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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: 1-160237145-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=160237145&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 160237145,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015726.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "NM_015726.4",
"protein_id": "NP_056541.2",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 597,
"cds_start": 949,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368074.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015726.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000368074.6",
"protein_id": "ENSP00000357053.1",
"transcript_support_level": 5,
"aa_start": 317,
"aa_end": null,
"aa_length": 597,
"cds_start": 949,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015726.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368074.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000368073.7",
"protein_id": "ENSP00000357052.3",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 597,
"cds_start": 949,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368073.7"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000961183.1",
"protein_id": "ENSP00000631242.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 611,
"cds_start": 949,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961183.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000870543.1",
"protein_id": "ENSP00000540602.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 610,
"cds_start": 949,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870543.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000961165.1",
"protein_id": "ENSP00000631224.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 610,
"cds_start": 949,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961165.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000961172.1",
"protein_id": "ENSP00000631231.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 601,
"cds_start": 949,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961172.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000326837.6",
"protein_id": "ENSP00000318227.2",
"transcript_support_level": 5,
"aa_start": 317,
"aa_end": null,
"aa_length": 597,
"cds_start": 949,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326837.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000870521.1",
"protein_id": "ENSP00000540580.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 597,
"cds_start": 949,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870521.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000870522.1",
"protein_id": "ENSP00000540581.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 597,
"cds_start": 949,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870522.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000870523.1",
"protein_id": "ENSP00000540582.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 597,
"cds_start": 949,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870523.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000870524.1",
"protein_id": "ENSP00000540583.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 597,
"cds_start": 949,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870524.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000870525.1",
"protein_id": "ENSP00000540584.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 597,
"cds_start": 949,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870525.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000870526.1",
"protein_id": "ENSP00000540585.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 597,
"cds_start": 949,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870526.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000870527.1",
"protein_id": "ENSP00000540586.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 597,
"cds_start": 949,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870527.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000870528.1",
"protein_id": "ENSP00000540587.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 597,
"cds_start": 949,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870528.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000870529.1",
"protein_id": "ENSP00000540588.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 597,
"cds_start": 949,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870529.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000870530.1",
"protein_id": "ENSP00000540589.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 597,
"cds_start": 949,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870530.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000870531.1",
"protein_id": "ENSP00000540590.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 597,
"cds_start": 949,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870531.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000870533.1",
"protein_id": "ENSP00000540592.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 597,
"cds_start": 949,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870533.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000870535.1",
"protein_id": "ENSP00000540594.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 597,
"cds_start": 949,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870535.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCAF8",
"gene_hgnc_id": 24891,
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser",
"transcript": "ENST00000870536.1",
"protein_id": "ENSP00000540595.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 597,
"cds_start": 949,
"cds_end": null,
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"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5,BP4",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 1,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM5",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015726.4",
"gene_symbol": "DCAF8",
"hgnc_id": 24891,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.949C>A",
"hgvs_p": "p.Arg317Ser"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000556710.6",
"gene_symbol": "ENSG00000258465",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1533C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}