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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: 9-37763734-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=37763734&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 37763734,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000297994.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Thr134Ile",
"transcript": "NM_144964.4",
"protein_id": "NP_659401.2",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 316,
"cds_start": 401,
"cds_end": null,
"cds_length": 951,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": "ENST00000297994.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Thr134Ile",
"transcript": "ENST00000297994.4",
"protein_id": "ENSP00000297994.3",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 316,
"cds_start": 401,
"cds_end": null,
"cds_length": 951,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 2293,
"mane_select": "NM_144964.4",
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "n.401C>T",
"hgvs_p": null,
"transcript": "ENST00000488673.6",
"protein_id": "ENSP00000437395.1",
"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": 1443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255872",
"gene_hgnc_id": null,
"hgvs_c": "n.*910+20180G>A",
"hgvs_p": null,
"transcript": "ENST00000540557.1",
"protein_id": "ENSP00000457548.1",
"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": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Thr134Ile",
"transcript": "NM_001286950.2",
"protein_id": "NP_001273879.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 256,
"cds_start": 401,
"cds_end": null,
"cds_length": 771,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 2113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Thr134Ile",
"transcript": "ENST00000537911.5",
"protein_id": "ENSP00000444997.1",
"transcript_support_level": 2,
"aa_start": 134,
"aa_end": null,
"aa_length": 256,
"cds_start": 401,
"cds_end": null,
"cds_length": 771,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 2108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Thr39Ile",
"transcript": "NM_001286951.2",
"protein_id": "NP_001273880.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 221,
"cds_start": 116,
"cds_end": null,
"cds_length": 666,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Thr39Ile",
"transcript": "ENST00000377754.6",
"protein_id": "ENSP00000366983.2",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 221,
"cds_start": 116,
"cds_end": null,
"cds_length": 666,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Thr147Ile",
"transcript": "XM_011517735.4",
"protein_id": "XP_011516037.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 329,
"cds_start": 440,
"cds_end": null,
"cds_length": 990,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Thr147Ile",
"transcript": "XM_011517736.4",
"protein_id": "XP_011516038.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 320,
"cds_start": 440,
"cds_end": null,
"cds_length": 963,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 2611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Thr134Ile",
"transcript": "XM_024447426.2",
"protein_id": "XP_024303194.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 307,
"cds_start": 401,
"cds_end": null,
"cds_length": 924,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Thr147Ile",
"transcript": "XM_047422833.1",
"protein_id": "XP_047278789.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 295,
"cds_start": 440,
"cds_end": null,
"cds_length": 888,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Thr147Ile",
"transcript": "XM_017014313.3",
"protein_id": "XP_016869802.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 285,
"cds_start": 440,
"cds_end": null,
"cds_length": 858,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 6519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Thr147Ile",
"transcript": "XM_011517742.2",
"protein_id": "XP_011516044.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 187,
"cds_start": 440,
"cds_end": null,
"cds_length": 564,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Thr2Ile",
"transcript": "XM_047422834.1",
"protein_id": "XP_047278790.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 184,
"cds_start": 5,
"cds_end": null,
"cds_length": 555,
"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Asp75Asp",
"transcript": "NM_001286954.2",
"protein_id": "NP_001273883.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 196,
"cds_start": 225,
"cds_end": null,
"cds_length": 591,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 2109,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "n.401C>T",
"hgvs_p": null,
"transcript": "ENST00000537016.5",
"protein_id": "ENSP00000444612.1",
"transcript_support_level": 3,
"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": 777,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "n.*73C>T",
"hgvs_p": null,
"transcript": "ENST00000538370.5",
"protein_id": "ENSP00000445362.1",
"transcript_support_level": 4,
"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": 576,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "n.*216C>T",
"hgvs_p": null,
"transcript": "ENST00000540616.5",
"protein_id": "ENSP00000446050.1",
"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": 523,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOSC3",
"gene_hgnc_id": 17944,
"hgvs_c": "n.*297G>A",
"hgvs_p": null,
"transcript": "ENST00000678095.1",
"protein_id": "ENSP00000503205.1",
"transcript_support_level": null,
"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": 3540,
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "n.478C>T",
"hgvs_p": null,
"transcript": "NR_104612.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2405,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "n.478C>T",
"hgvs_p": null,
"transcript": "XR_007061248.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6207,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMT10B",
"gene_hgnc_id": 26454,
"hgvs_c": "n.*73C>T",
"hgvs_p": null,
"transcript": "ENST00000538370.5",
"protein_id": "ENSP00000445362.1",
"transcript_support_level": 4,
"aa_start": null,
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}
],
"message": null
}