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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: 15-89628453-GGGCTGGCTCGTC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89628453&ref=GGGCTGGCTCGTC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "KIF7",
"hgnc_id": 30497,
"hgvs_c": "c.3987_3997delACGAGCCAGCC",
"hgvs_p": "p.Arg1330fs",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_198525.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "TICRR",
"hgnc_id": 28704,
"hgvs_c": "n.*97-976_*97-966delGGCTGGCTCGT",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000561095.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CG",
"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": null,
"aa_end": null,
"aa_length": 1343,
"aa_ref": "RRASP",
"aa_start": 1329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4567,
"cdna_start": 4090,
"cds_end": null,
"cds_length": 4032,
"cds_start": 3987,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_198525.3",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3987_3997delACGAGCCAGCC",
"hgvs_p": "p.Arg1330fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394412.8",
"protein_coding": true,
"protein_id": "NP_940927.2",
"strand": false,
"transcript": "NM_198525.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1343,
"aa_ref": "RRASP",
"aa_start": 1329,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4567,
"cdna_start": 4090,
"cds_end": null,
"cds_length": 4032,
"cds_start": 3987,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000394412.8",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3987_3997delACGAGCCAGCC",
"hgvs_p": "p.Arg1330fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198525.3",
"protein_coding": true,
"protein_id": "ENSP00000377934.3",
"strand": false,
"transcript": "ENST00000394412.8",
"transcript_support_level": 5
},
{
"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": 2367,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000561095.1",
"gene_hgnc_id": 28704,
"gene_symbol": "TICRR",
"hgvs_c": "n.*97-976_*97-966delGGCTGGCTCGT",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000453922.1",
"strand": true,
"transcript": "ENST00000561095.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1384,
"aa_ref": "RRASP",
"aa_start": 1370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4661,
"cdna_start": 4184,
"cds_end": null,
"cds_length": 4155,
"cds_start": 4110,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000696512.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.4110_4120delACGAGCCAGCC",
"hgvs_p": "p.Arg1371fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512678.1",
"strand": false,
"transcript": "ENST00000696512.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1347,
"aa_ref": "RRASP",
"aa_start": 1333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4692,
"cdna_start": 4214,
"cds_end": null,
"cds_length": 4044,
"cds_start": 3999,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000946200.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3999_4009delACGAGCCAGCC",
"hgvs_p": "p.Arg1334fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616259.1",
"strand": false,
"transcript": "ENST00000946200.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1343,
"aa_ref": "RRASP",
"aa_start": 1329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4898,
"cdna_start": 4423,
"cds_end": null,
"cds_length": 4032,
"cds_start": 3987,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000896349.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3987_3997delACGAGCCAGCC",
"hgvs_p": "p.Arg1330fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566408.1",
"strand": false,
"transcript": "ENST00000896349.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1342,
"aa_ref": "RRASP",
"aa_start": 1328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4658,
"cdna_start": 4193,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3984,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000896344.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3984_3994delACGAGCCAGCC",
"hgvs_p": "p.Arg1329fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566403.1",
"strand": false,
"transcript": "ENST00000896344.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1342,
"aa_ref": "RRASP",
"aa_start": 1328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4532,
"cdna_start": 4266,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3984,
"consequences": [
"frameshift_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000896345.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3984_3994delACGAGCCAGCC",
"hgvs_p": "p.Arg1329fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566404.1",
"strand": false,
"transcript": "ENST00000896345.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1342,
"aa_ref": "RRASP",
"aa_start": 1328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4661,
"cdna_start": 4180,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3984,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000896346.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3984_3994delACGAGCCAGCC",
"hgvs_p": "p.Arg1329fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566405.1",
"strand": false,
"transcript": "ENST00000896346.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1342,
"aa_ref": "RRASP",
"aa_start": 1328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4568,
"cdna_start": 4087,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3984,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000896348.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3984_3994delACGAGCCAGCC",
"hgvs_p": "p.Arg1329fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566407.1",
"strand": false,
"transcript": "ENST00000896348.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1342,
"aa_ref": "RRASP",
"aa_start": 1328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4557,
"cdna_start": 4076,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3984,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000929691.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3984_3994delACGAGCCAGCC",
"hgvs_p": "p.Arg1329fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599750.1",
"strand": false,
"transcript": "ENST00000929691.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1342,
"aa_ref": "RRASP",
"aa_start": 1328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4992,
"cdna_start": 4511,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3984,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000929694.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3984_3994delACGAGCCAGCC",
"hgvs_p": "p.Arg1329fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599753.1",
"strand": false,
"transcript": "ENST00000929694.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1342,
"aa_ref": "RRASP",
"aa_start": 1328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4616,
"cdna_start": 4140,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3984,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000946199.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3984_3994delACGAGCCAGCC",
"hgvs_p": "p.Arg1329fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616258.1",
"strand": false,
"transcript": "ENST00000946199.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1342,
"aa_ref": "RRASP",
"aa_start": 1328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4588,
"cdna_start": 4110,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3984,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000946201.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3984_3994delACGAGCCAGCC",
"hgvs_p": "p.Arg1329fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616260.1",
"strand": false,
"transcript": "ENST00000946201.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1341,
"aa_ref": "RRASP",
"aa_start": 1327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4595,
"cdna_start": 4114,
"cds_end": null,
"cds_length": 4026,
"cds_start": 3981,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000896347.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3981_3991delACGAGCCAGCC",
"hgvs_p": "p.Arg1328fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566406.1",
"strand": false,
"transcript": "ENST00000896347.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1341,
"aa_ref": "RRASP",
"aa_start": 1327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4985,
"cdna_start": 4504,
"cds_end": null,
"cds_length": 4026,
"cds_start": 3981,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000929695.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3981_3991delACGAGCCAGCC",
"hgvs_p": "p.Arg1328fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599754.1",
"strand": false,
"transcript": "ENST00000929695.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1341,
"aa_ref": "RRASP",
"aa_start": 1327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4489,
"cdna_start": 4013,
"cds_end": null,
"cds_length": 4026,
"cds_start": 3981,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000946205.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3981_3991delACGAGCCAGCC",
"hgvs_p": "p.Arg1328fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616264.1",
"strand": false,
"transcript": "ENST00000946205.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1339,
"aa_ref": "RRASP",
"aa_start": 1325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4460,
"cdna_start": 4007,
"cds_end": null,
"cds_length": 4020,
"cds_start": 3975,
"consequences": [
"frameshift_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000946206.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3975_3985delACGAGCCAGCC",
"hgvs_p": "p.Arg1326fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616265.1",
"strand": false,
"transcript": "ENST00000946206.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1334,
"aa_ref": "RRASP",
"aa_start": 1320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4499,
"cdna_start": 4018,
"cds_end": null,
"cds_length": 4005,
"cds_start": 3960,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000929693.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3960_3970delACGAGCCAGCC",
"hgvs_p": "p.Arg1321fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599752.1",
"strand": false,
"transcript": "ENST00000929693.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1333,
"aa_ref": "RRASP",
"aa_start": 1319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4291,
"cdna_start": 4051,
"cds_end": null,
"cds_length": 4002,
"cds_start": 3957,
"consequences": [
"frameshift_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000929697.1",
"gene_hgnc_id": 30497,
"gene_symbol": "KIF7",
"hgvs_c": "c.3957_3967delACGAGCCAGCC",
"hgvs_p": "p.Arg1320fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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