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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: 19-45364887-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45364887&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ERCC2",
"hgnc_id": 3434,
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Ala182Val",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_000400.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP6,BS1,BS2",
"acmg_score": -9,
"allele_count_reference_population": 973,
"alphamissense_prediction": null,
"alphamissense_score": 0.0707,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.23,
"chr": "19",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " group D,Hepatoblastoma,Xeroderma pigmentosum,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:1 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.013029754161834717,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 760,
"aa_ref": "A",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4108,
"cdna_start": 578,
"cds_end": null,
"cds_length": 2283,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000400.4",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Ala182Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000391945.10",
"protein_coding": true,
"protein_id": "NP_000391.1",
"strand": false,
"transcript": "NM_000400.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 760,
"aa_ref": "A",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4108,
"cdna_start": 578,
"cds_end": null,
"cds_length": 2283,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000391945.10",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Ala182Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000400.4",
"protein_coding": true,
"protein_id": "ENSP00000375809.4",
"strand": false,
"transcript": "ENST00000391945.10",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 829,
"aa_ref": "A",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2853,
"cdna_start": 593,
"cds_end": null,
"cds_length": 2490,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000391944.8",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Ala182Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375808.4",
"strand": false,
"transcript": "ENST00000391944.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 705,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2871,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 2118,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000391941.6",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375805.2",
"strand": false,
"transcript": "ENST00000391941.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 405,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1538,
"cdna_start": 692,
"cds_end": null,
"cds_length": 1218,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000485403.6",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431229.2",
"strand": false,
"transcript": "ENST00000485403.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 792,
"aa_ref": "A",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 578,
"cds_end": null,
"cds_length": 2379,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891927.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Ala182Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561986.1",
"strand": false,
"transcript": "ENST00000891927.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 759,
"aa_ref": "A",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2345,
"cdna_start": 578,
"cds_end": null,
"cds_length": 2280,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000965097.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Ala182Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635156.1",
"strand": false,
"transcript": "ENST00000965097.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 758,
"aa_ref": "A",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4175,
"cdna_start": 587,
"cds_end": null,
"cds_length": 2277,
"cds_start": 545,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891925.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.545C>T",
"hgvs_p": "p.Ala182Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561984.1",
"strand": false,
"transcript": "ENST00000891925.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 736,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4173,
"cdna_start": 643,
"cds_end": null,
"cds_length": 2211,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001440355.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427284.1",
"strand": false,
"transcript": "NM_001440355.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 734,
"aa_ref": "A",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4030,
"cdna_start": 500,
"cds_end": null,
"cds_length": 2205,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001440356.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427285.1",
"strand": false,
"transcript": "NM_001440356.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 734,
"aa_ref": "A",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4109,
"cdna_start": 519,
"cds_end": null,
"cds_length": 2205,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000891924.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561983.1",
"strand": false,
"transcript": "ENST00000891924.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 732,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 519,
"cds_end": null,
"cds_length": 2199,
"cds_start": 467,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000891926.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.467C>T",
"hgvs_p": "p.Ala156Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561985.1",
"strand": false,
"transcript": "ENST00000891926.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 719,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4008,
"cdna_start": 478,
"cds_end": null,
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"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001440357.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427286.1",
"strand": false,
"transcript": "NM_001440357.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 719,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4013,
"cdna_start": 493,
"cds_end": null,
"cds_length": 2160,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000684407.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Ala141Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507775.1",
"strand": false,
"transcript": "ENST00000684407.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 405,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1704,
"cdna_start": 881,
"cds_end": null,
"cds_length": 1218,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001130867.2",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001124339.1",
"strand": false,
"transcript": "NM_001130867.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 291,
"aa_ref": "A",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1015,
"cdna_start": 611,
"cds_end": null,
"cds_length": 877,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000586131.6",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464887.1",
"strand": false,
"transcript": "ENST00000586131.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 682,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3923,
"cdna_start": null,
"cds_end": null,
"cds_length": 2049,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913228.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.361-340C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583287.1",
"strand": false,
"transcript": "ENST00000913228.1",
"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": 3866,
"cdna_start": null,
"cds_end": null,
"cds_length": 1971,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913227.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.283-340C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583286.1",
"strand": false,
"transcript": "ENST00000913227.1",
"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": 682,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000586441.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "n.537C>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": "ENST00000586441.1",
"transcript_support_level": 5
},
{
"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": 3119,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000646507.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "n.642C>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": "ENST00000646507.1",
"transcript_support_level": null
},
{
"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": 3110,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000682414.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "n.545C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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