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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: 12-101020074-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=101020074&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 101020074,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001286615.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.775A>T",
"hgvs_p": "p.Thr259Ser",
"transcript": "NM_001286615.2",
"protein_id": "NP_001273544.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 955,
"cds_start": 775,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 4033,
"mane_select": "ENST00000392977.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286615.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.775A>T",
"hgvs_p": "p.Thr259Ser",
"transcript": "ENST00000392977.8",
"protein_id": "ENSP00000376703.3",
"transcript_support_level": 2,
"aa_start": 259,
"aa_end": null,
"aa_length": 955,
"cds_start": 775,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 4033,
"mane_select": "NM_001286615.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392977.8"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.1273A>T",
"hgvs_p": "p.Thr425Ser",
"transcript": "ENST00000644049.1",
"protein_id": "ENSP00000494481.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 1121,
"cds_start": 1273,
"cds_end": null,
"cds_length": 3366,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 3797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644049.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.775A>T",
"hgvs_p": "p.Thr259Ser",
"transcript": "NM_001286616.1",
"protein_id": "NP_001273545.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 955,
"cds_start": 775,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 3797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286616.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.775A>T",
"hgvs_p": "p.Thr259Ser",
"transcript": "ENST00000852684.1",
"protein_id": "ENSP00000522743.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 955,
"cds_start": 775,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 3978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852684.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.775A>T",
"hgvs_p": "p.Thr259Ser",
"transcript": "ENST00000852685.1",
"protein_id": "ENSP00000522744.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 955,
"cds_start": 775,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 990,
"cdna_end": null,
"cdna_length": 3853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852685.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.730A>T",
"hgvs_p": "p.Thr244Ser",
"transcript": "ENST00000852682.1",
"protein_id": "ENSP00000522741.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 940,
"cds_start": 730,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852682.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.730A>T",
"hgvs_p": "p.Thr244Ser",
"transcript": "ENST00000922750.1",
"protein_id": "ENSP00000592809.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 940,
"cds_start": 730,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 4388,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922750.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.670A>T",
"hgvs_p": "p.Thr224Ser",
"transcript": "NM_178826.4",
"protein_id": "NP_849148.2",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 920,
"cds_start": 670,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 3928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178826.4"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.670A>T",
"hgvs_p": "p.Thr224Ser",
"transcript": "ENST00000392979.7",
"protein_id": "ENSP00000376705.3",
"transcript_support_level": 2,
"aa_start": 224,
"aa_end": null,
"aa_length": 920,
"cds_start": 670,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392979.7"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.670A>T",
"hgvs_p": "p.Thr224Ser",
"transcript": "ENST00000852681.1",
"protein_id": "ENSP00000522740.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 920,
"cds_start": 670,
"cds_end": null,
"cds_length": 2763,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852681.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.625A>T",
"hgvs_p": "p.Thr209Ser",
"transcript": "ENST00000852680.1",
"protein_id": "ENSP00000522739.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 905,
"cds_start": 625,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 4198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852680.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.625A>T",
"hgvs_p": "p.Thr209Ser",
"transcript": "ENST00000852683.1",
"protein_id": "ENSP00000522742.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 905,
"cds_start": 625,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 4046,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852683.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.625A>T",
"hgvs_p": "p.Thr209Ser",
"transcript": "ENST00000922751.1",
"protein_id": "ENSP00000592810.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 905,
"cds_start": 625,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 1391,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922751.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.625A>T",
"hgvs_p": "p.Thr209Ser",
"transcript": "ENST00000956090.1",
"protein_id": "ENSP00000626150.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 905,
"cds_start": 625,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 4097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956090.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.730A>T",
"hgvs_p": "p.Thr244Ser",
"transcript": "ENST00000956092.1",
"protein_id": "ENSP00000626151.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 822,
"cds_start": 730,
"cds_end": null,
"cds_length": 2469,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956092.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.1366A>T",
"hgvs_p": "p.Thr456Ser",
"transcript": "XM_011537911.3",
"protein_id": "XP_011536213.2",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 1152,
"cds_start": 1366,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 4416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537911.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.1366A>T",
"hgvs_p": "p.Thr456Ser",
"transcript": "XM_011537912.3",
"protein_id": "XP_011536214.2",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 1152,
"cds_start": 1366,
"cds_end": null,
"cds_length": 3459,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 4420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537912.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.1321A>T",
"hgvs_p": "p.Thr441Ser",
"transcript": "XM_011537913.3",
"protein_id": "XP_011536215.2",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 1137,
"cds_start": 1321,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 4371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537913.3"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.1321A>T",
"hgvs_p": "p.Thr441Ser",
"transcript": "XM_047428302.1",
"protein_id": "XP_047284258.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 1137,
"cds_start": 1321,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 4375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428302.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.1261A>T",
"hgvs_p": "p.Thr421Ser",
"transcript": "XM_047428303.1",
"protein_id": "XP_047284259.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1117,
"cds_start": 1261,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 4311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428303.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.1261A>T",
"hgvs_p": "p.Thr421Ser",
"transcript": "XM_047428305.1",
"protein_id": "XP_047284261.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 1117,
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}