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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: 22-23764802-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=23764802&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 23764802,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001331041.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112His",
"transcript": "NM_182520.3",
"protein_id": "NP_872326.2",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 148,
"cds_start": 335,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000402217.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182520.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112His",
"transcript": "ENST00000402217.8",
"protein_id": "ENSP00000384965.4",
"transcript_support_level": 2,
"aa_start": 112,
"aa_end": null,
"aa_length": 148,
"cds_start": 335,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_182520.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402217.8"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.340+89G>A",
"hgvs_p": null,
"transcript": "ENST00000382821.3",
"protein_id": "ENSP00000372271.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382821.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.350G>A",
"hgvs_p": "p.Arg117His",
"transcript": "ENST00000933353.1",
"protein_id": "ENSP00000603412.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 180,
"cds_start": 350,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933353.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112His",
"transcript": "ENST00000956167.1",
"protein_id": "ENSP00000626226.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 175,
"cds_start": 335,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956167.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.371G>A",
"hgvs_p": "p.Arg124His",
"transcript": "ENST00000933351.1",
"protein_id": "ENSP00000603410.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 160,
"cds_start": 371,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933351.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Ala114Thr",
"transcript": "NM_001331041.2",
"protein_id": "NP_001317970.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 157,
"cds_start": 340,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331041.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Ala114Thr",
"transcript": "ENST00000305199.9",
"protein_id": "ENSP00000305096.5",
"transcript_support_level": 3,
"aa_start": 114,
"aa_end": null,
"aa_length": 157,
"cds_start": 340,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000305199.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.356G>A",
"hgvs_p": "p.Arg119His",
"transcript": "ENST00000877954.1",
"protein_id": "ENSP00000548013.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 155,
"cds_start": 356,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877954.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.350G>A",
"hgvs_p": "p.Arg117His",
"transcript": "ENST00000877953.1",
"protein_id": "ENSP00000548012.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 153,
"cds_start": 350,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877953.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113His",
"transcript": "ENST00000933350.1",
"protein_id": "ENSP00000603409.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 149,
"cds_start": 338,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933350.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.197G>A",
"hgvs_p": "p.Arg66His",
"transcript": "ENST00000933354.1",
"protein_id": "ENSP00000603413.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 102,
"cds_start": 197,
"cds_end": null,
"cds_length": 309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933354.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Ala121Thr",
"transcript": "XM_024452160.2",
"protein_id": "XP_024307928.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 243,
"cds_start": 361,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452160.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Ala114Thr",
"transcript": "XM_024452161.2",
"protein_id": "XP_024307929.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 236,
"cds_start": 340,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452161.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.350G>A",
"hgvs_p": "p.Arg117His",
"transcript": "XM_011529908.3",
"protein_id": "XP_011528210.2",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 210,
"cds_start": 350,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011529908.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112His",
"transcript": "XM_017028612.2",
"protein_id": "XP_016884101.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 205,
"cds_start": 335,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028612.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.356G>A",
"hgvs_p": "p.Arg119His",
"transcript": "XM_047441152.1",
"protein_id": "XP_047297108.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 161,
"cds_start": 356,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441152.1"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.340+89G>A",
"hgvs_p": null,
"transcript": "NM_001376903.1",
"protein_id": "NP_001363832.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376903.1"
},
{
"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": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.340+89G>A",
"hgvs_p": null,
"transcript": "NM_001376904.1",
"protein_id": "NP_001363833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": null,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376904.1"
},
{
"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": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.330+89G>A",
"hgvs_p": null,
"transcript": "NM_001376905.1",
"protein_id": "NP_001363834.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": null,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376905.1"
},
{
"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": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.330+89G>A",
"hgvs_p": null,
"transcript": "ENST00000933352.1",
"protein_id": "ENSP00000603411.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": null,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933352.1"
},
{
"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": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "c.340+89G>A",
"hgvs_p": null,
"transcript": "XM_047441153.1",
"protein_id": "XP_047297109.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 151,
"cds_start": null,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441153.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C22orf15",
"gene_hgnc_id": 15558,
"hgvs_c": "n.962G>A",
"hgvs_p": null,
"transcript": "ENST00000477921.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477921.1"
}
],
"gene_symbol": "C22orf15",
"gene_hgnc_id": 15558,
"dbsnp": "rs200704446",
"frequency_reference_population": 0.0000049564696,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000478883,
"gnomad_genomes_af": 0.00000656521,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04244321584701538,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.07,
"revel_prediction": "Benign",
"alphamissense_score": 0.097,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.076,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001331041.2",
"gene_symbol": "C22orf15",
"hgnc_id": 15558,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.340G>A",
"hgvs_p": "p.Ala114Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}