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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: 13-26215274-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=26215274&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RNF6",
"hgnc_id": 10069,
"hgvs_c": "c.608T>A",
"hgvs_p": "p.Val203Glu",
"inheritance_mode": "Unknown",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_005977.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_score": -12,
"allele_count_reference_population": 10075,
"alphamissense_prediction": null,
"alphamissense_score": 0.1008,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0026439428329467773,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3520,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 2058,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_005977.4",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "c.608T>A",
"hgvs_p": "p.Val203Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000381588.9",
"protein_coding": true,
"protein_id": "NP_005968.1",
"strand": false,
"transcript": "NM_005977.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3520,
"cdna_start": 1021,
"cds_end": null,
"cds_length": 2058,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000381588.9",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "c.608T>A",
"hgvs_p": "p.Val203Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005977.4",
"protein_coding": true,
"protein_id": "ENSP00000371000.4",
"strand": false,
"transcript": "ENST00000381588.9",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3282,
"cdna_start": 770,
"cds_end": null,
"cds_length": 2058,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000346166.7",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "c.608T>A",
"hgvs_p": "p.Val203Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342121.3",
"strand": false,
"transcript": "ENST00000346166.7",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3398,
"cdna_start": 899,
"cds_end": null,
"cds_length": 2058,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000381570.7",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "c.608T>A",
"hgvs_p": "p.Val203Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370982.3",
"strand": false,
"transcript": "ENST00000381570.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1105,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000468480.5",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "n.768+200T>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000468480.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 1242,
"cds_end": null,
"cds_length": 2058,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_183043.3",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "c.608T>A",
"hgvs_p": "p.Val203Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_898864.1",
"strand": false,
"transcript": "NM_183043.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3537,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 2058,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_183044.3",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "c.608T>A",
"hgvs_p": "p.Val203Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_898865.1",
"strand": false,
"transcript": "NM_183044.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3672,
"cdna_start": 1163,
"cds_end": null,
"cds_length": 2058,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000902197.1",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "c.608T>A",
"hgvs_p": "p.Val203Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572256.1",
"strand": false,
"transcript": "ENST00000902197.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3711,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 2058,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000902198.1",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "c.608T>A",
"hgvs_p": "p.Val203Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572257.1",
"strand": false,
"transcript": "ENST00000902198.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3411,
"cdna_start": 907,
"cds_end": null,
"cds_length": 2058,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000902201.1",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "c.608T>A",
"hgvs_p": "p.Val203Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572260.1",
"strand": false,
"transcript": "ENST00000902201.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3228,
"cdna_start": 747,
"cds_end": null,
"cds_length": 2058,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000902204.1",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "c.608T>A",
"hgvs_p": "p.Val203Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572263.1",
"strand": false,
"transcript": "ENST00000902204.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3270,
"cdna_start": 762,
"cds_end": null,
"cds_length": 2058,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000902205.1",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "c.608T>A",
"hgvs_p": "p.Val203Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572264.1",
"strand": false,
"transcript": "ENST00000902205.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3737,
"cdna_start": 1223,
"cds_end": null,
"cds_length": 2058,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000902206.1",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "c.608T>A",
"hgvs_p": "p.Val203Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572265.1",
"strand": false,
"transcript": "ENST00000902206.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3359,
"cdna_start": 860,
"cds_end": null,
"cds_length": 2058,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911857.1",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "c.608T>A",
"hgvs_p": "p.Val203Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581916.1",
"strand": false,
"transcript": "ENST00000911857.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": 816,
"cds_end": null,
"cds_length": 2058,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911859.1",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "c.608T>A",
"hgvs_p": "p.Val203Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581918.1",
"strand": false,
"transcript": "ENST00000911859.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3666,
"cdna_start": 1148,
"cds_end": null,
"cds_length": 2058,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000945715.1",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "c.608T>A",
"hgvs_p": "p.Val203Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615774.1",
"strand": false,
"transcript": "ENST00000945715.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4190,
"cdna_start": 1694,
"cds_end": null,
"cds_length": 2058,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000945716.1",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "c.608T>A",
"hgvs_p": "p.Val203Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615775.1",
"strand": false,
"transcript": "ENST00000945716.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
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"aa_length": 685,
"aa_ref": "V",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3613,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 2058,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000945717.1",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "c.608T>A",
"hgvs_p": "p.Val203Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615776.1",
"strand": false,
"transcript": "ENST00000945717.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3366,
"cdna_start": 875,
"cds_end": null,
"cds_length": 2058,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000945718.1",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "c.608T>A",
"hgvs_p": "p.Val203Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615777.1",
"strand": false,
"transcript": "ENST00000945718.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3446,
"cdna_start": 955,
"cds_end": null,
"cds_length": 2058,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000945721.1",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "c.608T>A",
"hgvs_p": "p.Val203Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615780.1",
"strand": false,
"transcript": "ENST00000945721.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 684,
"aa_ref": "V",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3516,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 2055,
"cds_start": 605,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000902199.1",
"gene_hgnc_id": 10069,
"gene_symbol": "RNF6",
"hgvs_c": "c.605T>A",
"hgvs_p": "p.Val202Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572258.1",
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