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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: 2-86232666-GGCTGGCCGTGTTTGCC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=86232666&ref=GGCTGGCCGTGTTTGCC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 86232666,
"ref": "GGCTGGCCGTGTTTGCC",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000538924.7",
"consequences": [
{
"aa_ref": "GKHGQP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.538_553delGGCAAACACGGCCAGC",
"hgvs_p": "p.Gly180fs",
"transcript": "NM_001371279.1",
"protein_id": "NP_001358208.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 284,
"cds_start": 538,
"cds_end": null,
"cds_length": 855,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": "ENST00000538924.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GKHGQP",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.538_553delGGCAAACACGGCCAGC",
"hgvs_p": "p.Gly180fs",
"transcript": "ENST00000538924.7",
"protein_id": "ENSP00000438346.3",
"transcript_support_level": 5,
"aa_start": 180,
"aa_end": null,
"aa_length": 284,
"cds_start": 538,
"cds_end": null,
"cds_length": 855,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 4017,
"mane_select": "NM_001371279.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GKHGQP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.538_553delGGCAAACACGGCCAGC",
"hgvs_p": "p.Gly180fs",
"transcript": "ENST00000165698.9",
"protein_id": "ENSP00000165698.5",
"transcript_support_level": 1,
"aa_start": 180,
"aa_end": null,
"aa_length": 201,
"cds_start": 538,
"cds_end": null,
"cds_length": 606,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 3857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GKHGQP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.646_661delGGCAAACACGGCCAGC",
"hgvs_p": "p.Gly216fs",
"transcript": "ENST00000642243.1",
"protein_id": "ENSP00000494960.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 320,
"cds_start": 646,
"cds_end": null,
"cds_length": 963,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GKHGQP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.547_562delGGCAAACACGGCCAGC",
"hgvs_p": "p.Gly183fs",
"transcript": "ENST00000644644.1",
"protein_id": "ENSP00000494305.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 287,
"cds_start": 547,
"cds_end": null,
"cds_length": 864,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GKHGQP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.538_553delGGCAAACACGGCCAGC",
"hgvs_p": "p.Gly180fs",
"transcript": "NM_001410855.1",
"protein_id": "NP_001397784.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 272,
"cds_start": 538,
"cds_end": null,
"cds_length": 819,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 3981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GKHGQP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.538_553delGGCAAACACGGCCAGC",
"hgvs_p": "p.Gly180fs",
"transcript": "ENST00000643817.2",
"protein_id": "ENSP00000495610.2",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 272,
"cds_start": 538,
"cds_end": null,
"cds_length": 819,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GKHGQP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.457_472delGGCAAACACGGCCAGC",
"hgvs_p": "p.Gly153fs",
"transcript": "ENST00000686220.1",
"protein_id": "ENSP00000509904.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 223,
"cds_start": 457,
"cds_end": null,
"cds_length": 672,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GKHGQP",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.538_553delGGCAAACACGGCCAGC",
"hgvs_p": "p.Gly180fs",
"transcript": "NM_001410856.1",
"protein_id": "NP_001397785.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 213,
"cds_start": 538,
"cds_end": null,
"cds_length": 642,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 3865,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "GKHGQP",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.538_553delGGCAAACACGGCCAGC",
"hgvs_p": "p.Gly180fs",
"transcript": "ENST00000691703.1",
"protein_id": "ENSP00000508496.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 213,
"cds_start": 538,
"cds_end": null,
"cds_length": 642,
"cdna_start": 697,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.559_574delGGCAAACACGGCCAGC",
"hgvs_p": "p.Gly187fs",
"transcript": "NM_001164730.2",
"protein_id": "NP_001158202.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 208,
"cds_start": 559,
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},
{
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"consequences": [
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],
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "REEP1",
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"hgvs_c": "c.559_574delGGCAAACACGGCCAGC",
"hgvs_p": "p.Gly187fs",
"transcript": "ENST00000453231.6",
"protein_id": "ENSP00000392197.2",
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"aa_start": 187,
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"cds_start": 559,
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},
{
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"consequences": [
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],
"exon_rank": 6,
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"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "REEP1",
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"hgvs_c": "c.538_553delGGCAAACACGGCCAGC",
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"transcript": "NM_022912.3",
"protein_id": "NP_075063.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "REEP1",
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"transcript": "ENST00000535845.6",
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},
{
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],
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},
{
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],
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"gene_symbol": "REEP1",
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"hgvs_c": "c.303_318delGGCAAACACGGCCAGC",
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"transcript": "NM_001164732.2",
"protein_id": "NP_001158204.1",
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},
{
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],
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"gene_symbol": "REEP1",
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"hgvs_c": "c.303_318delGGCAAACACGGCCAGC",
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"transcript": "ENST00000541910.6",
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],
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],
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},
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],
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"gene_symbol": "REEP1",
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"hgvs_c": "c.559_574delGGCAAACACGGCCAGC",
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"transcript": "XM_017004725.2",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "REEP1",
"gene_hgnc_id": 25786,
"hgvs_c": "c.520_535delGGCAAACACGGCCAGC",
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"transcript": "XM_011533044.2",
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],
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"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"phenotype_combined": "Hereditary spastic paraplegia 31|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}