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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-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=101020074&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 101020074,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001286615.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"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>G",
"hgvs_p": "p.Thr259Ala",
"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": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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>G",
"hgvs_p": "p.Thr259Ala",
"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": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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>G",
"hgvs_p": "p.Thr425Ala",
"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": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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>G",
"hgvs_p": "p.Thr259Ala",
"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": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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>G",
"hgvs_p": "p.Thr224Ala",
"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": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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>G",
"hgvs_p": "p.Thr224Ala",
"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": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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>G",
"hgvs_p": "p.Thr456Ala",
"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": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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>G",
"hgvs_p": "p.Thr456Ala",
"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": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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>G",
"hgvs_p": "p.Thr441Ala",
"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": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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>G",
"hgvs_p": "p.Thr441Ala",
"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": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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>G",
"hgvs_p": "p.Thr421Ala",
"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": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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>G",
"hgvs_p": "p.Thr421Ala",
"transcript": "XM_047428305.1",
"protein_id": "XP_047284261.1",
"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": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1216A>G",
"hgvs_p": "p.Thr406Ala",
"transcript": "XM_047428306.1",
"protein_id": "XP_047284262.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1216,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 4266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1216A>G",
"hgvs_p": "p.Thr406Ala",
"transcript": "XM_047428307.1",
"protein_id": "XP_047284263.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 1102,
"cds_start": 1216,
"cds_end": null,
"cds_length": 3309,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 4270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1189A>G",
"hgvs_p": "p.Thr397Ala",
"transcript": "XM_011537915.3",
"protein_id": "XP_011536217.2",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 1093,
"cds_start": 1189,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 4239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.1189A>G",
"hgvs_p": "p.Thr397Ala",
"transcript": "XM_047428308.1",
"protein_id": "XP_047284264.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 1093,
"cds_start": 1189,
"cds_end": null,
"cds_length": 3282,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 4243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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.925A>G",
"hgvs_p": "p.Thr309Ala",
"transcript": "XM_011537916.3",
"protein_id": "XP_011536218.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 1005,
"cds_start": 925,
"cds_end": null,
"cds_length": 3018,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 3884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.262A>G",
"hgvs_p": "p.Thr88Ala",
"transcript": "XM_024448841.2",
"protein_id": "XP_024304609.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 784,
"cds_start": 262,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 3243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.262A>G",
"hgvs_p": "p.Thr88Ala",
"transcript": "XM_024448842.2",
"protein_id": "XP_024304610.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 784,
"cds_start": 262,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "c.1366A>G",
"hgvs_p": "p.Thr456Ala",
"transcript": "XM_011537918.3",
"protein_id": "XP_011536220.2",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 648,
"cds_start": 1366,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 5729,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "n.*264A>G",
"hgvs_p": null,
"transcript": "ENST00000549155.6",
"protein_id": "ENSP00000449116.2",
"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": 1385,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "n.245A>G",
"hgvs_p": null,
"transcript": "ENST00000549234.1",
"protein_id": null,
"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": 537,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"hgvs_c": "n.*264A>G",
"hgvs_p": null,
"transcript": "ENST00000549155.6",
"protein_id": "ENSP00000449116.2",
"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": 1385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANO4",
"gene_hgnc_id": 23837,
"dbsnp": "rs761645448",
"frequency_reference_population": 0.00001177449,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000109483,
"gnomad_genomes_af": 0.0000197057,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4726140797138214,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.335,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2272,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.741,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001286615.2",
"gene_symbol": "ANO4",
"hgnc_id": 23837,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.775A>G",
"hgvs_p": "p.Thr259Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}