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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: 7-99486599-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=99486599&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 99486599,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000331410.10",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.389A>G",
"hgvs_p": "p.His130Arg",
"transcript": "NM_213603.3",
"protein_id": "NP_998768.2",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 425,
"cds_start": 389,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 1616,
"mane_select": "ENST00000331410.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.389A>G",
"hgvs_p": "p.His130Arg",
"transcript": "ENST00000331410.10",
"protein_id": "ENSP00000331927.5",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 425,
"cds_start": 389,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 1616,
"mane_select": "NM_213603.3",
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "n.613A>G",
"hgvs_p": null,
"transcript": "ENST00000481108.1",
"protein_id": null,
"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": 1018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.*172A>G",
"hgvs_p": null,
"transcript": "ENST00000448667.5",
"protein_id": "ENSP00000405206.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": -4,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.His113Arg",
"transcript": "NM_001350999.2",
"protein_id": "NP_001337928.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 408,
"cds_start": 338,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 1538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.275A>G",
"hgvs_p": "p.His92Arg",
"transcript": "NM_001351000.2",
"protein_id": "NP_001337929.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 387,
"cds_start": 275,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 1502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.His35Arg",
"transcript": "NM_001351002.2",
"protein_id": "NP_001337931.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 330,
"cds_start": 104,
"cds_end": null,
"cds_length": 993,
"cdna_start": 771,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.His35Arg",
"transcript": "NM_001351004.2",
"protein_id": "NP_001337933.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 330,
"cds_start": 104,
"cds_end": null,
"cds_length": 993,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 1860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.389A>G",
"hgvs_p": "p.His130Arg",
"transcript": "XM_017012018.2",
"protein_id": "XP_016867507.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 425,
"cds_start": 389,
"cds_end": null,
"cds_length": 1278,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.368A>G",
"hgvs_p": "p.His123Arg",
"transcript": "XM_047420226.1",
"protein_id": "XP_047276182.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 418,
"cds_start": 368,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 2486,
"cdna_end": null,
"cdna_length": 3492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.368A>G",
"hgvs_p": "p.His123Arg",
"transcript": "XM_047420227.1",
"protein_id": "XP_047276183.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 418,
"cds_start": 368,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 2365,
"cdna_end": null,
"cdna_length": 3371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.368A>G",
"hgvs_p": "p.His123Arg",
"transcript": "XM_047420228.1",
"protein_id": "XP_047276184.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 418,
"cds_start": 368,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.His113Arg",
"transcript": "XM_017012022.2",
"protein_id": "XP_016867511.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 408,
"cds_start": 338,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 4584,
"cdna_end": null,
"cdna_length": 5590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.His113Arg",
"transcript": "XM_047420229.1",
"protein_id": "XP_047276185.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 408,
"cds_start": 338,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 6160,
"cdna_end": null,
"cdna_length": 7166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.His35Arg",
"transcript": "XM_024446725.2",
"protein_id": "XP_024302493.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 330,
"cds_start": 104,
"cds_end": null,
"cds_length": 993,
"cdna_start": 7428,
"cdna_end": null,
"cdna_length": 8434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.104A>G",
"hgvs_p": "p.His35Arg",
"transcript": "XM_047420230.1",
"protein_id": "XP_047276186.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 330,
"cds_start": 104,
"cds_end": null,
"cds_length": 993,
"cdna_start": 7561,
"cdna_end": null,
"cdna_length": 8567,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "n.*315A>G",
"hgvs_p": null,
"transcript": "ENST00000447047.6",
"protein_id": "ENSP00000401255.2",
"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": 842,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF394",
"gene_hgnc_id": 18832,
"hgvs_c": "n.448T>C",
"hgvs_p": null,
"transcript": "ENST00000462024.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 528,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF394",
"gene_hgnc_id": 18832,
"hgvs_c": "n.1088T>C",
"hgvs_p": null,
"transcript": "ENST00000651364.1",
"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": 5731,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF394",
"gene_hgnc_id": 18832,
"hgvs_c": "c.*342T>C",
"hgvs_p": null,
"transcript": "NM_001345968.2",
"protein_id": "NP_001332897.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 201,
"cds_start": -4,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1216,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "n.*315A>G",
"hgvs_p": null,
"transcript": "ENST00000447047.6",
"protein_id": "ENSP00000401255.2",
"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": 842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "c.130+6812A>G",
"hgvs_p": null,
"transcript": "ENST00000493485.5",
"protein_id": "ENSP00000419500.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": -4,
"cds_end": null,
"cds_length": 171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"hgvs_c": "n.114+2456A>G",
"hgvs_p": null,
"transcript": "ENST00000494186.1",
"protein_id": null,
"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": 411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF789",
"gene_hgnc_id": 27801,
"dbsnp": "rs369068130",
"frequency_reference_population": 0.00004708098,
"hom_count_reference_population": 0,
"allele_count_reference_population": 76,
"gnomad_exomes_af": 0.000045831,
"gnomad_genomes_af": 0.0000590753,
"gnomad_exomes_ac": 67,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03398296236991882,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.0677,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.195,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000331410.10",
"gene_symbol": "ZNF789",
"hgnc_id": 27801,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.389A>G",
"hgvs_p": "p.His130Arg"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000462024.1",
"gene_symbol": "ZNF394",
"hgnc_id": 18832,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.448T>C",
"hgvs_p": null
}
],
"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
}