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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: 2-202952631-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=202952631&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CARF",
"hgnc_id": 14435,
"hgvs_c": "c.379C>G",
"hgvs_p": "p.Gln127Glu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_024744.17",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "WDR12",
"hgnc_id": 14098,
"hgvs_c": "n.243-27163G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000477723.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.062,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.23294177651405334,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 725,
"aa_ref": "Q",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7974,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 2178,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_024744.17",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.379C>G",
"hgvs_p": "p.Gln127Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000438828.4",
"protein_coding": true,
"protein_id": "NP_079020.13",
"strand": true,
"transcript": "NM_024744.17",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 725,
"aa_ref": "Q",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7974,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 2178,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000438828.4",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.379C>G",
"hgvs_p": "p.Gln127Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024744.17",
"protein_coding": true,
"protein_id": "ENSP00000414644.1",
"strand": true,
"transcript": "ENST00000438828.4",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 725,
"aa_ref": "Q",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5938,
"cdna_start": 700,
"cds_end": null,
"cds_length": 2178,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000402905.7",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.379C>G",
"hgvs_p": "p.Gln127Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384006.2",
"strand": true,
"transcript": "ENST00000402905.7",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 309,
"aa_ref": "Q",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": 659,
"cds_end": null,
"cds_length": 930,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000444724.5",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.379C>G",
"hgvs_p": "p.Gln127Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416812.1",
"strand": true,
"transcript": "ENST00000444724.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 207,
"aa_ref": "Q",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": 395,
"cds_end": null,
"cds_length": 624,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000434998.5",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.73C>G",
"hgvs_p": "p.Gln25Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415948.1",
"strand": true,
"transcript": "ENST00000434998.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1592,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000422368.5",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "n.289C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000392274.1",
"strand": true,
"transcript": "ENST00000422368.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 725,
"aa_ref": "Q",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7077,
"cdna_start": 639,
"cds_end": null,
"cds_length": 2178,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001104586.4",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.379C>G",
"hgvs_p": "p.Gln127Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001098056.1",
"strand": true,
"transcript": "NM_001104586.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 725,
"aa_ref": "Q",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7136,
"cdna_start": 698,
"cds_end": null,
"cds_length": 2178,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001322427.3",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.379C>G",
"hgvs_p": "p.Gln127Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309356.1",
"strand": true,
"transcript": "NM_001322427.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 725,
"aa_ref": "Q",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7867,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 2178,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001322428.3",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.379C>G",
"hgvs_p": "p.Gln127Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309357.1",
"strand": true,
"transcript": "NM_001322428.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 725,
"aa_ref": "Q",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4670,
"cdna_start": 1425,
"cds_end": null,
"cds_length": 2178,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877496.1",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.379C>G",
"hgvs_p": "p.Gln127Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547555.1",
"strand": true,
"transcript": "ENST00000877496.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 725,
"aa_ref": "Q",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4656,
"cdna_start": 1411,
"cds_end": null,
"cds_length": 2178,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877497.1",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.379C>G",
"hgvs_p": "p.Gln127Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547556.1",
"strand": true,
"transcript": "ENST00000877497.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 725,
"aa_ref": "Q",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4513,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 2178,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877498.1",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.379C>G",
"hgvs_p": "p.Gln127Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547557.1",
"strand": true,
"transcript": "ENST00000877498.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 725,
"aa_ref": "Q",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6004,
"cdna_start": 857,
"cds_end": null,
"cds_length": 2178,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000919375.1",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.379C>G",
"hgvs_p": "p.Gln127Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589434.1",
"strand": true,
"transcript": "ENST00000919375.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 725,
"aa_ref": "Q",
"aa_start": 127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2748,
"cdna_start": 614,
"cds_end": null,
"cds_length": 2178,
"cds_start": 379,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000943229.1",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.379C>G",
"hgvs_p": "p.Gln127Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613288.1",
"strand": true,
"transcript": "ENST00000943229.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Q",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6956,
"cdna_start": 518,
"cds_end": null,
"cds_length": 2142,
"cds_start": 343,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001322429.3",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Gln115Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309358.1",
"strand": true,
"transcript": "NM_001322429.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 649,
"aa_ref": "Q",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6849,
"cdna_start": 411,
"cds_end": null,
"cds_length": 1950,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001282910.3",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Gln51Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269839.1",
"strand": true,
"transcript": "NM_001282910.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 649,
"aa_ref": "Q",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6930,
"cdna_start": 492,
"cds_end": null,
"cds_length": 1950,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001282911.3",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Gln51Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269840.1",
"strand": true,
"transcript": "NM_001282911.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 649,
"aa_ref": "Q",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5209,
"cdna_start": 549,
"cds_end": null,
"cds_length": 1950,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000320443.12",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Gln51Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000316224.9",
"strand": true,
"transcript": "ENST00000320443.12",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 649,
"aa_ref": "Q",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2513,
"cdna_start": 403,
"cds_end": null,
"cds_length": 1950,
"cds_start": 151,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000428585.5",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.151C>G",
"hgvs_p": "p.Gln51Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396221.1",
"strand": true,
"transcript": "ENST00000428585.5",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 637,
"aa_ref": "Q",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6728,
"cdna_start": 290,
"cds_end": null,
"cds_length": 1914,
"cds_start": 115,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001282912.3",
"gene_hgnc_id": 14435,
"gene_symbol": "CARF",
"hgvs_c": "c.115C>G",
"hgvs_p": "p.Gln39Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269841.1",
"strand": true,
"transcript": "NM_001282912.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 623,
"aa_ref": "Q",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": 282,
"cds_end": null,
"cds_length": 1872,
"cds_start": 73,
"consequences": [
"missense_variant"
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