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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: 19-45368655-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45368655&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PM5",
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ERCC2",
"hgnc_id": 3434,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112His",
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_000400.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PM5,PP3_Moderate,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 40,
"alphamissense_prediction": null,
"alphamissense_score": 0.9721,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.4,
"chr": "19",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " group D, photosensitive,Cerebrooculofacioskeletal syndrome 2,Trichothiodystrophy 1,Xeroderma pigmentosum,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9180717468261719,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 760,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4108,
"cdna_start": 368,
"cds_end": null,
"cds_length": 2283,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000400.4",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112His",
"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": "H",
"aa_end": null,
"aa_length": 760,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4108,
"cdna_start": 368,
"cds_end": null,
"cds_length": 2283,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000391945.10",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112His",
"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": "H",
"aa_end": null,
"aa_length": 829,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2853,
"cdna_start": 383,
"cds_end": null,
"cds_length": 2490,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000391944.8",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112His",
"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": "H",
"aa_end": null,
"aa_length": 705,
"aa_ref": "R",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2871,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 2118,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000391941.6",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.263G>A",
"hgvs_p": "p.Arg88His",
"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": "H",
"aa_end": null,
"aa_length": 405,
"aa_ref": "R",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1538,
"cdna_start": 482,
"cds_end": null,
"cds_length": 1218,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000485403.6",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.263G>A",
"hgvs_p": "p.Arg88His",
"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": "H",
"aa_end": null,
"aa_length": 792,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 368,
"cds_end": null,
"cds_length": 2379,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000891927.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112His",
"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": "H",
"aa_end": null,
"aa_length": 759,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2345,
"cdna_start": 368,
"cds_end": null,
"cds_length": 2280,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000965097.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112His",
"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": "H",
"aa_end": null,
"aa_length": 758,
"aa_ref": "R",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4175,
"cdna_start": 377,
"cds_end": null,
"cds_length": 2277,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000891925.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112His",
"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": "H",
"aa_end": null,
"aa_length": 736,
"aa_ref": "R",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4173,
"cdna_start": 433,
"cds_end": null,
"cds_length": 2211,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001440355.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.263G>A",
"hgvs_p": "p.Arg88His",
"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": "H",
"aa_end": null,
"aa_length": 734,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4030,
"cdna_start": 290,
"cds_end": null,
"cds_length": 2205,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001440356.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"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": "H",
"aa_end": null,
"aa_length": 734,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4109,
"cdna_start": 309,
"cds_end": null,
"cds_length": 2205,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000891924.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"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": "H",
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"aa_length": 732,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 309,
"cds_end": null,
"cds_length": 2199,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000891926.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"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
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4008,
"cdna_start": 268,
"cds_end": null,
"cds_length": 2160,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001440357.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71His",
"intron_rank": null,
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"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": "H",
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"aa_length": 719,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4013,
"cdna_start": 283,
"cds_end": null,
"cds_length": 2160,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000684407.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507775.1",
"strand": false,
"transcript": "ENST00000684407.1",
"transcript_support_level": null
},
{
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"aa_length": 682,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3923,
"cdna_start": 362,
"cds_end": null,
"cds_length": 2049,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000913228.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112His",
"intron_rank": null,
"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_end": null,
"aa_length": 656,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3866,
"cdna_start": 301,
"cds_end": null,
"cds_length": 1971,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000913227.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.257G>A",
"hgvs_p": "p.Arg86His",
"intron_rank": null,
"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": "H",
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"aa_length": 405,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1704,
"cdna_start": 671,
"cds_end": null,
"cds_length": 1218,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001130867.2",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.263G>A",
"hgvs_p": "p.Arg88His",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001124339.1",
"strand": false,
"transcript": "NM_001130867.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 401,
"cds_end": null,
"cds_length": 877,
"cds_start": 263,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000586131.6",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.263G>A",
"hgvs_p": "p.Arg88His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464887.1",
"strand": false,
"transcript": "ENST00000586131.6",
"transcript_support_level": 3
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 690,
"cdna_start": 548,
"cds_end": null,
"cds_length": 327,
"cds_start": 185,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000586856.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "c.185G>A",
"hgvs_p": "p.Arg62His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466998.1",
"strand": false,
"transcript": "ENST00000586856.1",
"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": 682,
"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": "ENST00000586441.1",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "n.327G>A",
"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": 481,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000586737.5",
"gene_hgnc_id": 3434,
"gene_symbol": "ERCC2",
"hgvs_c": "n.330G>A",
"hgvs_p": null,
"intron_rank": null,
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