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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: 19-58085014-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=58085014&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 58085014,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001145542.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.1204G>C",
"hgvs_p": "p.Ala402Pro",
"transcript": "NM_001145543.2",
"protein_id": "NP_001139015.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 510,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000601144.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145543.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.1204G>C",
"hgvs_p": "p.Ala402Pro",
"transcript": "ENST00000601144.6",
"protein_id": "ENSP00000468934.1",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 510,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001145543.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601144.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.1204G>C",
"hgvs_p": "p.Ala402Pro",
"transcript": "ENST00000240727.10",
"protein_id": "ENSP00000240727.5",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 510,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000240727.10"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.895G>C",
"hgvs_p": "p.Ala299Pro",
"transcript": "ENST00000433686.6",
"protein_id": "ENSP00000412253.2",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 407,
"cds_start": 895,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433686.6"
},
{
"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": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "n.4558G>C",
"hgvs_p": null,
"transcript": "ENST00000598497.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000598497.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"transcript": "NM_001145542.1",
"protein_id": "NP_001139014.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 566,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145542.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"transcript": "ENST00000600404.1",
"protein_id": "ENSP00000470123.1",
"transcript_support_level": 2,
"aa_start": 458,
"aa_end": null,
"aa_length": 566,
"cds_start": 1372,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600404.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.1243G>C",
"hgvs_p": "p.Ala415Pro",
"transcript": "ENST00000861640.1",
"protein_id": "ENSP00000531699.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 523,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861640.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.1240G>C",
"hgvs_p": "p.Ala414Pro",
"transcript": "ENST00000932259.1",
"protein_id": "ENSP00000602318.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 522,
"cds_start": 1240,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932259.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.1204G>C",
"hgvs_p": "p.Ala402Pro",
"transcript": "NM_023926.5",
"protein_id": "NP_076415.3",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 510,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023926.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.1204G>C",
"hgvs_p": "p.Ala402Pro",
"transcript": "ENST00000861637.1",
"protein_id": "ENSP00000531696.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 510,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861637.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.1204G>C",
"hgvs_p": "p.Ala402Pro",
"transcript": "ENST00000861639.1",
"protein_id": "ENSP00000531698.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 510,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861639.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.1204G>C",
"hgvs_p": "p.Ala402Pro",
"transcript": "ENST00000861642.1",
"protein_id": "ENSP00000531701.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 510,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861642.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.1204G>C",
"hgvs_p": "p.Ala402Pro",
"transcript": "ENST00000861643.1",
"protein_id": "ENSP00000531702.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 510,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861643.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.1204G>C",
"hgvs_p": "p.Ala402Pro",
"transcript": "ENST00000861645.1",
"protein_id": "ENSP00000531704.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 510,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861645.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.1204G>C",
"hgvs_p": "p.Ala402Pro",
"transcript": "ENST00000861646.1",
"protein_id": "ENSP00000531705.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 510,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861646.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.1204G>C",
"hgvs_p": "p.Ala402Pro",
"transcript": "ENST00000861647.1",
"protein_id": "ENSP00000531706.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 510,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861647.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.1204G>C",
"hgvs_p": "p.Ala402Pro",
"transcript": "ENST00000861648.1",
"protein_id": "ENSP00000531707.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 510,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861648.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.1204G>C",
"hgvs_p": "p.Ala402Pro",
"transcript": "ENST00000861649.1",
"protein_id": "ENSP00000531708.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 510,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861649.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.1204G>C",
"hgvs_p": "p.Ala402Pro",
"transcript": "ENST00000861650.1",
"protein_id": "ENSP00000531709.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 510,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861650.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.1204G>C",
"hgvs_p": "p.Ala402Pro",
"transcript": "ENST00000861651.1",
"protein_id": "ENSP00000531710.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 510,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861651.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN18",
"gene_hgnc_id": 21037,
"hgvs_c": "c.1204G>C",
"hgvs_p": "p.Ala402Pro",
"transcript": "ENST00000861652.1",
"protein_id": "ENSP00000531711.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 510,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}