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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: 15-89116349-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89116349&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 89116349,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007011.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "NM_152924.5",
"protein_id": "NP_690888.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000352732.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152924.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "ENST00000352732.10",
"protein_id": "ENSP00000268129.5",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152924.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352732.10"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "NM_001416412.1",
"protein_id": "NP_001403341.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416412.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "NM_001416413.1",
"protein_id": "NP_001403342.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416413.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "NM_001416414.1",
"protein_id": "NP_001403343.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416414.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "NM_001416415.1",
"protein_id": "NP_001403344.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416415.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "NM_001416416.1",
"protein_id": "NP_001403345.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416416.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "NM_001416417.1",
"protein_id": "NP_001403346.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416417.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "NM_001416418.1",
"protein_id": "NP_001403347.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416418.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "NM_001416419.1",
"protein_id": "NP_001403348.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416419.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "NM_001416422.1",
"protein_id": "NP_001403351.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416422.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "NM_001416423.1",
"protein_id": "NP_001403352.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416423.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "NM_001416424.1",
"protein_id": "NP_001403353.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001416424.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "NM_007011.8",
"protein_id": "NP_008942.3",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007011.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "ENST00000565973.5",
"protein_id": "ENSP00000455639.1",
"transcript_support_level": 5,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565973.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "ENST00000864961.1",
"protein_id": "ENSP00000535020.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864961.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "ENST00000864962.1",
"protein_id": "ENSP00000535021.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864962.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "ENST00000864963.1",
"protein_id": "ENSP00000535022.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864963.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "ENST00000864964.1",
"protein_id": "ENSP00000535023.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864964.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "ENST00000864965.1",
"protein_id": "ENSP00000535024.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864965.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "ENST00000864966.1",
"protein_id": "ENSP00000535025.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864966.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD2",
"gene_hgnc_id": 18717,
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser",
"transcript": "ENST00000864967.1",
"protein_id": "ENSP00000535026.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 425,
"cds_start": 22,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864967.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
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"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": 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_007011.8",
"gene_symbol": "ABHD2",
"hgnc_id": 18717,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Pro8Ser"
}
],
"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
}