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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: 7-92077845-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=92077845&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 92077845,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_005751.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6915G>A",
"hgvs_p": "p.Gln2305Gln",
"transcript": "NM_005751.5",
"protein_id": "NP_005742.4",
"transcript_support_level": null,
"aa_start": 2305,
"aa_end": null,
"aa_length": 3907,
"cds_start": 6915,
"cds_end": null,
"cds_length": 11724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356239.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005751.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6915G>A",
"hgvs_p": "p.Gln2305Gln",
"transcript": "ENST00000356239.8",
"protein_id": "ENSP00000348573.3",
"transcript_support_level": 1,
"aa_start": 2305,
"aa_end": null,
"aa_length": 3907,
"cds_start": 6915,
"cds_end": null,
"cds_length": 11724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005751.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356239.8"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.1560G>A",
"hgvs_p": "p.Gln520Gln",
"transcript": "ENST00000491695.2",
"protein_id": "ENSP00000494626.2",
"transcript_support_level": 1,
"aa_start": 520,
"aa_end": null,
"aa_length": 2122,
"cds_start": 1560,
"cds_end": null,
"cds_length": 6369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491695.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.408G>A",
"hgvs_p": "p.Gln136Gln",
"transcript": "ENST00000394534.7",
"protein_id": "ENSP00000378042.3",
"transcript_support_level": 1,
"aa_start": 136,
"aa_end": null,
"aa_length": 1571,
"cds_start": 408,
"cds_end": null,
"cds_length": 4716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394534.7"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6987G>A",
"hgvs_p": "p.Gln2329Gln",
"transcript": "ENST00000359028.7",
"protein_id": "ENSP00000351922.4",
"transcript_support_level": 5,
"aa_start": 2329,
"aa_end": null,
"aa_length": 3931,
"cds_start": 6987,
"cds_end": null,
"cds_length": 11796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359028.7"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6915G>A",
"hgvs_p": "p.Gln2305Gln",
"transcript": "ENST00000681412.1",
"protein_id": "ENSP00000506486.1",
"transcript_support_level": null,
"aa_start": 2305,
"aa_end": null,
"aa_length": 3923,
"cds_start": 6915,
"cds_end": null,
"cds_length": 11772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681412.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6954G>A",
"hgvs_p": "p.Gln2318Gln",
"transcript": "ENST00000680534.1",
"protein_id": "ENSP00000506674.1",
"transcript_support_level": null,
"aa_start": 2318,
"aa_end": null,
"aa_length": 3920,
"cds_start": 6954,
"cds_end": null,
"cds_length": 11763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680534.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6891G>A",
"hgvs_p": "p.Gln2297Gln",
"transcript": "ENST00000681722.1",
"protein_id": "ENSP00000506566.1",
"transcript_support_level": null,
"aa_start": 2297,
"aa_end": null,
"aa_length": 3915,
"cds_start": 6891,
"cds_end": null,
"cds_length": 11748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681722.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6891G>A",
"hgvs_p": "p.Gln2297Gln",
"transcript": "NM_147185.3",
"protein_id": "NP_671714.1",
"transcript_support_level": null,
"aa_start": 2297,
"aa_end": null,
"aa_length": 3899,
"cds_start": 6891,
"cds_end": null,
"cds_length": 11700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147185.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6891G>A",
"hgvs_p": "p.Gln2297Gln",
"transcript": "ENST00000680766.1",
"protein_id": "ENSP00000505204.1",
"transcript_support_level": null,
"aa_start": 2297,
"aa_end": null,
"aa_length": 3899,
"cds_start": 6891,
"cds_end": null,
"cds_length": 11700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680766.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6861G>A",
"hgvs_p": "p.Gln2287Gln",
"transcript": "ENST00000679521.1",
"protein_id": "ENSP00000505456.1",
"transcript_support_level": null,
"aa_start": 2287,
"aa_end": null,
"aa_length": 3889,
"cds_start": 6861,
"cds_end": null,
"cds_length": 11670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679521.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6822G>A",
"hgvs_p": "p.Gln2274Gln",
"transcript": "ENST00000680181.1",
"protein_id": "ENSP00000505548.1",
"transcript_support_level": null,
"aa_start": 2274,
"aa_end": null,
"aa_length": 3876,
"cds_start": 6822,
"cds_end": null,
"cds_length": 11631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680181.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6810G>A",
"hgvs_p": "p.Gln2270Gln",
"transcript": "ENST00000925975.1",
"protein_id": "ENSP00000596034.1",
"transcript_support_level": null,
"aa_start": 2270,
"aa_end": null,
"aa_length": 3872,
"cds_start": 6810,
"cds_end": null,
"cds_length": 11619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925975.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6774G>A",
"hgvs_p": "p.Gln2258Gln",
"transcript": "ENST00000680513.1",
"protein_id": "ENSP00000505284.1",
"transcript_support_level": null,
"aa_start": 2258,
"aa_end": null,
"aa_length": 3860,
"cds_start": 6774,
"cds_end": null,
"cds_length": 11583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680513.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6750G>A",
"hgvs_p": "p.Gln2250Gln",
"transcript": "ENST00000925977.1",
"protein_id": "ENSP00000596036.1",
"transcript_support_level": null,
"aa_start": 2250,
"aa_end": null,
"aa_length": 3852,
"cds_start": 6750,
"cds_end": null,
"cds_length": 11559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925977.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6738G>A",
"hgvs_p": "p.Gln2246Gln",
"transcript": "ENST00000680072.1",
"protein_id": "ENSP00000506581.1",
"transcript_support_level": null,
"aa_start": 2246,
"aa_end": null,
"aa_length": 3848,
"cds_start": 6738,
"cds_end": null,
"cds_length": 11547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680072.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6702G>A",
"hgvs_p": "p.Gln2234Gln",
"transcript": "ENST00000925976.1",
"protein_id": "ENSP00000596035.1",
"transcript_support_level": null,
"aa_start": 2234,
"aa_end": null,
"aa_length": 3836,
"cds_start": 6702,
"cds_end": null,
"cds_length": 11511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925976.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6891G>A",
"hgvs_p": "p.Gln2297Gln",
"transcript": "ENST00000680952.1",
"protein_id": "ENSP00000506407.1",
"transcript_support_level": null,
"aa_start": 2297,
"aa_end": null,
"aa_length": 3827,
"cds_start": 6891,
"cds_end": null,
"cds_length": 11484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680952.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6657G>A",
"hgvs_p": "p.Gln2219Gln",
"transcript": "ENST00000679821.1",
"protein_id": "ENSP00000506040.1",
"transcript_support_level": null,
"aa_start": 2219,
"aa_end": null,
"aa_length": 3821,
"cds_start": 6657,
"cds_end": null,
"cds_length": 11466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679821.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.1560G>A",
"hgvs_p": "p.Gln520Gln",
"transcript": "NM_001379277.1",
"protein_id": "NP_001366206.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 2122,
"cds_start": 1560,
"cds_end": null,
"cds_length": 6369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379277.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.*6644G>A",
"hgvs_p": null,
"transcript": "ENST00000674381.2",
"protein_id": "ENSP00000501536.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000674381.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.6891G>A",
"hgvs_p": null,
"transcript": "ENST00000679448.1",
"protein_id": "ENSP00000505889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Benign",
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"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Long QT syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}