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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: 16-3658192-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3658192&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 3658192,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000246957.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAP1",
"gene_hgnc_id": 16264,
"hgvs_c": "c.2052C>G",
"hgvs_p": "p.Asp684Glu",
"transcript": "NM_016292.3",
"protein_id": "NP_057376.2",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 704,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": "ENST00000246957.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAP1",
"gene_hgnc_id": 16264,
"hgvs_c": "c.2052C>G",
"hgvs_p": "p.Asp684Glu",
"transcript": "ENST00000246957.10",
"protein_id": "ENSP00000246957.5",
"transcript_support_level": 1,
"aa_start": 684,
"aa_end": null,
"aa_length": 704,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": "NM_016292.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAP1",
"gene_hgnc_id": 16264,
"hgvs_c": "c.1425C>G",
"hgvs_p": "p.Asp475Glu",
"transcript": "ENST00000575671.5",
"protein_id": "ENSP00000458166.1",
"transcript_support_level": 1,
"aa_start": 475,
"aa_end": null,
"aa_length": 495,
"cds_start": 1425,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 2155,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.*239G>C",
"hgvs_p": null,
"transcript": "ENST00000407479.5",
"protein_id": "ENSP00000385905.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": -4,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAP1",
"gene_hgnc_id": 16264,
"hgvs_c": "c.1893C>G",
"hgvs_p": "p.Asp631Glu",
"transcript": "NM_001272049.2",
"protein_id": "NP_001258978.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 651,
"cds_start": 1893,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1909,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAP1",
"gene_hgnc_id": 16264,
"hgvs_c": "c.1893C>G",
"hgvs_p": "p.Asp631Glu",
"transcript": "ENST00000538171.5",
"protein_id": "ENSP00000442070.1",
"transcript_support_level": 2,
"aa_start": 631,
"aa_end": null,
"aa_length": 651,
"cds_start": 1893,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1898,
"cdna_end": null,
"cdna_length": 2052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAP1",
"gene_hgnc_id": 16264,
"hgvs_c": "c.1632C>G",
"hgvs_p": "p.Asp544Glu",
"transcript": "XM_011522345.3",
"protein_id": "XP_011520647.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 564,
"cds_start": 1632,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAP1",
"gene_hgnc_id": 16264,
"hgvs_c": "n.393C>G",
"hgvs_p": null,
"transcript": "ENST00000574494.1",
"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": 547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRAP1",
"gene_hgnc_id": 16264,
"hgvs_c": "n.114C>G",
"hgvs_p": null,
"transcript": "ENST00000575707.5",
"protein_id": "ENSP00000459385.1",
"transcript_support_level": 5,
"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": 785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.*346G>C",
"hgvs_p": null,
"transcript": "ENST00000576792.1",
"protein_id": "ENSP00000461129.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 72,
"cds_start": -4,
"cds_end": null,
"cds_length": 219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 580,
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.*21+325G>C",
"hgvs_p": null,
"transcript": "NM_001387140.1",
"protein_id": "NP_001374069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": -4,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4668,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.*21+325G>C",
"hgvs_p": null,
"transcript": "ENST00000575479.1",
"protein_id": "ENSP00000461153.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 64,
"cds_start": -4,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "n.*416+376G>C",
"hgvs_p": null,
"transcript": "ENST00000571460.5",
"protein_id": "ENSP00000459850.1",
"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": 1377,
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.*21+325G>C",
"hgvs_p": null,
"transcript": "XM_024450170.2",
"protein_id": "XP_024305938.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": -4,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8312,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.*239G>C",
"hgvs_p": null,
"transcript": "NM_005223.4",
"protein_id": "NP_005214.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": -4,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": "ENST00000246949.10",
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.*239G>C",
"hgvs_p": null,
"transcript": "ENST00000246949.10",
"protein_id": "ENSP00000246949.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": -4,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1346,
"mane_select": "NM_005223.4",
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.*239G>C",
"hgvs_p": null,
"transcript": "NM_001387139.1",
"protein_id": "NP_001374068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 305,
"cds_start": -4,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1415,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.*239G>C",
"hgvs_p": null,
"transcript": "NM_001351825.2",
"protein_id": "NP_001338754.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": -4,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1181,
"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": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.*239G>C",
"hgvs_p": null,
"transcript": "NM_001387135.1",
"protein_id": "NP_001374064.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 282,
"cds_start": -4,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1991,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.*239G>C",
"hgvs_p": null,
"transcript": "NM_001387141.1",
"protein_id": "NP_001374070.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": -4,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1257,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "c.*298G>C",
"hgvs_p": null,
"transcript": "ENST00000570664.1",
"protein_id": "ENSP00000459507.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 108,
"cds_start": -4,
"cds_end": null,
"cds_length": 327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"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": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "n.*931G>C",
"hgvs_p": null,
"transcript": "ENST00000570769.5",
"protein_id": "ENSP00000458467.1",
"transcript_support_level": 5,
"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": 2732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNASE1",
"gene_hgnc_id": 2956,
"hgvs_c": "n.*598G>C",
"hgvs_p": null,
"transcript": "ENST00000570807.5",
"protein_id": "ENSP00000458959.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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}