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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: 9-36652381-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=36652381&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 36652381,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_014791.4",
"consequences": [
{
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MELK",
"gene_hgnc_id": 16870,
"hgvs_c": "c.1053+504A>T",
"hgvs_p": null,
"transcript": "NM_014791.4",
"protein_id": "NP_055606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": null,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000298048.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014791.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MELK",
"gene_hgnc_id": 16870,
"hgvs_c": "c.1053+504A>T",
"hgvs_p": null,
"transcript": "ENST00000298048.7",
"protein_id": "ENSP00000298048.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": null,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014791.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298048.7"
},
{
"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": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MELK",
"gene_hgnc_id": 16870,
"hgvs_c": "c.957+504A>T",
"hgvs_p": null,
"transcript": "ENST00000543751.5",
"protein_id": "ENSP00000441596.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 619,
"cds_start": null,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543751.5"
},
{
"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": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MELK",
"gene_hgnc_id": 16870,
"hgvs_c": "c.840+504A>T",
"hgvs_p": null,
"transcript": "ENST00000536329.5",
"protein_id": "ENSP00000443550.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 580,
"cds_start": null,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536329.5"
},
{
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MELK",
"gene_hgnc_id": 16870,
"hgvs_c": "c.1053+504A>T",
"hgvs_p": null,
"transcript": "ENST00000855345.1",
"protein_id": "ENSP00000525404.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": null,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855345.1"
},
{
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MELK",
"gene_hgnc_id": 16870,
"hgvs_c": "c.1053+504A>T",
"hgvs_p": null,
"transcript": "ENST00000855346.1",
"protein_id": "ENSP00000525405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": null,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855346.1"
},
{
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MELK",
"gene_hgnc_id": 16870,
"hgvs_c": "c.1053+504A>T",
"hgvs_p": null,
"transcript": "ENST00000855351.1",
"protein_id": "ENSP00000525410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": null,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855351.1"
},
{
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MELK",
"gene_hgnc_id": 16870,
"hgvs_c": "c.1044+504A>T",
"hgvs_p": null,
"transcript": "ENST00000920577.1",
"protein_id": "ENSP00000590636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": null,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920577.1"
},
{
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MELK",
"gene_hgnc_id": 16870,
"hgvs_c": "c.1011+504A>T",
"hgvs_p": null,
"transcript": "ENST00000920570.1",
"protein_id": "ENSP00000590629.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": null,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920570.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MELK",
"gene_hgnc_id": 16870,
"hgvs_c": "c.1011+504A>T",
"hgvs_p": null,
"transcript": "ENST00000944512.1",
"protein_id": "ENSP00000614571.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": null,
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"cds_length": 1914,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944512.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MELK",
"gene_hgnc_id": 16870,
"hgvs_c": "c.966+504A>T",
"hgvs_p": null,
"transcript": "ENST00000855348.1",
"protein_id": "ENSP00000525407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000855348.1"
},
{
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"canonical": false,
"protein_coding": true,
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
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"intron_rank_end": null,
"gene_symbol": "MELK",
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"hgvs_c": "c.966+504A>T",
"hgvs_p": null,
"transcript": "ENST00000855353.1",
"protein_id": "ENSP00000525412.1",
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"cdna_start": null,
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"feature": "ENST00000855353.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MELK",
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"hgvs_c": "c.966+504A>T",
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"transcript": "ENST00000920578.1",
"protein_id": "ENSP00000590637.1",
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"cds_start": null,
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"cdna_start": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "MELK",
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"transcript": "NM_001256689.2",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MELK",
"gene_hgnc_id": 16870,
"hgvs_c": "c.936+504A>T",
"hgvs_p": null,
"transcript": "ENST00000920556.1",
"protein_id": "ENSP00000590615.1",
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"cds_start": null,
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},
{
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],
"exon_rank": null,
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"intron_rank": 12,
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"gene_symbol": "MELK",
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"hgvs_c": "c.936+504A>T",
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"transcript": "ENST00000944513.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 12,
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"gene_symbol": "MELK",
"gene_hgnc_id": 16870,
"hgvs_c": "c.1053+504A>T",
"hgvs_p": null,
"transcript": "NM_001256685.2",
"protein_id": "NP_001243614.1",
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"feature": "NM_001256685.2"
},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MELK",
"gene_hgnc_id": 16870,
"hgvs_c": "c.1053+504A>T",
"hgvs_p": null,
"transcript": "ENST00000541717.4",
"protein_id": "ENSP00000437804.1",
"transcript_support_level": 2,
"aa_start": null,
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},
{
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],
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"gene_symbol": "MELK",
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},
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],
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"intron_rank": 13,
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"gene_symbol": "MELK",
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},
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],
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"gene_symbol": "MELK",
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"hgvs_c": "c.1053+504A>T",
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"transcript": "ENST00000944510.1",
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"biotype": "protein_coding",
"feature": "ENST00000944510.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MELK",
"gene_hgnc_id": 16870,
"hgvs_c": "c.909+504A>T",
"hgvs_p": null,
"transcript": "NM_001256687.2",
"protein_id": "NP_001243616.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 603,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256687.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_014791.4",
"gene_symbol": "MELK",
"hgnc_id": 16870,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1053+504A>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}