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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: 12-1486417-C-CTTTAT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=1486417&ref=C&alt=CTTTAT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ERC1",
"hgnc_id": 17072,
"hgvs_c": "c.3214-3657_3214-3653dupATTTT",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_178040.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CTTTAT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1116,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9308,
"cdna_start": null,
"cds_end": null,
"cds_length": 3351,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_178040.4",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "c.3214-3657_3214-3653dupATTTT",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360905.9",
"protein_coding": true,
"protein_id": "NP_829884.1",
"strand": true,
"transcript": "NM_178040.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1116,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9308,
"cdna_start": null,
"cds_end": null,
"cds_length": 3351,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000360905.9",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "c.3214-3676_3214-3675insTTTAT",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_178040.4",
"protein_coding": true,
"protein_id": "ENSP00000354158.3",
"strand": true,
"transcript": "ENST00000360905.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1116,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6975,
"cdna_start": null,
"cds_end": null,
"cds_length": 3351,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000589028.6",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "c.3214-3676_3214-3675insTTTAT",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468263.1",
"strand": true,
"transcript": "ENST00000589028.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1088,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9241,
"cdna_start": null,
"cds_end": null,
"cds_length": 3267,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000543086.7",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "c.3130-3676_3130-3675insTTTAT",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438546.1",
"strand": true,
"transcript": "ENST00000543086.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1086,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5796,
"cdna_start": null,
"cds_end": null,
"cds_length": 3261,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355446.9",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "c.*9-3676_*9-3675insTTTAT",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347621.5",
"strand": true,
"transcript": "ENST00000355446.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4955,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000347735.10",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "n.*228-3676_*228-3675insTTTAT",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000340054.6",
"strand": true,
"transcript": "ENST00000347735.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7040,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000440394.7",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "n.*228-3676_*228-3675insTTTAT",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000410064.2",
"strand": true,
"transcript": "ENST00000440394.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2881,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000545948.5",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "n.*228-3676_*228-3675insTTTAT",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000442976.1",
"strand": true,
"transcript": "ENST00000545948.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1120,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4390,
"cdna_start": null,
"cds_end": null,
"cds_length": 3363,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000546231.6",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "c.3226-3676_3226-3675insTTTAT",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442739.2",
"strand": true,
"transcript": "ENST00000546231.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1120,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9298,
"cdna_start": null,
"cds_end": null,
"cds_length": 3363,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950324.1",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "c.3226-3676_3226-3675insTTTAT",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620383.1",
"strand": true,
"transcript": "ENST00000950324.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4876,
"cdna_start": null,
"cds_end": null,
"cds_length": 3363,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000950325.1",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "c.3226-3676_3226-3675insTTTAT",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620384.1",
"strand": true,
"transcript": "ENST00000950325.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4462,
"cdna_start": null,
"cds_end": null,
"cds_length": 3363,
"cds_start": null,
"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000950327.1",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "c.3226-3676_3226-3675insTTTAT",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000620386.1",
"strand": true,
"transcript": "ENST00000950327.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 19,
"exon_rank": null,
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"feature": "ENST00000397203.7",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "c.3214-3676_3214-3675insTTTAT",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380386.4",
"strand": true,
"transcript": "ENST00000397203.7",
"transcript_support_level": 5
},
{
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"aa_end": null,
"aa_length": 1116,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7078,
"cdna_start": null,
"cds_end": null,
"cds_length": 3351,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895621.1",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "c.3214-3676_3214-3675insTTTAT",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565680.1",
"strand": true,
"transcript": "ENST00000895621.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 4841,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895624.1",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "c.3214-3676_3214-3675insTTTAT",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565683.1",
"strand": true,
"transcript": "ENST00000895624.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4791,
"cdna_start": null,
"cds_end": null,
"cds_length": 3351,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895626.1",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "c.3214-3676_3214-3675insTTTAT",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565685.1",
"strand": true,
"transcript": "ENST00000895626.1",
"transcript_support_level": null
},
{
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"aa_length": 1116,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4403,
"cdna_start": null,
"cds_end": null,
"cds_length": 3351,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895631.1",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "c.3214-3676_3214-3675insTTTAT",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565690.1",
"strand": true,
"transcript": "ENST00000895631.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 3267,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_178039.4",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "c.3130-3657_3130-3653dupATTTT",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_829883.1",
"strand": true,
"transcript": "NM_178039.4",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 6860,
"cdna_start": null,
"cds_end": null,
"cds_length": 3267,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895622.1",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "c.3130-3676_3130-3675insTTTAT",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565681.1",
"strand": true,
"transcript": "ENST00000895622.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5436,
"cdna_start": null,
"cds_end": null,
"cds_length": 3267,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895623.1",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "c.3130-3676_3130-3675insTTTAT",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565682.1",
"strand": true,
"transcript": "ENST00000895623.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1088,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4544,
"cdna_start": null,
"cds_end": null,
"cds_length": 3267,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895625.1",
"gene_hgnc_id": 17072,
"gene_symbol": "ERC1",
"hgvs_c": "c.3130-3676_3130-3675insTTTAT",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
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