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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: 9-122880408-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=122880408&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 122880408,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001100588.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.960+186C>G",
"hgvs_p": null,
"transcript": "NM_001100588.3",
"protein_id": "NP_001094058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": null,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357244.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100588.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.960+186C>G",
"hgvs_p": null,
"transcript": "ENST00000357244.7",
"protein_id": "ENSP00000349783.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": null,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001100588.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357244.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.960+186C>G",
"hgvs_p": null,
"transcript": "ENST00000335387.9",
"protein_id": "ENSP00000335150.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": null,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335387.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.960+186C>G",
"hgvs_p": null,
"transcript": "ENST00000373670.5",
"protein_id": "ENSP00000362774.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": null,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373670.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.960+186C>G",
"hgvs_p": null,
"transcript": "ENST00000954280.1",
"protein_id": "ENSP00000624339.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": null,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954280.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.960+186C>G",
"hgvs_p": null,
"transcript": "ENST00000954288.1",
"protein_id": "ENSP00000624347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": null,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954288.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.960+186C>G",
"hgvs_p": null,
"transcript": "ENST00000954289.1",
"protein_id": "ENSP00000624348.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": null,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954289.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.960+186C>G",
"hgvs_p": null,
"transcript": "ENST00000915905.1",
"protein_id": "ENSP00000585964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1189,
"cds_start": null,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915905.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.960+186C>G",
"hgvs_p": null,
"transcript": "ENST00000954276.1",
"protein_id": "ENSP00000624335.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1189,
"cds_start": null,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954276.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.960+186C>G",
"hgvs_p": null,
"transcript": "ENST00000954278.1",
"protein_id": "ENSP00000624337.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1189,
"cds_start": null,
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"cds_length": 3570,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954278.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.954+186C>G",
"hgvs_p": null,
"transcript": "ENST00000954284.1",
"protein_id": "ENSP00000624343.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000954284.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 6,
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"gene_symbol": "RC3H2",
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"hgvs_c": "c.960+186C>G",
"hgvs_p": null,
"transcript": "ENST00000954287.1",
"protein_id": "ENSP00000624346.1",
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"aa_start": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000954287.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 6,
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"gene_symbol": "RC3H2",
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"hgvs_c": "c.960+186C>G",
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"transcript": "NM_001354482.2",
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"cdna_start": null,
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"feature": "NM_001354482.2"
},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "RC3H2",
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"hgvs_c": "c.960+186C>G",
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},
{
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"strand": false,
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],
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"exon_count": 20,
"intron_rank": 6,
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"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.960+186C>G",
"hgvs_p": null,
"transcript": "NM_001354479.2",
"protein_id": "NP_001341408.1",
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"biotype": "protein_coding",
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},
{
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],
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"gene_symbol": "RC3H2",
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"transcript": "ENST00000915904.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 6,
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"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.960+186C>G",
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"transcript": "NM_001354478.2",
"protein_id": "NP_001341407.1",
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"biotype": "protein_coding",
"feature": "NM_001354478.2"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.726+186C>G",
"hgvs_p": null,
"transcript": "ENST00000954282.1",
"protein_id": "ENSP00000624341.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "RC3H2",
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"hgvs_c": "c.726+186C>G",
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},
{
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],
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "RC3H2",
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"hgvs_c": "c.960+186C>G",
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"protein_id": "ENSP00000585962.1",
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"biotype": "protein_coding",
"feature": "ENST00000915903.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RC3H2",
"gene_hgnc_id": 21461,
"hgvs_c": "c.960+186C>G",
"hgvs_p": null,
"transcript": "NM_018835.5",
"protein_id": "NP_061323.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018835.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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{
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{
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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{
"score": -2,
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"BP4_Strong"
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"verdict": "Likely_benign",
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}