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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: 12-104821412-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=104821412&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 104821412,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000258538.8",
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1537-16075T>G",
"hgvs_p": null,
"transcript": "NM_001352171.3",
"protein_id": "NP_001339100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": -4,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5443,
"mane_select": "ENST00000258538.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1537-16075T>G",
"hgvs_p": null,
"transcript": "ENST00000258538.8",
"protein_id": "ENSP00000258538.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": -4,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5443,
"mane_select": "NM_001352171.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1537-16075T>G",
"hgvs_p": null,
"transcript": "NM_001352169.2",
"protein_id": "NP_001339098.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": -4,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1537-16075T>G",
"hgvs_p": null,
"transcript": "NM_001352170.3",
"protein_id": "NP_001339099.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": -4,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1537-16075T>G",
"hgvs_p": null,
"transcript": "NM_001352172.3",
"protein_id": "NP_001339101.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": -4,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1537-16075T>G",
"hgvs_p": null,
"transcript": "NM_001387125.1",
"protein_id": "NP_001374054.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": -4,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1537-16075T>G",
"hgvs_p": null,
"transcript": "NM_001387126.1",
"protein_id": "NP_001374055.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": -4,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1537-16075T>G",
"hgvs_p": null,
"transcript": "NM_001387127.1",
"protein_id": "NP_001374056.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": -4,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1537-16075T>G",
"hgvs_p": null,
"transcript": "NM_032148.6",
"protein_id": "NP_115524.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": -4,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.*43+12679T>G",
"hgvs_p": null,
"transcript": "NM_001387128.1",
"protein_id": "NP_001374057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": -4,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.*43+12679T>G",
"hgvs_p": null,
"transcript": "NM_001387129.1",
"protein_id": "NP_001374058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": -4,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.*43+12679T>G",
"hgvs_p": null,
"transcript": "NM_001387130.1",
"protein_id": "NP_001374059.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 527,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "n.89+12679T>G",
"hgvs_p": null,
"transcript": "ENST00000549713.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1537-16075T>G",
"hgvs_p": null,
"transcript": "XM_005269179.2",
"protein_id": "XP_005269236.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 573,
"cds_start": -4,
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"cdna_start": null,
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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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1537-16075T>G",
"hgvs_p": null,
"transcript": "XM_011538811.3",
"protein_id": "XP_011537113.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1537-16075T>G",
"hgvs_p": null,
"transcript": "XM_017020013.2",
"protein_id": "XP_016875502.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.1537-16075T>G",
"hgvs_p": null,
"transcript": "XM_047429648.1",
"protein_id": "XP_047285604.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 573,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.904-16075T>G",
"hgvs_p": null,
"transcript": "XM_017020016.3",
"protein_id": "XP_016875505.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 362,
"cds_start": -4,
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"cds_length": 1089,
"cdna_start": null,
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"cdna_length": 4714,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"hgvs_c": "c.859-16075T>G",
"hgvs_p": null,
"transcript": "XM_011538813.3",
"protein_id": "XP_011537115.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 347,
"cds_start": -4,
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"cds_length": 1044,
"cdna_start": null,
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"cdna_length": 4675,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC41A2",
"gene_hgnc_id": 31045,
"dbsnp": "rs10861279",
"frequency_reference_population": 0.08679342,
"hom_count_reference_population": 636,
"allele_count_reference_population": 13211,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0867934,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 13211,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 636,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.355,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000258538.8",
"gene_symbol": "SLC41A2",
"hgnc_id": 31045,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1537-16075T>G",
"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
}