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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: 22-46353829-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=46353829&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 46353829,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018006.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.835G>C",
"hgvs_p": "p.Val279Leu",
"transcript": "NM_018006.5",
"protein_id": "NP_060476.2",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 421,
"cds_start": 835,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000645190.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018006.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.835G>C",
"hgvs_p": "p.Val279Leu",
"transcript": "ENST00000645190.1",
"protein_id": "ENSP00000496496.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 421,
"cds_start": 835,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018006.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645190.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.835G>C",
"hgvs_p": "p.Val279Leu",
"transcript": "ENST00000381019.3",
"protein_id": "ENSP00000370407.3",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 376,
"cds_start": 835,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381019.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "n.*369G>C",
"hgvs_p": null,
"transcript": "ENST00000441818.5",
"protein_id": "ENSP00000393014.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000441818.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "n.*369G>C",
"hgvs_p": null,
"transcript": "ENST00000456595.5",
"protein_id": "ENSP00000413880.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000456595.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "n.*369G>C",
"hgvs_p": null,
"transcript": "ENST00000441818.5",
"protein_id": "ENSP00000393014.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000441818.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "n.*369G>C",
"hgvs_p": null,
"transcript": "ENST00000456595.5",
"protein_id": "ENSP00000413880.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000456595.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.958G>C",
"hgvs_p": "p.Val320Leu",
"transcript": "ENST00000963412.1",
"protein_id": "ENSP00000633471.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 462,
"cds_start": 958,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963412.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.874G>C",
"hgvs_p": "p.Val292Leu",
"transcript": "ENST00000963413.1",
"protein_id": "ENSP00000633472.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 434,
"cds_start": 874,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963413.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.835G>C",
"hgvs_p": "p.Val279Leu",
"transcript": "ENST00000923368.1",
"protein_id": "ENSP00000593427.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 420,
"cds_start": 835,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923368.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.826G>C",
"hgvs_p": "p.Val276Leu",
"transcript": "ENST00000867895.1",
"protein_id": "ENSP00000537954.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 418,
"cds_start": 826,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867895.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.835G>C",
"hgvs_p": "p.Val279Leu",
"transcript": "ENST00000867894.1",
"protein_id": "ENSP00000537953.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 412,
"cds_start": 835,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867894.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.835G>C",
"hgvs_p": "p.Val279Leu",
"transcript": "NM_001282785.2",
"protein_id": "NP_001269714.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 376,
"cds_start": 835,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282785.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.730G>C",
"hgvs_p": "p.Val244Leu",
"transcript": "ENST00000643137.1",
"protein_id": "ENSP00000495331.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 341,
"cds_start": 730,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643137.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.730G>C",
"hgvs_p": "p.Val244Leu",
"transcript": "ENST00000642923.1",
"protein_id": "ENSP00000494255.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 330,
"cds_start": 730,
"cds_end": null,
"cds_length": 995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642923.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.550G>C",
"hgvs_p": "p.Val184Leu",
"transcript": "ENST00000867896.1",
"protein_id": "ENSP00000537955.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 326,
"cds_start": 550,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867896.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.493G>C",
"hgvs_p": "p.Val165Leu",
"transcript": "NM_001282782.2",
"protein_id": "NP_001269711.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 307,
"cds_start": 493,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282782.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.415G>C",
"hgvs_p": "p.Val139Leu",
"transcript": "NM_001282783.2",
"protein_id": "NP_001269712.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 281,
"cds_start": 415,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282783.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.415G>C",
"hgvs_p": "p.Val139Leu",
"transcript": "NM_001282784.2",
"protein_id": "NP_001269713.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 236,
"cds_start": 415,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282784.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.439G>C",
"hgvs_p": "p.Val147Leu",
"transcript": "XM_047441444.1",
"protein_id": "XP_047297400.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 289,
"cds_start": 439,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441444.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.493G>C",
"hgvs_p": "p.Val165Leu",
"transcript": "XM_047441445.1",
"protein_id": "XP_047297401.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 262,
"cds_start": 493,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441445.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRMU",
"gene_hgnc_id": 25481,
"hgvs_c": "c.439G>C",
"hgvs_p": "p.Val147Leu",
"transcript": "XM_047441446.1",
"protein_id": "XP_047297402.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 244,
"cds_start": 439,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441446.1"
},
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}