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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: 16-53156790-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=53156790&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 53156790,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001308319.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "NM_001308319.2",
"protein_id": "NP_001295248.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 2897,
"cds_start": 701,
"cds_end": null,
"cds_length": 8694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000447540.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308319.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "ENST00000447540.6",
"protein_id": "ENSP00000396345.2",
"transcript_support_level": 5,
"aa_start": 234,
"aa_end": null,
"aa_length": 2897,
"cds_start": 701,
"cds_end": null,
"cds_length": 8694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001308319.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447540.6"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "ENST00000398510.7",
"protein_id": "ENSP00000381522.3",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 2897,
"cds_start": 701,
"cds_end": null,
"cds_length": 8694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398510.7"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "ENST00000564845.5",
"protein_id": "ENSP00000455307.1",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 2881,
"cds_start": 701,
"cds_end": null,
"cds_length": 8646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564845.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "ENST00000566029.5",
"protein_id": "ENSP00000457466.1",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 2881,
"cds_start": 701,
"cds_end": null,
"cds_length": 8646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566029.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"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": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "ENST00000565832.5",
"protein_id": "ENSP00000456793.1",
"transcript_support_level": 1,
"aa_start": 234,
"aa_end": null,
"aa_length": 631,
"cds_start": 701,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565832.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "NM_001382353.1",
"protein_id": "NP_001369282.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 2897,
"cds_start": 701,
"cds_end": null,
"cds_length": 8694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382353.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "NM_001352127.3",
"protein_id": "NP_001339056.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 2881,
"cds_start": 701,
"cds_end": null,
"cds_length": 8646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352127.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "NM_025134.7",
"protein_id": "NP_079410.4",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 2881,
"cds_start": 701,
"cds_end": null,
"cds_length": 8646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025134.7"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "XM_005256168.5",
"protein_id": "XP_005256225.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 2898,
"cds_start": 701,
"cds_end": null,
"cds_length": 8697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256168.5"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "XM_006721281.3",
"protein_id": "XP_006721344.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 2898,
"cds_start": 701,
"cds_end": null,
"cds_length": 8697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721281.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "XM_006721283.4",
"protein_id": "XP_006721346.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 2898,
"cds_start": 701,
"cds_end": null,
"cds_length": 8697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006721283.4"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "XM_011523347.3",
"protein_id": "XP_011521649.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 2898,
"cds_start": 701,
"cds_end": null,
"cds_length": 8697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523347.3"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "XM_017023719.2",
"protein_id": "XP_016879208.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 2898,
"cds_start": 701,
"cds_end": null,
"cds_length": 8697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023719.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "XM_017023720.2",
"protein_id": "XP_016879209.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 2898,
"cds_start": 701,
"cds_end": null,
"cds_length": 8697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023720.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "XM_024450459.2",
"protein_id": "XP_024306227.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 2898,
"cds_start": 701,
"cds_end": null,
"cds_length": 8697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450459.2"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "XM_047434687.1",
"protein_id": "XP_047290643.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 2898,
"cds_start": 701,
"cds_end": null,
"cds_length": 8697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434687.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "XM_047434688.1",
"protein_id": "XP_047290644.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 2898,
"cds_start": 701,
"cds_end": null,
"cds_length": 8697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434688.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "XM_047434689.1",
"protein_id": "XP_047290645.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 2898,
"cds_start": 701,
"cds_end": null,
"cds_length": 8697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434689.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "XM_047434690.1",
"protein_id": "XP_047290646.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 2898,
"cds_start": 701,
"cds_end": null,
"cds_length": 8697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434690.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "XM_047434691.1",
"protein_id": "XP_047290647.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 2898,
"cds_start": 701,
"cds_end": null,
"cds_length": 8697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434691.1"
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg",
"transcript": "XM_047434692.1",
"protein_id": "XP_047290648.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 2898,
"cds_start": 701,
"cds_end": null,
"cds_length": 8697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"phylop100way_score": 2.163,
"phylop100way_prediction": "Benign",
"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_001308319.2",
"gene_symbol": "CHD9",
"hgnc_id": 25701,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.701C>G",
"hgvs_p": "p.Thr234Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}