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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: 15-30929223-CA-CAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=30929223&ref=CA&alt=CAC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "FAN1",
"hgnc_id": 29170,
"hgvs_c": "c.2615dupC",
"hgvs_p": "p.Asp873fs",
"inheritance_mode": "AR,AD,Unknown",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_014967.5",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MTMR10",
"hgnc_id": 25999,
"hgvs_c": "c.1549-415dupG",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "XM_047432771.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "T?",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "T",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4849,
"cdna_start": 2865,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2616,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_014967.5",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.2615dupC",
"hgvs_p": "p.Asp873fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000362065.9",
"protein_coding": true,
"protein_id": "NP_055782.3",
"strand": true,
"transcript": "NM_014967.5",
"transcript_support_level": null
},
{
"aa_alt": "T?",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "T",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4849,
"cdna_start": 2865,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2616,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000362065.9",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.2615dupC",
"hgvs_p": "p.Asp873fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014967.5",
"protein_coding": true,
"protein_id": "ENSP00000354497.4",
"strand": true,
"transcript": "ENST00000362065.9",
"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": 4999,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000565280.5",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "n.*1456dupC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455573.1",
"strand": true,
"transcript": "ENST00000565280.5",
"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": 4999,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000565280.5",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "n.*1456dupC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455573.1",
"strand": true,
"transcript": "ENST00000565280.5",
"transcript_support_level": 1
},
{
"aa_alt": "T?",
"aa_end": null,
"aa_length": 1065,
"aa_ref": "T",
"aa_start": 920,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5025,
"cdna_start": 3050,
"cds_end": null,
"cds_length": 3198,
"cds_start": 2760,
"consequences": [
"frameshift_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000915272.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.2759dupC",
"hgvs_p": "p.Asp921fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585331.1",
"strand": true,
"transcript": "ENST00000915272.1",
"transcript_support_level": null
},
{
"aa_alt": "T?",
"aa_end": null,
"aa_length": 1022,
"aa_ref": "T",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4984,
"cdna_start": 3000,
"cds_end": null,
"cds_length": 3069,
"cds_start": 2631,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000879296.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.2630dupC",
"hgvs_p": "p.Asp878fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549355.1",
"strand": true,
"transcript": "ENST00000879296.1",
"transcript_support_level": null
},
{
"aa_alt": "T?",
"aa_end": null,
"aa_length": 1022,
"aa_ref": "T",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3772,
"cdna_start": 2893,
"cds_end": null,
"cds_length": 3069,
"cds_start": 2631,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000879300.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.2630dupC",
"hgvs_p": "p.Asp878fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549359.1",
"strand": true,
"transcript": "ENST00000879300.1",
"transcript_support_level": null
},
{
"aa_alt": "T?",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "T",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4753,
"cdna_start": 2792,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2616,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000656435.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.2615dupC",
"hgvs_p": "p.Asp873fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499534.1",
"strand": true,
"transcript": "ENST00000656435.1",
"transcript_support_level": null
},
{
"aa_alt": "T?",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "T",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4442,
"cdna_start": 2799,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2616,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000657391.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.2615dupC",
"hgvs_p": "p.Asp873fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499703.1",
"strand": true,
"transcript": "ENST00000657391.1",
"transcript_support_level": null
},
{
"aa_alt": "T?",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "T",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4714,
"cdna_start": 2907,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2616,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000670849.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.2615dupC",
"hgvs_p": "p.Asp873fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499638.1",
"strand": true,
"transcript": "ENST00000670849.1",
"transcript_support_level": null
},
{
"aa_alt": "T?",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "T",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4774,
"cdna_start": 2792,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2616,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000879297.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.2615dupC",
"hgvs_p": "p.Asp873fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549356.1",
"strand": true,
"transcript": "ENST00000879297.1",
"transcript_support_level": null
},
{
"aa_alt": "T?",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "T",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4992,
"cdna_start": 3013,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2616,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000879299.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.2615dupC",
"hgvs_p": "p.Asp873fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549358.1",
"strand": true,
"transcript": "ENST00000879299.1",
"transcript_support_level": null
},
{
"aa_alt": "T?",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "T",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 2868,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2616,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000879301.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.2615dupC",
"hgvs_p": "p.Asp873fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549360.1",
"strand": true,
"transcript": "ENST00000879301.1",
"transcript_support_level": null
},
{
"aa_alt": "T?",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "T",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3521,
"cdna_start": 2844,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2616,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000915271.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.2615dupC",
"hgvs_p": "p.Asp873fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585330.1",
"strand": true,
"transcript": "ENST00000915271.1",
"transcript_support_level": null
},
{
"aa_alt": "T?",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "T",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5380,
"cdna_start": 3396,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2616,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000915273.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.2615dupC",
"hgvs_p": "p.Asp873fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585332.1",
"strand": true,
"transcript": "ENST00000915273.1",
"transcript_support_level": null
},
{
"aa_alt": "T?",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "T",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4858,
"cdna_start": 2874,
"cds_end": null,
"cds_length": 3054,
"cds_start": 2616,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967654.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.2615dupC",
"hgvs_p": "p.Asp873fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637713.1",
"strand": true,
"transcript": "ENST00000967654.1",
"transcript_support_level": null
},
{
"aa_alt": "T?",
"aa_end": null,
"aa_length": 1012,
"aa_ref": "T",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4851,
"cdna_start": 2870,
"cds_end": null,
"cds_length": 3039,
"cds_start": 2601,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000967653.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.2600dupC",
"hgvs_p": "p.Asp868fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637712.1",
"strand": true,
"transcript": "ENST00000967653.1",
"transcript_support_level": null
},
{
"aa_alt": "T?",
"aa_end": null,
"aa_length": 997,
"aa_ref": "T",
"aa_start": 828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4788,
"cdna_start": 2736,
"cds_end": null,
"cds_length": 2994,
"cds_start": 2484,
"consequences": [
"frameshift_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000967655.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.2483dupC",
"hgvs_p": "p.Asp829fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637714.1",
"strand": true,
"transcript": "ENST00000967655.1",
"transcript_support_level": null
},
{
"aa_alt": "T?",
"aa_end": null,
"aa_length": 974,
"aa_ref": "T",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4743,
"cdna_start": 2886,
"cds_end": null,
"cds_length": 2925,
"cds_start": 2616,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000915277.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.2615dupC",
"hgvs_p": "p.Asp873fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585336.1",
"strand": true,
"transcript": "ENST00000915277.1",
"transcript_support_level": null
},
{
"aa_alt": "T?",
"aa_end": null,
"aa_length": 973,
"aa_ref": "T",
"aa_start": 828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4741,
"cdna_start": 2757,
"cds_end": null,
"cds_length": 2922,
"cds_start": 2484,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000879298.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.2483dupC",
"hgvs_p": "p.Asp829fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549357.1",
"strand": true,
"transcript": "ENST00000879298.1",
"transcript_support_level": null
},
{
"aa_alt": "T?",
"aa_end": null,
"aa_length": 973,
"aa_ref": "T",
"aa_start": 828,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4728,
"cdna_start": 2744,
"cds_end": null,
"cds_length": 2922,
"cds_start": 2484,
"consequences": [
"frameshift_variant"
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