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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: X-103786656-GCCAACATCAA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=103786656&ref=GCCAACATCAA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 103786656,
"ref": "GCCAACATCAA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_000533.5",
"consequences": [
{
"aa_ref": "GQHQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.384_393delCCAACATCAA",
"hgvs_p": "p.Gln129fs",
"transcript": "NM_000533.5",
"protein_id": "NP_000524.3",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 277,
"cds_start": 384,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000621218.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000533.5"
},
{
"aa_ref": "GQHQ",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.384_393delCCAACATCAA",
"hgvs_p": "p.Gln129fs",
"transcript": "ENST00000621218.5",
"protein_id": "ENSP00000484450.1",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 277,
"cds_start": 384,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000533.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621218.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.348+36_348+45delCCAACATCAA",
"hgvs_p": null,
"transcript": "ENST00000619236.1",
"protein_id": "ENSP00000477619.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 242,
"cds_start": null,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619236.1"
},
{
"aa_ref": "GQHQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.426_435delCCAACATCAA",
"hgvs_p": "p.Gln143fs",
"transcript": "ENST00000867712.1",
"protein_id": "ENSP00000537771.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 291,
"cds_start": 426,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867712.1"
},
{
"aa_ref": "GQHQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.384_393delCCAACATCAA",
"hgvs_p": "p.Gln129fs",
"transcript": "NM_001128834.3",
"protein_id": "NP_001122306.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 277,
"cds_start": 384,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128834.3"
},
{
"aa_ref": "GQHQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.384_393delCCAACATCAA",
"hgvs_p": "p.Gln129fs",
"transcript": "ENST00000612423.4",
"protein_id": "ENSP00000481006.1",
"transcript_support_level": 2,
"aa_start": 128,
"aa_end": null,
"aa_length": 277,
"cds_start": 384,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612423.4"
},
{
"aa_ref": "GQHQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.384_393delCCAACATCAA",
"hgvs_p": "p.Gln129fs",
"transcript": "ENST00000867699.1",
"protein_id": "ENSP00000537758.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 277,
"cds_start": 384,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867699.1"
},
{
"aa_ref": "GQHQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.384_393delCCAACATCAA",
"hgvs_p": "p.Gln129fs",
"transcript": "ENST00000867700.1",
"protein_id": "ENSP00000537759.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 277,
"cds_start": 384,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867700.1"
},
{
"aa_ref": "GQHQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.384_393delCCAACATCAA",
"hgvs_p": "p.Gln129fs",
"transcript": "ENST00000867701.1",
"protein_id": "ENSP00000537760.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 277,
"cds_start": 384,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867701.1"
},
{
"aa_ref": "GQHQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.384_393delCCAACATCAA",
"hgvs_p": "p.Gln129fs",
"transcript": "ENST00000867702.1",
"protein_id": "ENSP00000537761.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 277,
"cds_start": 384,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867702.1"
},
{
"aa_ref": "GQHQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.384_393delCCAACATCAA",
"hgvs_p": "p.Gln129fs",
"transcript": "ENST00000867704.1",
"protein_id": "ENSP00000537763.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 277,
"cds_start": 384,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867704.1"
},
{
"aa_ref": "GQHQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.384_393delCCAACATCAA",
"hgvs_p": "p.Gln129fs",
"transcript": "ENST00000867706.1",
"protein_id": "ENSP00000537765.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 277,
"cds_start": 384,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867706.1"
},
{
"aa_ref": "GQHQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.375_384delCCAACATCAA",
"hgvs_p": "p.Gln126fs",
"transcript": "ENST00000867711.1",
"protein_id": "ENSP00000537770.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 274,
"cds_start": 375,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867711.1"
},
{
"aa_ref": "GQHQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.384_393delCCAACATCAA",
"hgvs_p": "p.Gln129fs",
"transcript": "ENST00000867710.1",
"protein_id": "ENSP00000537769.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 263,
"cds_start": 384,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867710.1"
},
{
"aa_ref": "GQHQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.384_393delCCAACATCAA",
"hgvs_p": "p.Gln129fs",
"transcript": "ENST00000867709.1",
"protein_id": "ENSP00000537768.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 255,
"cds_start": 384,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867709.1"
},
{
"aa_ref": "GQHQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.219_228delCCAACATCAA",
"hgvs_p": "p.Gln74fs",
"transcript": "NM_001305004.1",
"protein_id": "NP_001291933.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 222,
"cds_start": 219,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305004.1"
},
{
"aa_ref": "GQHQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.219_228delCCAACATCAA",
"hgvs_p": "p.Gln74fs",
"transcript": "ENST00000867707.1",
"protein_id": "ENSP00000537766.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 222,
"cds_start": 219,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867707.1"
},
{
"aa_ref": "GQHQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.384_393delCCAACATCAA",
"hgvs_p": "p.Gln129fs",
"transcript": "ENST00000494475.5",
"protein_id": "ENSP00000480409.1",
"transcript_support_level": 3,
"aa_start": 128,
"aa_end": null,
"aa_length": 135,
"cds_start": 384,
"cds_end": null,
"cds_length": 410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494475.5"
},
{
"aa_ref": "GQHQ",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.384_393delCCAACATCAA",
"hgvs_p": "p.Gln129fs",
"transcript": "ENST00000455268.5",
"protein_id": "ENSP00000409802.1",
"transcript_support_level": 4,
"aa_start": 128,
"aa_end": null,
"aa_length": 135,
"cds_start": 384,
"cds_end": null,
"cds_length": 409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455268.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.348+36_348+45delCCAACATCAA",
"hgvs_p": null,
"transcript": "NM_199478.3",
"protein_id": "NP_955772.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 242,
"cds_start": null,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199478.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.348+36_348+45delCCAACATCAA",
"hgvs_p": null,
"transcript": "ENST00000867697.1",
"protein_id": "ENSP00000537756.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 242,
"cds_start": null,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867697.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PLP1",
"gene_hgnc_id": 9086,
"hgvs_c": "c.348+36_348+45delCCAACATCAA",
"hgvs_p": null,
"transcript": "ENST00000867698.1",
"protein_id": "ENSP00000537757.1",
"transcript_support_level": null,
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"PP5_Moderate"
],
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{
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"PP5_Moderate"
],
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],
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},
{
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],
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],
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}
],
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Pelizaeus-Merzbacher disease",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}