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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: 16-84177770-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=84177770&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 84177770,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000378553.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.2107G>C",
"hgvs_p": "p.Gly703Arg",
"transcript": "NM_178452.6",
"protein_id": "NP_848547.4",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 725,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": "ENST00000378553.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.2107G>C",
"hgvs_p": "p.Gly703Arg",
"transcript": "ENST00000378553.10",
"protein_id": "ENSP00000367815.5",
"transcript_support_level": 1,
"aa_start": 703,
"aa_end": null,
"aa_length": 725,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 2240,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": "NM_178452.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1399G>C",
"hgvs_p": "p.Gly467Arg",
"transcript": "NM_001318756.1",
"protein_id": "NP_001305685.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 489,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.502G>C",
"hgvs_p": "p.Gly168Arg",
"transcript": "ENST00000569735.1",
"protein_id": "ENSP00000454960.1",
"transcript_support_level": 2,
"aa_start": 168,
"aa_end": null,
"aa_length": 190,
"cds_start": 502,
"cds_end": null,
"cds_length": 573,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.2248G>C",
"hgvs_p": "p.Gly750Arg",
"transcript": "XM_011522853.4",
"protein_id": "XP_011521155.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 772,
"cds_start": 2248,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2381,
"cdna_end": null,
"cdna_length": 2531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.2200G>C",
"hgvs_p": "p.Gly734Arg",
"transcript": "XM_017022918.3",
"protein_id": "XP_016878407.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 756,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 2333,
"cdna_end": null,
"cdna_length": 2483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.2161G>C",
"hgvs_p": "p.Gly721Arg",
"transcript": "XM_011522854.4",
"protein_id": "XP_011521156.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 743,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 2294,
"cdna_end": null,
"cdna_length": 2444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.2155G>C",
"hgvs_p": "p.Gly719Arg",
"transcript": "XM_011522855.4",
"protein_id": "XP_011521157.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 741,
"cds_start": 2155,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 2438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.2113G>C",
"hgvs_p": "p.Gly705Arg",
"transcript": "XM_006721129.4",
"protein_id": "XP_006721192.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 727,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2246,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1987G>C",
"hgvs_p": "p.Gly663Arg",
"transcript": "XM_017022919.2",
"protein_id": "XP_016878408.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 685,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 2235,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.1492G>C",
"hgvs_p": "p.Gly498Arg",
"transcript": "XM_017022920.3",
"protein_id": "XP_016878409.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 520,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 1829,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "n.579G>C",
"hgvs_p": null,
"transcript": "ENST00000562024.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 727,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "n.1784G>C",
"hgvs_p": null,
"transcript": "ENST00000563818.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1931,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "n.4560G>C",
"hgvs_p": null,
"transcript": "ENST00000570298.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4708,
"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": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "n.2543G>C",
"hgvs_p": null,
"transcript": "ENST00000623406.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 2689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNAAF1",
"gene_hgnc_id": 30539,
"hgvs_c": "c.158-620G>C",
"hgvs_p": null,
"transcript": "ENST00000564928.1",
"protein_id": "ENSP00000457899.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 57,
"cds_start": -4,
"cds_end": null,
"cds_length": 174,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.*1171C>G",
"hgvs_p": null,
"transcript": "NM_001243156.2",
"protein_id": "NP_001230085.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 843,
"cds_start": -4,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3847,
"mane_select": "ENST00000566732.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.*1171C>G",
"hgvs_p": null,
"transcript": "ENST00000566732.6",
"protein_id": "ENSP00000455933.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 843,
"cds_start": -4,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3847,
"mane_select": "NM_001243156.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.*1171C>G",
"hgvs_p": null,
"transcript": "ENST00000341690.10",
"protein_id": "ENSP00000345305.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 775,
"cds_start": -4,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.*1171C>G",
"hgvs_p": null,
"transcript": "NM_005679.4",
"protein_id": "NP_005670.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 869,
"cds_start": -4,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.*1171C>G",
"hgvs_p": null,
"transcript": "ENST00000567759.5",
"protein_id": "ENSP00000455265.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 869,
"cds_start": -4,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.*1171C>G",
"hgvs_p": null,
"transcript": "NM_139353.3",
"protein_id": "NP_647610.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 775,
"cds_start": -4,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.*1171C>G",
"hgvs_p": null,
"transcript": "NM_001243157.2",
"protein_id": "NP_001230086.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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}