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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: 12-109794371-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109794371&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109794371,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000261740.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1449C>G",
"hgvs_p": "p.Val483Val",
"transcript": "NM_021625.5",
"protein_id": "NP_067638.3",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 871,
"cds_start": 1449,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": "ENST00000261740.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1449C>G",
"hgvs_p": "p.Val483Val",
"transcript": "ENST00000261740.7",
"protein_id": "ENSP00000261740.2",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 871,
"cds_start": 1449,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": "NM_021625.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1449C>G",
"hgvs_p": "p.Val483Val",
"transcript": "ENST00000418703.7",
"protein_id": "ENSP00000406191.2",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 871,
"cds_start": 1449,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 3245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1347C>G",
"hgvs_p": "p.Val449Val",
"transcript": "ENST00000536838.1",
"protein_id": "ENSP00000444336.1",
"transcript_support_level": 1,
"aa_start": 449,
"aa_end": null,
"aa_length": 837,
"cds_start": 1347,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 2514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1308C>G",
"hgvs_p": "p.Val436Val",
"transcript": "ENST00000541794.5",
"protein_id": "ENSP00000442167.1",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 824,
"cds_start": 1308,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 2475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1269C>G",
"hgvs_p": "p.Val423Val",
"transcript": "ENST00000537083.5",
"protein_id": "ENSP00000442738.1",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 811,
"cds_start": 1269,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 2436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1128C>G",
"hgvs_p": "p.Val376Val",
"transcript": "ENST00000544971.5",
"protein_id": "ENSP00000443611.1",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 764,
"cds_start": 1128,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 2295,
"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": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "n.1449C>G",
"hgvs_p": null,
"transcript": "ENST00000538125.5",
"protein_id": "ENSP00000437449.1",
"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": 2804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1449C>G",
"hgvs_p": "p.Val483Val",
"transcript": "ENST00000675670.1",
"protein_id": "ENSP00000502135.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 871,
"cds_start": 1449,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 1898,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1347C>G",
"hgvs_p": "p.Val449Val",
"transcript": "NM_001177431.1",
"protein_id": "NP_001170902.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 837,
"cds_start": 1347,
"cds_end": null,
"cds_length": 2514,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1308C>G",
"hgvs_p": "p.Val436Val",
"transcript": "NM_001177428.1",
"protein_id": "NP_001170899.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 824,
"cds_start": 1308,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1269C>G",
"hgvs_p": "p.Val423Val",
"transcript": "NM_147204.2",
"protein_id": "NP_671737.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 811,
"cds_start": 1269,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1300,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1128C>G",
"hgvs_p": "p.Val376Val",
"transcript": "NM_001177433.1",
"protein_id": "NP_001170904.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 764,
"cds_start": 1128,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1159,
"cdna_end": null,
"cdna_length": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1602C>G",
"hgvs_p": "p.Val534Val",
"transcript": "XM_011538630.3",
"protein_id": "XP_011536932.2",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 922,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 2640,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1461C>G",
"hgvs_p": "p.Val487Val",
"transcript": "XM_011538631.3",
"protein_id": "XP_011536933.2",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 875,
"cds_start": 1461,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2499,
"cdna_end": null,
"cdna_length": 4200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1449C>G",
"hgvs_p": "p.Val483Val",
"transcript": "XM_017019774.2",
"protein_id": "XP_016875263.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 871,
"cds_start": 1449,
"cds_end": null,
"cds_length": 2616,
"cdna_start": 2273,
"cdna_end": null,
"cdna_length": 3974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Val474Val",
"transcript": "XM_011538632.3",
"protein_id": "XP_011536934.2",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 862,
"cds_start": 1422,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2460,
"cdna_end": null,
"cdna_length": 4161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1308C>G",
"hgvs_p": "p.Val436Val",
"transcript": "XM_047429293.1",
"protein_id": "XP_047285249.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 824,
"cds_start": 1308,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 3089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1281C>G",
"hgvs_p": "p.Val427Val",
"transcript": "XM_011538633.3",
"protein_id": "XP_011536935.2",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 815,
"cds_start": 1281,
"cds_end": null,
"cds_length": 2448,
"cdna_start": 2320,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1269C>G",
"hgvs_p": "p.Val423Val",
"transcript": "XM_047429294.1",
"protein_id": "XP_047285250.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 811,
"cds_start": 1269,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1602C>G",
"hgvs_p": "p.Val534Val",
"transcript": "XM_011538634.3",
"protein_id": "XP_011536936.2",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 793,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2642,
"cdna_end": null,
"cdna_length": 3488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1128C>G",
"hgvs_p": "p.Val376Val",
"transcript": "XM_047429295.1",
"protein_id": "XP_047285251.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 764,
"cds_start": 1128,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 2909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPV4",
"gene_hgnc_id": 18083,
"hgvs_c": "c.1602C>G",
"hgvs_p": "p.Val534Val",
"transcript": "XM_011538635.3",
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},
{
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},
{
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},
{
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},
{
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},
{
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"3_prime_UTR_variant"
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}
],
"gene_symbol": "TRPV4",
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"dbsnp": "rs1060504550",
"frequency_reference_population": 0.0000105367935,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000752786,
"gnomad_genomes_af": 0.0000394332,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.212,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000261740.7",
"gene_symbol": "TRPV4",
"hgnc_id": 18083,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1449C>G",
"hgvs_p": "p.Val483Val"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease axonal type 2C,Inborn genetic diseases",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Charcot-Marie-Tooth disease axonal type 2C|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}