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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: 7-92099831-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=92099831&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 92099831,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005751.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.10858A>G",
"hgvs_p": "p.Ile3620Val",
"transcript": "NM_005751.5",
"protein_id": "NP_005742.4",
"transcript_support_level": null,
"aa_start": 3620,
"aa_end": null,
"aa_length": 3907,
"cds_start": 10858,
"cds_end": null,
"cds_length": 11724,
"cdna_start": 11096,
"cdna_end": null,
"cdna_length": 12476,
"mane_select": "ENST00000356239.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005751.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.10858A>G",
"hgvs_p": "p.Ile3620Val",
"transcript": "ENST00000356239.8",
"protein_id": "ENSP00000348573.3",
"transcript_support_level": 1,
"aa_start": 3620,
"aa_end": null,
"aa_length": 3907,
"cds_start": 10858,
"cds_end": null,
"cds_length": 11724,
"cdna_start": 11096,
"cdna_end": null,
"cdna_length": 12476,
"mane_select": "NM_005751.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356239.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.5503A>G",
"hgvs_p": "p.Ile1835Val",
"transcript": "ENST00000491695.2",
"protein_id": "ENSP00000494626.2",
"transcript_support_level": 1,
"aa_start": 1835,
"aa_end": null,
"aa_length": 2122,
"cds_start": 5503,
"cds_end": null,
"cds_length": 6369,
"cdna_start": 6046,
"cdna_end": null,
"cdna_length": 7413,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491695.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.3850A>G",
"hgvs_p": "p.Ile1284Val",
"transcript": "ENST00000394534.7",
"protein_id": "ENSP00000378042.3",
"transcript_support_level": 1,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1571,
"cds_start": 3850,
"cds_end": null,
"cds_length": 4716,
"cdna_start": 3850,
"cdna_end": null,
"cdna_length": 5149,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394534.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.10930A>G",
"hgvs_p": "p.Ile3644Val",
"transcript": "ENST00000359028.7",
"protein_id": "ENSP00000351922.4",
"transcript_support_level": 5,
"aa_start": 3644,
"aa_end": null,
"aa_length": 3931,
"cds_start": 10930,
"cds_end": null,
"cds_length": 11796,
"cdna_start": 10930,
"cdna_end": null,
"cdna_length": 12219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359028.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.10858A>G",
"hgvs_p": "p.Ile3620Val",
"transcript": "ENST00000681412.1",
"protein_id": "ENSP00000506486.1",
"transcript_support_level": null,
"aa_start": 3620,
"aa_end": null,
"aa_length": 3923,
"cds_start": 10858,
"cds_end": null,
"cds_length": 11772,
"cdna_start": 11080,
"cdna_end": null,
"cdna_length": 13915,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681412.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.10897A>G",
"hgvs_p": "p.Ile3633Val",
"transcript": "ENST00000680534.1",
"protein_id": "ENSP00000506674.1",
"transcript_support_level": null,
"aa_start": 3633,
"aa_end": null,
"aa_length": 3920,
"cds_start": 10897,
"cds_end": null,
"cds_length": 11763,
"cdna_start": 11157,
"cdna_end": null,
"cdna_length": 12537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680534.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.10834A>G",
"hgvs_p": "p.Ile3612Val",
"transcript": "ENST00000681722.1",
"protein_id": "ENSP00000506566.1",
"transcript_support_level": null,
"aa_start": 3612,
"aa_end": null,
"aa_length": 3915,
"cds_start": 10834,
"cds_end": null,
"cds_length": 11748,
"cdna_start": 11072,
"cdna_end": null,
"cdna_length": 12328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681722.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.10834A>G",
"hgvs_p": "p.Ile3612Val",
"transcript": "NM_147185.3",
"protein_id": "NP_671714.1",
"transcript_support_level": null,
"aa_start": 3612,
"aa_end": null,
"aa_length": 3899,
"cds_start": 10834,
"cds_end": null,
"cds_length": 11700,
"cdna_start": 11072,
"cdna_end": null,
"cdna_length": 12452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147185.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.10834A>G",
"hgvs_p": "p.Ile3612Val",
"transcript": "ENST00000680766.1",
"protein_id": "ENSP00000505204.1",
"transcript_support_level": null,
"aa_start": 3612,
"aa_end": null,
"aa_length": 3899,
"cds_start": 10834,
"cds_end": null,
"cds_length": 11700,
"cdna_start": 11056,
"cdna_end": null,
"cdna_length": 12423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680766.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.10804A>G",
"hgvs_p": "p.Ile3602Val",
"transcript": "ENST00000679521.1",
"protein_id": "ENSP00000505456.1",
"transcript_support_level": null,
"aa_start": 3602,
"aa_end": null,
"aa_length": 3889,
"cds_start": 10804,
"cds_end": null,
"cds_length": 11670,
"cdna_start": 11042,
"cdna_end": null,
"cdna_length": 12422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679521.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.10765A>G",
"hgvs_p": "p.Ile3589Val",
"transcript": "ENST00000680181.1",
"protein_id": "ENSP00000505548.1",
"transcript_support_level": null,
"aa_start": 3589,
"aa_end": null,
"aa_length": 3876,
"cds_start": 10765,
"cds_end": null,
"cds_length": 11631,
"cdna_start": 11003,
"cdna_end": null,
"cdna_length": 12370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680181.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.10753A>G",
"hgvs_p": "p.Ile3585Val",
"transcript": "ENST00000925975.1",
"protein_id": "ENSP00000596034.1",
"transcript_support_level": null,
"aa_start": 3585,
"aa_end": null,
"aa_length": 3872,
"cds_start": 10753,
"cds_end": null,
"cds_length": 11619,
"cdna_start": 10991,
"cdna_end": null,
"cdna_length": 12369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925975.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.10717A>G",
"hgvs_p": "p.Ile3573Val",
"transcript": "ENST00000680513.1",
"protein_id": "ENSP00000505284.1",
"transcript_support_level": null,
"aa_start": 3573,
"aa_end": null,
"aa_length": 3860,
"cds_start": 10717,
"cds_end": null,
"cds_length": 11583,
"cdna_start": 10977,
"cdna_end": null,
"cdna_length": 12357,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680513.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.10693A>G",
"hgvs_p": "p.Ile3565Val",
"transcript": "ENST00000925977.1",
"protein_id": "ENSP00000596036.1",
"transcript_support_level": null,
"aa_start": 3565,
"aa_end": null,
"aa_length": 3852,
"cds_start": 10693,
"cds_end": null,
"cds_length": 11559,
"cdna_start": 10914,
"cdna_end": null,
"cdna_length": 12052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925977.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.10681A>G",
"hgvs_p": "p.Ile3561Val",
"transcript": "ENST00000680072.1",
"protein_id": "ENSP00000506581.1",
"transcript_support_level": null,
"aa_start": 3561,
"aa_end": null,
"aa_length": 3848,
"cds_start": 10681,
"cds_end": null,
"cds_length": 11547,
"cdna_start": 10941,
"cdna_end": null,
"cdna_length": 12321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680072.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.10645A>G",
"hgvs_p": "p.Ile3549Val",
"transcript": "ENST00000925976.1",
"protein_id": "ENSP00000596035.1",
"transcript_support_level": null,
"aa_start": 3549,
"aa_end": null,
"aa_length": 3836,
"cds_start": 10645,
"cds_end": null,
"cds_length": 11511,
"cdna_start": 10872,
"cdna_end": null,
"cdna_length": 12249,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925976.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.10834A>G",
"hgvs_p": "p.Ile3612Val",
"transcript": "ENST00000680952.1",
"protein_id": "ENSP00000506407.1",
"transcript_support_level": null,
"aa_start": 3612,
"aa_end": null,
"aa_length": 3827,
"cds_start": 10834,
"cds_end": null,
"cds_length": 11484,
"cdna_start": 11056,
"cdna_end": null,
"cdna_length": 12118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680952.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.10600A>G",
"hgvs_p": "p.Ile3534Val",
"transcript": "ENST00000679821.1",
"protein_id": "ENSP00000506040.1",
"transcript_support_level": null,
"aa_start": 3534,
"aa_end": null,
"aa_length": 3821,
"cds_start": 10600,
"cds_end": null,
"cds_length": 11466,
"cdna_start": 10840,
"cdna_end": null,
"cdna_length": 12207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679821.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.5503A>G",
"hgvs_p": "p.Ile1835Val",
"transcript": "NM_001379277.1",
"protein_id": "NP_001366206.1",
"transcript_support_level": null,
"aa_start": 1835,
"aa_end": null,
"aa_length": 2122,
"cds_start": 5503,
"cds_end": null,
"cds_length": 6369,
"cdna_start": 6094,
"cdna_end": null,
"cdna_length": 7474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379277.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.346A>G",
"hgvs_p": "p.Ile116Val",
"transcript": "ENST00000486313.2",
"protein_id": "ENSP00000505389.1",
"transcript_support_level": 3,
"aa_start": 116,
"aa_end": null,
"aa_length": 287,
"cds_start": 346,
"cds_end": null,
"cds_length": 864,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 1365,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486313.2"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CYP51A1",
"gene_hgnc_id": 2649,
"hgvs_c": "c.1352-14229T>C",
"hgvs_p": null,
"transcript": "ENST00000691309.1",
"protein_id": "ENSP00000510368.1",
"transcript_support_level": null,
"aa_start": null,
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],
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"dbsnp": "rs142729919",
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"allele_count_reference_population": 852,
"gnomad_exomes_af": 0.000294843,
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"gnomad_genomes_ac": 421,
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"computational_score_selected": 0.006217896938323975,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7699999809265137,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.054,
"revel_prediction": "Benign",
"alphamissense_score": 0.1276,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.399,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.77,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -7,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 8,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NM_005751.5",
"gene_symbol": "AKAP9",
"hgnc_id": 379,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.10858A>G",
"hgvs_p": "p.Ile3620Val"
},
{
"score": -7,
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"criteria": [
"PP3",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000691309.1",
"gene_symbol": "CYP51A1",
"hgnc_id": 2649,
"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "Cardiovascular phenotype,Congenital long QT syndrome,Long QT syndrome,Long QT syndrome 11,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:5",
"phenotype_combined": "not specified|Long QT syndrome|Congenital long QT syndrome|not provided|Long QT syndrome 11|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}