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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: 3-15073853-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15073853&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RBSN",
"hgnc_id": 20759,
"hgvs_c": "c.2284G>C",
"hgvs_p": "p.Val762Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_022340.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"effects": [
"splice_donor_variant",
"intron_variant"
],
"gene_symbol": "ENSG00000289750",
"hgnc_id": null,
"hgvs_c": "n.1698+1G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000698784.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000296046",
"hgnc_id": null,
"hgvs_c": "n.143+3294C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000735943.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.7946,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6625223755836487,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "V",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6678,
"cdna_start": 2898,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2284,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_022340.4",
"gene_hgnc_id": 20759,
"gene_symbol": "RBSN",
"hgvs_c": "c.2284G>C",
"hgvs_p": "p.Val762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000253699.7",
"protein_coding": true,
"protein_id": "NP_071735.2",
"strand": false,
"transcript": "NM_022340.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "V",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6678,
"cdna_start": 2898,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2284,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000253699.7",
"gene_hgnc_id": 20759,
"gene_symbol": "RBSN",
"hgvs_c": "c.2284G>C",
"hgvs_p": "p.Val762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022340.4",
"protein_coding": true,
"protein_id": "ENSP00000253699.3",
"strand": false,
"transcript": "ENST00000253699.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 814,
"aa_ref": "V",
"aa_start": 792,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3828,
"cdna_start": 3048,
"cds_end": null,
"cds_length": 2445,
"cds_start": 2374,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000945194.1",
"gene_hgnc_id": 20759,
"gene_symbol": "RBSN",
"hgvs_c": "c.2374G>C",
"hgvs_p": "p.Val792Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615253.1",
"strand": false,
"transcript": "ENST00000945194.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "V",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6522,
"cdna_start": 2742,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2284,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001302378.2",
"gene_hgnc_id": 20759,
"gene_symbol": "RBSN",
"hgvs_c": "c.2284G>C",
"hgvs_p": "p.Val762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289307.1",
"strand": false,
"transcript": "NM_001302378.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "V",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6541,
"cdna_start": 2757,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2284,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000476527.7",
"gene_hgnc_id": 20759,
"gene_symbol": "RBSN",
"hgvs_c": "c.2284G>C",
"hgvs_p": "p.Val762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422551.1",
"strand": false,
"transcript": "ENST00000476527.7",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "V",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6691,
"cdna_start": 2911,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2284,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000905152.1",
"gene_hgnc_id": 20759,
"gene_symbol": "RBSN",
"hgvs_c": "c.2284G>C",
"hgvs_p": "p.Val762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575211.1",
"strand": false,
"transcript": "ENST00000905152.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "V",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6504,
"cdna_start": 2722,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2284,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000938328.1",
"gene_hgnc_id": 20759,
"gene_symbol": "RBSN",
"hgvs_c": "c.2284G>C",
"hgvs_p": "p.Val762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608387.1",
"strand": false,
"transcript": "ENST00000938328.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "V",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5346,
"cdna_start": 4400,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2284,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000938329.1",
"gene_hgnc_id": 20759,
"gene_symbol": "RBSN",
"hgvs_c": "c.2284G>C",
"hgvs_p": "p.Val762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608388.1",
"strand": false,
"transcript": "ENST00000938329.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "V",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": 2992,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2284,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000938330.1",
"gene_hgnc_id": 20759,
"gene_symbol": "RBSN",
"hgvs_c": "c.2284G>C",
"hgvs_p": "p.Val762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608389.1",
"strand": false,
"transcript": "ENST00000938330.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "V",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4148,
"cdna_start": 3204,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2284,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000938331.1",
"gene_hgnc_id": 20759,
"gene_symbol": "RBSN",
"hgvs_c": "c.2284G>C",
"hgvs_p": "p.Val762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608390.1",
"strand": false,
"transcript": "ENST00000938331.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "V",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3359,
"cdna_start": 3085,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2284,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000938332.1",
"gene_hgnc_id": 20759,
"gene_symbol": "RBSN",
"hgvs_c": "c.2284G>C",
"hgvs_p": "p.Val762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608391.1",
"strand": false,
"transcript": "ENST00000938332.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6661,
"cdna_start": 2881,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2284,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000945191.1",
"gene_hgnc_id": 20759,
"gene_symbol": "RBSN",
"hgvs_c": "c.2284G>C",
"hgvs_p": "p.Val762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615250.1",
"strand": false,
"transcript": "ENST00000945191.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "V",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4974,
"cdna_start": 2802,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2284,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000945193.1",
"gene_hgnc_id": 20759,
"gene_symbol": "RBSN",
"hgvs_c": "c.2284G>C",
"hgvs_p": "p.Val762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615252.1",
"strand": false,
"transcript": "ENST00000945193.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 737,
"aa_ref": "V",
"aa_start": 715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8099,
"cdna_start": 2817,
"cds_end": null,
"cds_length": 2214,
"cds_start": 2143,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000945190.1",
"gene_hgnc_id": 20759,
"gene_symbol": "RBSN",
"hgvs_c": "c.2143G>C",
"hgvs_p": "p.Val715Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615249.1",
"strand": false,
"transcript": "ENST00000945190.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 737,
"aa_ref": "V",
"aa_start": 715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4733,
"cdna_start": 2599,
"cds_end": null,
"cds_length": 2214,
"cds_start": 2143,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000945192.1",
"gene_hgnc_id": 20759,
"gene_symbol": "RBSN",
"hgvs_c": "c.2143G>C",
"hgvs_p": "p.Val715Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615251.1",
"strand": false,
"transcript": "ENST00000945192.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "V",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6661,
"cdna_start": 2881,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2284,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_005265384.5",
"gene_hgnc_id": 20759,
"gene_symbol": "RBSN",
"hgvs_c": "c.2284G>C",
"hgvs_p": "p.Val762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005265441.1",
"strand": false,
"transcript": "XM_005265384.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 784,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6505,
"cdna_start": 2725,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2284,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_005265385.5",
"gene_hgnc_id": 20759,
"gene_symbol": "RBSN",
"hgvs_c": "c.2284G>C",
"hgvs_p": "p.Val762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005265442.1",
"strand": false,
"transcript": "XM_005265385.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "V",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6535,
"cdna_start": 2755,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2284,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_017007023.2",
"gene_hgnc_id": 20759,
"gene_symbol": "RBSN",
"hgvs_c": "c.2284G>C",
"hgvs_p": "p.Val762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862512.1",
"strand": false,
"transcript": "XM_017007023.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "V",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6691,
"cdna_start": 2911,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2284,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047448706.1",
"gene_hgnc_id": 20759,
"gene_symbol": "RBSN",
"hgvs_c": "c.2284G>C",
"hgvs_p": "p.Val762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304662.1",
"strand": false,
"transcript": "XM_047448706.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 784,
"aa_ref": "V",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6674,
"cdna_start": 2894,
"cds_end": null,
"cds_length": 2355,
"cds_start": 2284,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047448707.1",
"gene_hgnc_id": 20759,
"gene_symbol": "RBSN",
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