3489,
"cds_start": 3307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001407297.1",
"gene_hgnc_id": 26144,
"gene_symbol": "PALB2",
"hgvs_c": "c.3307T>C",
"hgvs_p": "p.Cys1103Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394226.1",
"strand": false,
"transcript": "NM_001407297.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "C",
"aa_start": 1103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3870,
"cdna_start": 3395,
"cds_end": null,
"cds_length": 3489,
"cds_start": 3307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000970391.1",
"gene_hgnc_id": 26144,
"gene_symbol": "PALB2",
"hgvs_c": "c.3307T>C",
"hgvs_p": "p.Cys1103Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640450.1",
"strand": false,
"transcript": "ENST00000970391.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1134,
"aa_ref": "C",
"aa_start": 1075,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4058,
"cdna_start": 3616,
"cds_end": null,
"cds_length": 3405,
"cds_start": 3223,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000697377.2",
"gene_hgnc_id": 26144,
"gene_symbol": "PALB2",
"hgvs_c": "c.3223T>C",
"hgvs_p": "p.Cys1075Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513286.2",
"strand": false,
"transcript": "ENST00000697377.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "C",
"aa_start": 1073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3846,
"cdna_start": 3370,
"cds_end": null,
"cds_length": 3399,
"cds_start": 3217,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001407298.1",
"gene_hgnc_id": 26144,
"gene_symbol": "PALB2",
"hgvs_c": "c.3217T>C",
"hgvs_p": "p.Cys1073Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394227.1",
"strand": false,
"transcript": "NM_001407298.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1132,
"aa_ref": "C",
"aa_start": 1073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3844,
"cdna_start": 3368,
"cds_end": null,
"cds_length": 3399,
"cds_start": 3217,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000916249.1",
"gene_hgnc_id": 26144,
"gene_symbol": "PALB2",
"hgvs_c": "c.3217T>C",
"hgvs_p": "p.Cys1073Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586308.1",
"strand": false,
"transcript": "ENST00000916249.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1107,
"aa_ref": "C",
"aa_start": 1048,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3771,
"cdna_start": 3295,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3142,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001407299.1",
"gene_hgnc_id": 26144,
"gene_symbol": "PALB2",
"hgvs_c": "c.3142T>C",
"hgvs_p": "p.Cys1048Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394228.1",
"strand": false,
"transcript": "NM_001407299.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1107,
"aa_ref": "C",
"aa_start": 1048,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 3296,
"cds_end": null,
"cds_length": 3324,
"cds_start": 3142,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000713774.1",
"gene_hgnc_id": 26144,
"gene_symbol": "PALB2",
"hgvs_c": "c.3142T>C",
"hgvs_p": "p.Cys1048Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519076.1",
"strand": false,
"transcript": "ENST00000713774.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1093,
"aa_ref": "C",
"aa_start": 1034,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3729,
"cdna_start": 3253,
"cds_end": null,
"cds_length": 3282,
"cds_start": 3100,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001407300.1",
"gene_hgnc_id": 26144,
"gene_symbol": "PALB2",
"hgvs_c": "c.3100T>C",
"hgvs_p": "p.Cys1034Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394229.1",
"strand": false,
"transcript": "NM_001407300.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1093,
"aa_ref": "C",
"aa_start": 1034,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3705,
"cdna_start": 3231,
"cds_end": null,
"cds_length": 3282,
"cds_start": 3100,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000916250.1",
"gene_hgnc_id": 26144,
"gene_symbol": "PALB2",
"hgvs_c": "c.3100T>C",
"hgvs_p": "p.Cys1034Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586309.1",
"strand": false,
"transcript": "ENST00000916250.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 891,
"aa_ref": "C",
"aa_start": 832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4866,
"cdna_start": 4390,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2494,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001407304.1",
"gene_hgnc_id": 26144,
"gene_symbol": "PALB2",
"hgvs_c": "c.2494T>C",
"hgvs_p": "p.Cys832Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394233.1",
"strand": false,
"transcript": "NM_001407304.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 891,
"aa_ref": "C",
"aa_start": 832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4142,
"cdna_start": 3666,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2494,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001407305.1",
"gene_hgnc_id": 26144,
"gene_symbol": "PALB2",
"hgvs_c": "c.2494T>C",
"hgvs_p": "p.Cys832Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394234.1",
"strand": false,
"transcript": "NM_001407305.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 891,
"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3991,
"cdna_start": 3515,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2494,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001407306.1",
"gene_hgnc_id": 26144,
"gene_symbol": "PALB2",
"hgvs_c": "c.2494T>C",
"hgvs_p": "p.Cys832Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394235.1",
"strand": false,
"transcript": "NM_001407306.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 891,
"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4361,
"cdna_start": 3902,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2494,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000697374.1",
"gene_hgnc_id": 26144,
"gene_symbol": "PALB2",
"hgvs_c": "c.2494T>C",
"hgvs_p": "p.Cys832Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513284.1",
"strand": false,
"transcript": "ENST00000697374.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 837,
"aa_ref": "C",
"aa_start": 778,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3980,
"cdna_start": 3504,
"cds_end": null,
"cds_length": 2514,
"cds_start": 2332,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001407307.1",
"gene_hgnc_id": 26144,
"gene_symbol": "PALB2",
"hgvs_c": "c.2332T>C",
"hgvs_p": "p.Cys778Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394236.1",
"strand": false,
"transcript": "NM_001407307.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 812,
"aa_ref": "C",
"aa_start": 753,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 3278,
"cds_end": null,
"cds_length": 2439,
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},
{
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],
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"phenotype_combined": "Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided|Ovarian cancer|Fanconi anemia complementation group N;Breast-ovarian cancer, familial, susceptibility to, 5;Pancreatic cancer, susceptibility to, 3|Hereditary breast ovarian cancer syndrome",
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}
]
}