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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: 20-34076732-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=34076732&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 34076732,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016732.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "NM_016732.3",
"protein_id": "NP_057951.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000246194.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016732.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "ENST00000246194.8",
"protein_id": "ENSP00000246194.3",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016732.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000246194.8"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.527C>T",
"hgvs_p": "p.Thr176Met",
"transcript": "ENST00000375114.7",
"protein_id": "ENSP00000364255.3",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 290,
"cds_start": 527,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375114.7"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "ENST00000874581.1",
"protein_id": "ENSP00000544640.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874581.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "ENST00000874582.1",
"protein_id": "ENSP00000544641.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874582.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "ENST00000874584.1",
"protein_id": "ENSP00000544643.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874584.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "ENST00000874585.1",
"protein_id": "ENSP00000544644.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874585.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "ENST00000874587.1",
"protein_id": "ENSP00000544646.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874587.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "ENST00000874588.1",
"protein_id": "ENSP00000544647.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874588.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "ENST00000874590.1",
"protein_id": "ENSP00000544649.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874590.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "ENST00000874591.1",
"protein_id": "ENSP00000544650.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874591.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "ENST00000874592.1",
"protein_id": "ENSP00000544651.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874592.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "ENST00000874594.1",
"protein_id": "ENSP00000544653.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874594.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "ENST00000874596.1",
"protein_id": "ENSP00000544655.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874596.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "ENST00000874598.1",
"protein_id": "ENSP00000544657.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874598.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "ENST00000874599.1",
"protein_id": "ENSP00000544658.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874599.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "ENST00000874601.1",
"protein_id": "ENSP00000544660.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874601.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "ENST00000874603.1",
"protein_id": "ENSP00000544662.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874603.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "ENST00000935201.1",
"protein_id": "ENSP00000605260.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935201.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "ENST00000935204.1",
"protein_id": "ENSP00000605263.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935204.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "ENST00000935207.1",
"protein_id": "ENSP00000605266.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935207.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALY",
"gene_hgnc_id": 15921,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met",
"transcript": "ENST00000935208.1",
"protein_id": "ENSP00000605267.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 306,
"cds_start": 575,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935208.1"
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"phylop100way_score": 2.489,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_016732.3",
"gene_symbol": "RALY",
"hgnc_id": 15921,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Thr192Met"
}
],
"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
}