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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: 6-28125642-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=28125642&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 28125642,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_025231.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16",
"gene_hgnc_id": 20813,
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67Cys",
"transcript": "NM_025231.3",
"protein_id": "NP_079507.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 348,
"cds_start": 199,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340487.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025231.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16",
"gene_hgnc_id": 20813,
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67Cys",
"transcript": "ENST00000340487.5",
"protein_id": "ENSP00000366527.3",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 348,
"cds_start": 199,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025231.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340487.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16-AS1",
"gene_hgnc_id": 48982,
"hgvs_c": "n.574-2431G>A",
"hgvs_p": null,
"transcript": "ENST00000602810.3",
"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": "pseudogene",
"feature": "ENST00000602810.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16",
"gene_hgnc_id": 20813,
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67Cys",
"transcript": "NM_001320555.2",
"protein_id": "NP_001307484.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 348,
"cds_start": 199,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320555.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16",
"gene_hgnc_id": 20813,
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67Cys",
"transcript": "ENST00000685330.1",
"protein_id": "ENSP00000510203.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 348,
"cds_start": 199,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685330.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16",
"gene_hgnc_id": 20813,
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67Cys",
"transcript": "ENST00000854769.1",
"protein_id": "ENSP00000524828.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 348,
"cds_start": 199,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854769.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16",
"gene_hgnc_id": 20813,
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67Cys",
"transcript": "ENST00000928538.1",
"protein_id": "ENSP00000598597.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 348,
"cds_start": 199,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928538.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16",
"gene_hgnc_id": 20813,
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67Cys",
"transcript": "ENST00000928539.1",
"protein_id": "ENSP00000598598.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 348,
"cds_start": 199,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928539.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16",
"gene_hgnc_id": 20813,
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67Cys",
"transcript": "ENST00000928540.1",
"protein_id": "ENSP00000598599.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 348,
"cds_start": 199,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928540.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16",
"gene_hgnc_id": 20813,
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67Cys",
"transcript": "ENST00000942452.1",
"protein_id": "ENSP00000612511.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 348,
"cds_start": 199,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942452.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16",
"gene_hgnc_id": 20813,
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67Cys",
"transcript": "NM_001320556.2",
"protein_id": "NP_001307485.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 319,
"cds_start": 199,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320556.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16",
"gene_hgnc_id": 20813,
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67Cys",
"transcript": "ENST00000854770.1",
"protein_id": "ENSP00000524829.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 319,
"cds_start": 199,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854770.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16",
"gene_hgnc_id": 20813,
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67Cys",
"transcript": "NM_001320557.2",
"protein_id": "NP_001307486.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 195,
"cds_start": 199,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320557.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16",
"gene_hgnc_id": 20813,
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67Cys",
"transcript": "NM_001320558.2",
"protein_id": "NP_001307487.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 181,
"cds_start": 199,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320558.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16",
"gene_hgnc_id": 20813,
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67Cys",
"transcript": "XM_017011324.2",
"protein_id": "XP_016866813.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 348,
"cds_start": 199,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011324.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16",
"gene_hgnc_id": 20813,
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67Cys",
"transcript": "XM_047419378.1",
"protein_id": "XP_047275334.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 195,
"cds_start": 199,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419378.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16",
"gene_hgnc_id": 20813,
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67Cys",
"transcript": "XM_047419379.1",
"protein_id": "XP_047275335.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 195,
"cds_start": 199,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419379.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16-AS1",
"gene_hgnc_id": 48982,
"hgvs_c": "n.727G>A",
"hgvs_p": null,
"transcript": "ENST00000600652.1",
"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": "pseudogene",
"feature": "ENST00000600652.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16-AS1",
"gene_hgnc_id": 48982,
"hgvs_c": "n.278G>A",
"hgvs_p": null,
"transcript": "ENST00000733333.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000733333.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16-AS1",
"gene_hgnc_id": 48982,
"hgvs_c": "n.278G>A",
"hgvs_p": null,
"transcript": "ENST00000733349.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000733349.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16-AS1",
"gene_hgnc_id": 48982,
"hgvs_c": "n.278G>A",
"hgvs_p": null,
"transcript": "ENST00000733350.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000733350.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZSCAN16-AS1",
"gene_hgnc_id": 48982,
"hgvs_c": "n.269G>A",
"hgvs_p": null,
"transcript": "ENST00000733352.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000733352.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_025231.3",
"gene_symbol": "ZSCAN16",
"hgnc_id": 20813,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67Cys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000600652.1",
"gene_symbol": "ZSCAN16-AS1",
"hgnc_id": 48982,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.727G>A",
"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
}