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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: 16-8774899-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=8774899&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 8774899,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000268251.13",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Ala322Thr",
"transcript": "NM_020686.6",
"protein_id": "NP_065737.2",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 500,
"cds_start": 964,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": "ENST00000268251.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Ala322Thr",
"transcript": "ENST00000268251.13",
"protein_id": "ENSP00000268251.8",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 500,
"cds_start": 964,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": "NM_020686.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Ala322Thr",
"transcript": "ENST00000569156.5",
"protein_id": "ENSP00000454963.1",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 515,
"cds_start": 964,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 1911,
"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": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "n.*704G>A",
"hgvs_p": null,
"transcript": "ENST00000566590.5",
"protein_id": "ENSP00000455198.1",
"transcript_support_level": 1,
"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": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "n.*704G>A",
"hgvs_p": null,
"transcript": "ENST00000566590.5",
"protein_id": "ENSP00000455198.1",
"transcript_support_level": 1,
"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": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Ala354Thr",
"transcript": "NM_001386615.1",
"protein_id": "NP_001373544.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 532,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Ala322Thr",
"transcript": "NM_001386616.1",
"protein_id": "NP_001373545.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 515,
"cds_start": 964,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 4965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Ala337Thr",
"transcript": "ENST00000567812.5",
"protein_id": "ENSP00000456330.1",
"transcript_support_level": 2,
"aa_start": 337,
"aa_end": null,
"aa_length": 515,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Ala322Thr",
"transcript": "NM_000663.5",
"protein_id": "NP_000654.2",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 500,
"cds_start": 964,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Ala322Thr",
"transcript": "NM_001127448.2",
"protein_id": "NP_001120920.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 500,
"cds_start": 964,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 4906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Ala322Thr",
"transcript": "NM_001386600.1",
"protein_id": "NP_001373529.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 500,
"cds_start": 964,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 5463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Ala322Thr",
"transcript": "NM_001386601.1",
"protein_id": "NP_001373530.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 500,
"cds_start": 964,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Ala322Thr",
"transcript": "NM_001386602.1",
"protein_id": "NP_001373531.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 500,
"cds_start": 964,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 4880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Ala322Thr",
"transcript": "NM_001386603.1",
"protein_id": "NP_001373532.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 500,
"cds_start": 964,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 5128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Ala322Thr",
"transcript": "NM_001386604.1",
"protein_id": "NP_001373533.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 500,
"cds_start": 964,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Ala322Thr",
"transcript": "ENST00000396600.6",
"protein_id": "ENSP00000379845.2",
"transcript_support_level": 5,
"aa_start": 322,
"aa_end": null,
"aa_length": 500,
"cds_start": 964,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 5586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Ala322Thr",
"transcript": "ENST00000425191.6",
"protein_id": "ENSP00000411916.2",
"transcript_support_level": 2,
"aa_start": 322,
"aa_end": null,
"aa_length": 500,
"cds_start": 964,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1224,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.925G>A",
"hgvs_p": "p.Ala309Thr",
"transcript": "NM_001386605.1",
"protein_id": "NP_001373534.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 487,
"cds_start": 925,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1061,
"cdna_end": null,
"cdna_length": 4740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Ala301Thr",
"transcript": "NM_001386606.1",
"protein_id": "NP_001373535.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 479,
"cds_start": 901,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 4907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Ala301Thr",
"transcript": "NM_001386607.1",
"protein_id": "NP_001373536.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 479,
"cds_start": 901,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 4716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Ala291Thr",
"transcript": "NM_001386608.1",
"protein_id": "NP_001373537.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 469,
"cds_start": 871,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 4686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.964G>A",
"hgvs_p": "p.Ala322Thr",
"transcript": "NM_001386609.1",
"protein_id": "NP_001373538.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 458,
"cds_start": 964,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 4667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Ala277Thr",
"transcript": "NM_001386610.1",
"protein_id": "NP_001373539.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
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{
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}
],
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"dbsnp": "rs201221998",
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"computational_score_selected": 0.7566286325454712,
"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.677,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3849,
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"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.964,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
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"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000268251.13",
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"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "Gamma-aminobutyric acid transaminase deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Gamma-aminobutyric acid transaminase deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}