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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: 19-42294851-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=42294851&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CIC",
"hgnc_id": 14214,
"hgvs_c": "c.7214G>A",
"hgvs_p": "p.Arg2405His",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001304815.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 27,
"alphamissense_prediction": null,
"alphamissense_score": 0.5725,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "19",
"clinvar_classification": "not provided",
"clinvar_disease": "not specified",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.24294152855873108,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2517,
"aa_ref": "R",
"aa_start": 2405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8299,
"cdna_start": 7354,
"cds_end": null,
"cds_length": 7554,
"cds_start": 7214,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001386298.1",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
"hgvs_c": "c.7214G>A",
"hgvs_p": "p.Arg2405His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000681038.1",
"protein_coding": true,
"protein_id": "NP_001373227.1",
"strand": true,
"transcript": "NM_001386298.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2517,
"aa_ref": "R",
"aa_start": 2405,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8299,
"cdna_start": 7354,
"cds_end": null,
"cds_length": 7554,
"cds_start": 7214,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000681038.1",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
"hgvs_c": "c.7214G>A",
"hgvs_p": "p.Arg2405His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001386298.1",
"protein_coding": true,
"protein_id": "ENSP00000505728.1",
"strand": true,
"transcript": "ENST00000681038.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1608,
"aa_ref": "R",
"aa_start": 1496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5473,
"cdna_start": 4527,
"cds_end": null,
"cds_length": 4827,
"cds_start": 4487,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000575354.6",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
"hgvs_c": "c.4487G>A",
"hgvs_p": "p.Arg1496His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458663.2",
"strand": true,
"transcript": "ENST00000575354.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2517,
"aa_ref": "R",
"aa_start": 2405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8234,
"cdna_start": 7289,
"cds_end": null,
"cds_length": 7554,
"cds_start": 7214,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001304815.2",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
"hgvs_c": "c.7214G>A",
"hgvs_p": "p.Arg2405His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291744.1",
"strand": true,
"transcript": "NM_001304815.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2516,
"aa_ref": "R",
"aa_start": 2404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8296,
"cdna_start": 7351,
"cds_end": null,
"cds_length": 7551,
"cds_start": 7211,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001379480.1",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
"hgvs_c": "c.7211G>A",
"hgvs_p": "p.Arg2404His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366409.1",
"strand": true,
"transcript": "NM_001379480.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2516,
"aa_ref": "R",
"aa_start": 2404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8296,
"cdna_start": 7351,
"cds_end": null,
"cds_length": 7551,
"cds_start": 7211,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001379482.1",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
"hgvs_c": "c.7211G>A",
"hgvs_p": "p.Arg2404His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366411.1",
"strand": true,
"transcript": "NM_001379482.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2516,
"aa_ref": "R",
"aa_start": 2404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8231,
"cdna_start": 7286,
"cds_end": null,
"cds_length": 7551,
"cds_start": 7211,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001439183.1",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
"hgvs_c": "c.7211G>A",
"hgvs_p": "p.Arg2404His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426112.1",
"strand": true,
"transcript": "NM_001439183.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2516,
"aa_ref": "R",
"aa_start": 2404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8301,
"cdna_start": 7351,
"cds_end": null,
"cds_length": 7551,
"cds_start": 7211,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000940332.1",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
"hgvs_c": "c.7211G>A",
"hgvs_p": "p.Arg2404His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610391.1",
"strand": true,
"transcript": "ENST00000940332.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2515,
"aa_ref": "R",
"aa_start": 2403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8293,
"cdna_start": 7348,
"cds_end": null,
"cds_length": 7548,
"cds_start": 7208,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001439184.1",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
"hgvs_c": "c.7208G>A",
"hgvs_p": "p.Arg2403His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426113.1",
"strand": true,
"transcript": "NM_001439184.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2515,
"aa_ref": "R",
"aa_start": 2403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8228,
"cdna_start": 7283,
"cds_end": null,
"cds_length": 7548,
"cds_start": 7208,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001439185.1",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
"hgvs_c": "c.7208G>A",
"hgvs_p": "p.Arg2403His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426114.1",
"strand": true,
"transcript": "NM_001439185.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2515,
"aa_ref": "R",
"aa_start": 2403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8228,
"cdna_start": 7283,
"cds_end": null,
"cds_length": 7548,
"cds_start": 7208,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001439186.1",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
"hgvs_c": "c.7208G>A",
"hgvs_p": "p.Arg2403His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426115.1",
"strand": true,
"transcript": "NM_001439186.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2515,
"aa_ref": "R",
"aa_start": 2403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8165,
"cdna_start": 7218,
"cds_end": null,
"cds_length": 7548,
"cds_start": 7208,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000868566.1",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
"hgvs_c": "c.7208G>A",
"hgvs_p": "p.Arg2403His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538625.1",
"strand": true,
"transcript": "ENST00000868566.1",
"transcript_support_level": null
},
{
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"aa_length": 2515,
"aa_ref": "R",
"aa_start": 2403,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8279,
"cdna_start": 7332,
"cds_end": null,
"cds_length": 7548,
"cds_start": 7208,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000940333.1",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
"hgvs_c": "c.7208G>A",
"hgvs_p": "p.Arg2403His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610392.1",
"strand": true,
"transcript": "ENST00000940333.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2514,
"aa_ref": "R",
"aa_start": 2402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8225,
"cdna_start": 7280,
"cds_end": null,
"cds_length": 7545,
"cds_start": 7205,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001439187.1",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
"hgvs_c": "c.7205G>A",
"hgvs_p": "p.Arg2402His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426116.1",
"strand": true,
"transcript": "NM_001439187.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2514,
"aa_ref": "R",
"aa_start": 2402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8218,
"cdna_start": 7273,
"cds_end": null,
"cds_length": 7545,
"cds_start": 7205,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000572681.6",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
"hgvs_c": "c.7205G>A",
"hgvs_p": "p.Arg2402His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459719.1",
"strand": true,
"transcript": "ENST00000572681.6",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 2513,
"aa_ref": "R",
"aa_start": 2401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8222,
"cdna_start": 7277,
"cds_end": null,
"cds_length": 7542,
"cds_start": 7202,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001439188.1",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
"hgvs_c": "c.7202G>A",
"hgvs_p": "p.Arg2401His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426117.1",
"strand": true,
"transcript": "NM_001439188.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1608,
"aa_ref": "R",
"aa_start": 1496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5668,
"cdna_start": 4723,
"cds_end": null,
"cds_length": 4827,
"cds_start": 4487,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_015125.5",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
"hgvs_c": "c.4487G>A",
"hgvs_p": "p.Arg1496His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055940.3",
"strand": true,
"transcript": "NM_015125.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 1607,
"aa_ref": "R",
"aa_start": 1495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5665,
"cdna_start": 4720,
"cds_end": null,
"cds_length": 4824,
"cds_start": 4484,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001439189.1",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
"hgvs_c": "c.4484G>A",
"hgvs_p": "p.Arg1495His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426118.1",
"strand": true,
"transcript": "NM_001439189.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1607,
"aa_ref": "R",
"aa_start": 1495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5665,
"cdna_start": 4720,
"cds_end": null,
"cds_length": 4824,
"cds_start": 4484,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001439190.1",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
"hgvs_c": "c.4484G>A",
"hgvs_p": "p.Arg1495His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426119.1",
"strand": true,
"transcript": "NM_001439190.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1606,
"aa_ref": "R",
"aa_start": 1494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5662,
"cdna_start": 4717,
"cds_end": null,
"cds_length": 4821,
"cds_start": 4481,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001379484.1",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
"hgvs_c": "c.4481G>A",
"hgvs_p": "p.Arg1494His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366413.1",
"strand": true,
"transcript": "NM_001379484.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1606,
"aa_ref": "R",
"aa_start": 1494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5662,
"cdna_start": 4717,
"cds_end": null,
"cds_length": 4821,
"cds_start": 4481,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001439191.1",
"gene_hgnc_id": 14214,
"gene_symbol": "CIC",
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