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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: 7-91941150-A-AG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=91941150&ref=A&alt=AG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "AKAP9",
"hgnc_id": 379,
"hgvs_c": "c.48+5dupG",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_005751.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"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": 3907,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12476,
"cdna_start": null,
"cds_end": null,
"cds_length": 11724,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005751.5",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.48+5dupG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356239.8",
"protein_coding": true,
"protein_id": "NP_005742.4",
"strand": true,
"transcript": "NM_005751.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3907,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12476,
"cdna_start": null,
"cds_end": null,
"cds_length": 11724,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356239.8",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.48+3_48+4insG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005751.5",
"protein_coding": true,
"protein_id": "ENSP00000348573.3",
"strand": true,
"transcript": "ENST00000356239.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1356,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394564.5",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "n.222+3_222+4insG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000394564.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3931,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12219,
"cdna_start": null,
"cds_end": null,
"cds_length": 11796,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 51,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000359028.7",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.48+3_48+4insG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351922.4",
"strand": true,
"transcript": "ENST00000359028.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3923,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13915,
"cdna_start": null,
"cds_end": null,
"cds_length": 11772,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000681412.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.48+3_48+4insG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506486.1",
"strand": true,
"transcript": "ENST00000681412.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3920,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12537,
"cdna_start": null,
"cds_end": null,
"cds_length": 11763,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 51,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680534.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.48+3_48+4insG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506674.1",
"strand": true,
"transcript": "ENST00000680534.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3915,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12328,
"cdna_start": null,
"cds_end": null,
"cds_length": 11748,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000681722.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.48+3_48+4insG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506566.1",
"strand": true,
"transcript": "ENST00000681722.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3899,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12452,
"cdna_start": null,
"cds_end": null,
"cds_length": 11700,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_147185.3",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.48+5dupG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_671714.1",
"strand": true,
"transcript": "NM_147185.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3899,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12423,
"cdna_start": null,
"cds_end": null,
"cds_length": 11700,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680766.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.48+3_48+4insG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505204.1",
"strand": true,
"transcript": "ENST00000680766.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3889,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12422,
"cdna_start": null,
"cds_end": null,
"cds_length": 11670,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000679521.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.48+3_48+4insG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505456.1",
"strand": true,
"transcript": "ENST00000679521.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3876,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12370,
"cdna_start": null,
"cds_end": null,
"cds_length": 11631,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680181.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.48+3_48+4insG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505548.1",
"strand": true,
"transcript": "ENST00000680181.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3872,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12369,
"cdna_start": null,
"cds_end": null,
"cds_length": 11619,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925975.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.48+3_48+4insG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596034.1",
"strand": true,
"transcript": "ENST00000925975.1",
"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": 12357,
"cdna_start": null,
"cds_end": null,
"cds_length": 11583,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680513.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.48+3_48+4insG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505284.1",
"strand": true,
"transcript": "ENST00000680513.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3852,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12052,
"cdna_start": null,
"cds_end": null,
"cds_length": 11559,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925977.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.48+3_48+4insG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596036.1",
"strand": true,
"transcript": "ENST00000925977.1",
"transcript_support_level": null
},
{
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"aa_length": 3848,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12321,
"cdna_start": null,
"cds_end": null,
"cds_length": 11547,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680072.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.48+3_48+4insG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506581.1",
"strand": true,
"transcript": "ENST00000680072.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3836,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12249,
"cdna_start": null,
"cds_end": null,
"cds_length": 11511,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000925976.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.48+3_48+4insG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596035.1",
"strand": true,
"transcript": "ENST00000925976.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 3827,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12118,
"cdna_start": null,
"cds_end": null,
"cds_length": 11484,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680952.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.48+3_48+4insG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506407.1",
"strand": true,
"transcript": "ENST00000680952.1",
"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": 12207,
"cdna_start": null,
"cds_end": null,
"cds_length": 11466,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000679821.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "c.48+3_48+4insG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506040.1",
"strand": true,
"transcript": "ENST00000679821.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6020,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000493453.1",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "n.232+3_232+4insG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000493453.1",
"transcript_support_level": 2
},
{
"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": 8366,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674381.2",
"gene_hgnc_id": 379,
"gene_symbol": "AKAP9",
"hgvs_c": "n.48+3_48+4insG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000501536.2",
"strand": true,
"transcript": "ENST00000674381.2",
"transcript_support_level": null
},
{
"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": 12677,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 51,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000679448.1",
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