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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: 10-27504376-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27504376&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 27504376,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_021252.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Glu3Gln",
"transcript": "NM_021252.5",
"protein_id": "NP_067075.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 206,
"cds_start": 7,
"cds_end": null,
"cds_length": 621,
"cdna_start": 73,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": "ENST00000356940.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Glu3Gln",
"transcript": "ENST00000356940.11",
"protein_id": "ENSP00000349415.7",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 206,
"cds_start": 7,
"cds_end": null,
"cds_length": 621,
"cdna_start": 73,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": "NM_021252.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Glu3Gln",
"transcript": "ENST00000621805.6",
"protein_id": "ENSP00000478479.1",
"transcript_support_level": 1,
"aa_start": 3,
"aa_end": null,
"aa_length": 235,
"cds_start": 7,
"cds_end": null,
"cds_length": 708,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 7910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Glu3Gln",
"transcript": "NM_001256410.2",
"protein_id": "NP_001243339.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 235,
"cds_start": 7,
"cds_end": null,
"cds_length": 708,
"cdna_start": 73,
"cdna_end": null,
"cdna_length": 4962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Glu3Gln",
"transcript": "NM_001256411.2",
"protein_id": "NP_001243340.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 197,
"cds_start": 7,
"cds_end": null,
"cds_length": 594,
"cdna_start": 73,
"cdna_end": null,
"cdna_length": 4808,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Glu3Gln",
"transcript": "ENST00000684501.1",
"protein_id": "ENSP00000507589.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 197,
"cds_start": 7,
"cds_end": null,
"cds_length": 594,
"cdna_start": 97,
"cdna_end": null,
"cdna_length": 727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Glu3Gln",
"transcript": "ENST00000535776.6",
"protein_id": "ENSP00000439321.2",
"transcript_support_level": 2,
"aa_start": 3,
"aa_end": null,
"aa_length": 183,
"cds_start": 7,
"cds_end": null,
"cds_length": 552,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 2620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Glu3Gln",
"transcript": "ENST00000375802.7",
"protein_id": "ENSP00000364960.3",
"transcript_support_level": 5,
"aa_start": 3,
"aa_end": null,
"aa_length": 161,
"cds_start": 7,
"cds_end": null,
"cds_length": 486,
"cdna_start": 49,
"cdna_end": null,
"cdna_length": 617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Glu3Gln",
"transcript": "NM_001256412.2",
"protein_id": "NP_001243341.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 142,
"cds_start": 7,
"cds_end": null,
"cds_length": 429,
"cdna_start": 73,
"cdna_end": null,
"cdna_length": 4683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Glu3Gln",
"transcript": "ENST00000682389.1",
"protein_id": "ENSP00000507154.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 142,
"cds_start": 7,
"cds_end": null,
"cds_length": 429,
"cdna_start": 73,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "c.7G>C",
"hgvs_p": "p.Glu3Gln",
"transcript": "ENST00000683755.1",
"protein_id": "ENSP00000506993.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 132,
"cds_start": 7,
"cds_end": null,
"cds_length": 399,
"cdna_start": 65,
"cdna_end": null,
"cdna_length": 1800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.7G>C",
"hgvs_p": null,
"transcript": "ENST00000484281.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.78G>C",
"hgvs_p": null,
"transcript": "ENST00000490236.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.7G>C",
"hgvs_p": null,
"transcript": "ENST00000611151.5",
"protein_id": "ENSP00000483927.2",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.7G>C",
"hgvs_p": null,
"transcript": "ENST00000682082.1",
"protein_id": "ENSP00000507542.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.7G>C",
"hgvs_p": null,
"transcript": "ENST00000682181.1",
"protein_id": "ENSP00000507392.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.73G>C",
"hgvs_p": null,
"transcript": "ENST00000682368.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.83G>C",
"hgvs_p": null,
"transcript": "ENST00000682518.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2735,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.7G>C",
"hgvs_p": null,
"transcript": "ENST00000682852.1",
"protein_id": "ENSP00000508341.1",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "RAB18",
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"hgvs_c": "n.91G>C",
"hgvs_p": null,
"transcript": "ENST00000683042.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.7G>C",
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"transcript": "ENST00000683419.1",
"protein_id": "ENSP00000508094.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.7G>C",
"hgvs_p": null,
"transcript": "ENST00000683816.1",
"protein_id": "ENSP00000507834.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB18",
"gene_hgnc_id": 14244,
"hgvs_c": "n.7G>C",
"hgvs_p": null,
"transcript": "ENST00000684393.1",
"protein_id": "ENSP00000507136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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}
],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.2,
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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{
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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{
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],
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],
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}
],
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}