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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: 7-100855586-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100855586&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100855586,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000354161.8",
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.317-120T>A",
"hgvs_p": null,
"transcript": "NM_020246.4",
"protein_id": "NP_064631.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": -4,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": "ENST00000354161.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.317-120T>A",
"hgvs_p": null,
"transcript": "ENST00000354161.8",
"protein_id": "ENSP00000275730.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": -4,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": "NM_020246.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.181+1208T>A",
"hgvs_p": null,
"transcript": "ENST00000415287.5",
"protein_id": "ENSP00000413796.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": -4,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1912,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "n.146T>A",
"hgvs_p": null,
"transcript": "ENST00000475687.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.317-120T>A",
"hgvs_p": null,
"transcript": "NM_001363493.2",
"protein_id": "NP_001350422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": -4,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.20-1282T>A",
"hgvs_p": null,
"transcript": "NM_001363494.1",
"protein_id": "NP_001350423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 771,
"cds_start": -4,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.317-120T>A",
"hgvs_p": null,
"transcript": "NM_001267812.2",
"protein_id": "NP_001254741.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.317-120T>A",
"hgvs_p": null,
"transcript": "ENST00000540482.5",
"protein_id": "ENSP00000443702.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.181+1208T>A",
"hgvs_p": null,
"transcript": "NM_001267814.2",
"protein_id": "NP_001254743.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 538,
"cds_start": -4,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.181+1208T>A",
"hgvs_p": null,
"transcript": "ENST00000416675.5",
"protein_id": "ENSP00000410692.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": -4,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.-344-1282T>A",
"hgvs_p": null,
"transcript": "ENST00000418037.5",
"protein_id": "ENSP00000406560.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 155,
"cds_start": -4,
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"cds_length": 469,
"cdna_start": null,
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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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.317-120T>A",
"hgvs_p": null,
"transcript": "ENST00000434158.1",
"protein_id": "ENSP00000408571.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "n.-36+2747T>A",
"hgvs_p": null,
"transcript": "ENST00000448342.5",
"protein_id": "ENSP00000401583.1",
"transcript_support_level": 5,
"aa_start": null,
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},
{
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"canonical": false,
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "n.229-4299T>A",
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"transcript": "ENST00000461016.1",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "n.449-120T>A",
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"transcript": "ENST00000462106.1",
"protein_id": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.317-120T>A",
"hgvs_p": null,
"transcript": "XM_047420626.1",
"protein_id": "XP_047276582.1",
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},
{
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],
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"intron_rank": 6,
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"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.317-120T>A",
"hgvs_p": null,
"transcript": "XM_047420627.1",
"protein_id": "XP_047276583.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.317-120T>A",
"hgvs_p": null,
"transcript": "XM_047420628.1",
"protein_id": "XP_047276584.1",
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},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.181+1208T>A",
"hgvs_p": null,
"transcript": "XM_047420629.1",
"protein_id": "XP_047276585.1",
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},
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],
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"intron_rank": 2,
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"gene_symbol": "SLC12A9",
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"hgvs_c": "c.181+1208T>A",
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"transcript": "XM_047420630.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "SLC12A9",
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"hgvs_c": "c.317-120T>A",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.14-1282T>A",
"hgvs_p": null,
"transcript": "XM_047420632.1",
"protein_id": "XP_047276588.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC12A9",
"gene_hgnc_id": 17435,
"hgvs_c": "c.181+1208T>A",
"hgvs_p": null,
"transcript": "XM_047420633.1",
"protein_id": "XP_047276589.1",
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"cds_start": -4,
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"cdna_start": null,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC12A9",
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"dbsnp": "rs314370",
"frequency_reference_population": 0.000011100027,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000833984,
"gnomad_genomes_af": 0.0000328334,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.572,
"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": -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": "ENST00000354161.8",
"gene_symbol": "SLC12A9",
"hgnc_id": 17435,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.317-120T>A",
"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
}