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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: 16-8768905-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=8768905&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 8768905,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000268251.13",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "NM_020686.6",
"protein_id": "NP_065737.2",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 500,
"cds_start": 748,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": "ENST00000268251.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "ENST00000268251.13",
"protein_id": "ENSP00000268251.8",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 500,
"cds_start": 748,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": "NM_020686.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "ENST00000569156.5",
"protein_id": "ENSP00000454963.1",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 515,
"cds_start": 748,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1005,
"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": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "n.*488C>G",
"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": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "n.*488C>G",
"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": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.844C>G",
"hgvs_p": "p.Arg282Gly",
"transcript": "NM_001386615.1",
"protein_id": "NP_001373544.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 532,
"cds_start": 844,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "NM_001386616.1",
"protein_id": "NP_001373545.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 515,
"cds_start": 748,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 4965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.793C>G",
"hgvs_p": "p.Arg265Gly",
"transcript": "ENST00000567812.5",
"protein_id": "ENSP00000456330.1",
"transcript_support_level": 2,
"aa_start": 265,
"aa_end": null,
"aa_length": 515,
"cds_start": 793,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1055,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "NM_000663.5",
"protein_id": "NP_000654.2",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 500,
"cds_start": 748,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "NM_001127448.2",
"protein_id": "NP_001120920.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 500,
"cds_start": 748,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 4906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "NM_001386600.1",
"protein_id": "NP_001373529.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 500,
"cds_start": 748,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 5463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "NM_001386601.1",
"protein_id": "NP_001373530.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 500,
"cds_start": 748,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "NM_001386602.1",
"protein_id": "NP_001373531.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 500,
"cds_start": 748,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 4880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "NM_001386603.1",
"protein_id": "NP_001373532.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 500,
"cds_start": 748,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 5128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "NM_001386604.1",
"protein_id": "NP_001373533.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 500,
"cds_start": 748,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "ENST00000396600.6",
"protein_id": "ENSP00000379845.2",
"transcript_support_level": 5,
"aa_start": 250,
"aa_end": null,
"aa_length": 500,
"cds_start": 748,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 5586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "ENST00000425191.6",
"protein_id": "ENSP00000411916.2",
"transcript_support_level": 2,
"aa_start": 250,
"aa_end": null,
"aa_length": 500,
"cds_start": 748,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "NM_001386605.1",
"protein_id": "NP_001373534.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 487,
"cds_start": 748,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 4740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.685C>G",
"hgvs_p": "p.Arg229Gly",
"transcript": "NM_001386606.1",
"protein_id": "NP_001373535.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 479,
"cds_start": 685,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 4907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.685C>G",
"hgvs_p": "p.Arg229Gly",
"transcript": "NM_001386607.1",
"protein_id": "NP_001373536.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 479,
"cds_start": 685,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 4716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.655C>G",
"hgvs_p": "p.Arg219Gly",
"transcript": "NM_001386608.1",
"protein_id": "NP_001373537.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 469,
"cds_start": 655,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 4686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.748C>G",
"hgvs_p": "p.Arg250Gly",
"transcript": "NM_001386609.1",
"protein_id": "NP_001373538.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 458,
"cds_start": 748,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 4667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABAT",
"gene_hgnc_id": 23,
"hgvs_c": "c.613C>G",
"hgvs_p": "p.Arg205Gly",
"transcript": "NM_001386610.1",
"protein_id": "NP_001373539.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 455,
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"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Gamma-aminobutyric acid transaminase deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}