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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: 7-92040664-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=92040664&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 92040664,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000356239.8",
"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": 50,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.4693-10A>T",
"hgvs_p": null,
"transcript": "NM_005751.5",
"protein_id": "NP_005742.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3907,
"cds_start": -4,
"cds_end": null,
"cds_length": 11724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12476,
"mane_select": "ENST00000356239.8",
"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": 50,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.4693-10A>T",
"hgvs_p": null,
"transcript": "ENST00000356239.8",
"protein_id": "ENSP00000348573.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3907,
"cds_start": -4,
"cds_end": null,
"cds_length": 11724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12476,
"mane_select": "NM_005751.5",
"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": 51,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.4693-10A>T",
"hgvs_p": null,
"transcript": "ENST00000359028.7",
"protein_id": "ENSP00000351922.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3931,
"cds_start": -4,
"cds_end": null,
"cds_length": 11796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12219,
"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": 49,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.4693-10A>T",
"hgvs_p": null,
"transcript": "ENST00000681412.1",
"protein_id": "ENSP00000506486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3923,
"cds_start": -4,
"cds_end": null,
"cds_length": 11772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13915,
"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": 51,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.4693-10A>T",
"hgvs_p": null,
"transcript": "ENST00000680534.1",
"protein_id": "ENSP00000506674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3920,
"cds_start": -4,
"cds_end": null,
"cds_length": 11763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12537,
"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": 49,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.4693-10A>T",
"hgvs_p": null,
"transcript": "ENST00000681722.1",
"protein_id": "ENSP00000506566.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3915,
"cds_start": -4,
"cds_end": null,
"cds_length": 11748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12328,
"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": 50,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.4693-10A>T",
"hgvs_p": null,
"transcript": "NM_147185.3",
"protein_id": "NP_671714.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3899,
"cds_start": -4,
"cds_end": null,
"cds_length": 11700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12452,
"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": 50,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.4693-10A>T",
"hgvs_p": null,
"transcript": "ENST00000680766.1",
"protein_id": "ENSP00000505204.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3899,
"cds_start": -4,
"cds_end": null,
"cds_length": 11700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12423,
"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": 49,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.4639-10A>T",
"hgvs_p": null,
"transcript": "ENST00000679521.1",
"protein_id": "ENSP00000505456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3889,
"cds_start": -4,
"cds_end": null,
"cds_length": 11670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12422,
"mane_select": null,
"mane_plus": null,
"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": 49,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.4600-10A>T",
"hgvs_p": null,
"transcript": "ENST00000680181.1",
"protein_id": "ENSP00000505548.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 3876,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 49,
"intron_rank": 17,
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"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.4693-10A>T",
"hgvs_p": null,
"transcript": "ENST00000680513.1",
"protein_id": "ENSP00000505284.1",
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},
{
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],
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},
{
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"strand": true,
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],
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"gene_symbol": "AKAP9",
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},
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],
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"gene_symbol": "AKAP9",
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"hgvs_c": "c.4435-10A>T",
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"transcript": "ENST00000679821.1",
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},
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],
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"gene_symbol": "AKAP9",
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},
{
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"strand": true,
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],
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"intron_rank": 18,
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"gene_symbol": "AKAP9",
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"hgvs_c": "n.*4422-10A>T",
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},
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],
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"gene_symbol": "AKAP9",
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"hgvs_c": "n.4693-10A>T",
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"transcript": "ENST00000679457.1",
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],
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"gene_symbol": "AKAP9",
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"hgvs_c": "n.4915-10A>T",
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],
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},
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],
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"exon_count": 26,
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"gene_symbol": "AKAP9",
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.-40A>T",
"hgvs_p": null,
"transcript": "ENST00000484815.1",
"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": 671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"dbsnp": "rs772968330",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.000929954,
"gnomad_genomes_af": 0.000925093,
"gnomad_exomes_ac": 906,
"gnomad_genomes_ac": 72,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.004000000189989805,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.556,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000264649075773414,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000356239.8",
"gene_symbol": "AKAP9",
"hgnc_id": 379,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4693-10A>T",
"hgvs_p": null
}
],
"clinvar_disease": "Long QT syndrome,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Long QT syndrome|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}