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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: 19-49807197-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49807197&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49807197,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000313777.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404Gln",
"transcript": "NM_025129.5",
"protein_id": "NP_079405.2",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 418,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": "ENST00000313777.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Arg404Gln",
"transcript": "ENST00000313777.9",
"protein_id": "ENSP00000313309.4",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 418,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": "NM_025129.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405Gln",
"transcript": "NM_001352262.2",
"protein_id": "NP_001339191.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 419,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 1731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Arg368Gln",
"transcript": "NM_001171937.2",
"protein_id": "NP_001165408.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 382,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 1620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Arg368Gln",
"transcript": "ENST00000528094.5",
"protein_id": "ENSP00000435177.1",
"transcript_support_level": 2,
"aa_start": 368,
"aa_end": null,
"aa_length": 382,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 1479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Arg354Gln",
"transcript": "NM_001363663.1",
"protein_id": "NP_001350592.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 368,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 1591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Arg354Gln",
"transcript": "ENST00000533418.5",
"protein_id": "ENSP00000431731.1",
"transcript_support_level": 5,
"aa_start": 354,
"aa_end": null,
"aa_length": 368,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355Gln",
"transcript": "XM_011527340.2",
"protein_id": "XP_011525642.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 369,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 1594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1064G>A",
"hgvs_p": "p.Arg355Gln",
"transcript": "XM_011527341.3",
"protein_id": "XP_011525643.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 369,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 1642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1043G>A",
"hgvs_p": "p.Arg348Gln",
"transcript": "XM_024451729.2",
"protein_id": "XP_024307497.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 362,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 1551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.1040G>A",
"hgvs_p": "p.Arg347Gln",
"transcript": "XM_024451730.2",
"protein_id": "XP_024307498.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 361,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.914G>A",
"hgvs_p": "p.Arg305Gln",
"transcript": "XM_011527346.2",
"protein_id": "XP_011525648.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 319,
"cds_start": 914,
"cds_end": null,
"cds_length": 960,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.914G>A",
"hgvs_p": "p.Arg305Gln",
"transcript": "XM_047439463.1",
"protein_id": "XP_047295419.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 319,
"cds_start": 914,
"cds_end": null,
"cds_length": 960,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 1405,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.*951G>A",
"hgvs_p": null,
"transcript": "ENST00000377092.8",
"protein_id": "ENSP00000366296.5",
"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": 1632,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.*865G>A",
"hgvs_p": null,
"transcript": "ENST00000525130.5",
"protein_id": "ENSP00000433492.1",
"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": 1538,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.*868G>A",
"hgvs_p": null,
"transcript": "ENST00000525370.5",
"protein_id": "ENSP00000431420.1",
"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": 1483,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.1312G>A",
"hgvs_p": null,
"transcript": "NR_033269.2",
"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": 1643,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.1586G>A",
"hgvs_p": null,
"transcript": "XR_007067015.1",
"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": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.*197G>A",
"hgvs_p": null,
"transcript": "ENST00000529634.2",
"protein_id": "ENSP00000432148.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 55,
"cds_start": -4,
"cds_end": null,
"cds_length": 168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.*951G>A",
"hgvs_p": null,
"transcript": "ENST00000377092.8",
"protein_id": "ENSP00000366296.5",
"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": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.*865G>A",
"hgvs_p": null,
"transcript": "ENST00000525130.5",
"protein_id": "ENSP00000433492.1",
"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": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "n.*868G>A",
"hgvs_p": null,
"transcript": "ENST00000525370.5",
"protein_id": "ENSP00000431420.1",
"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": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUZ",
"gene_hgnc_id": 26219,
"hgvs_c": "c.*197G>A",
"hgvs_p": null,
"transcript": "XM_011527343.2",
"protein_id": "XP_011525645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
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{
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],
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"clinvar_submissions_summary": "null",
"phenotype_combined": "Neural tube defects, susceptibility to",
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}
],
"message": null
}