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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: 17-8369412-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8369412&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KRABD2",
"hgnc_id": 26989,
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Val401Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_213597.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KRBA2",
"hgnc_id": 26989,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Val319Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000396267.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000263809",
"hgnc_id": null,
"hgvs_c": "n.*1938G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000582471.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000265749",
"hgnc_id": null,
"hgvs_c": "n.153+3691C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000579904.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 46,
"alphamissense_prediction": null,
"alphamissense_score": 0.0741,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"chr": "17",
"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": 0.03785637021064758,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12370,
"cdna_start": 1780,
"cds_end": null,
"cds_length": 1233,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001304947.3",
"gene_hgnc_id": 26989,
"gene_symbol": "KRABD2",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Val319Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396267.3",
"protein_coding": true,
"protein_id": "NP_001291876.1",
"strand": false,
"transcript": "NM_001304947.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12370,
"cdna_start": 1780,
"cds_end": null,
"cds_length": 1233,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000396267.3",
"gene_hgnc_id": 26989,
"gene_symbol": "KRBA2",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Val319Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001304947.3",
"protein_coding": true,
"protein_id": "ENSP00000379565.3",
"strand": false,
"transcript": "ENST00000396267.3",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3087,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000582471.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000263809",
"hgvs_c": "n.*1938G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463847.1",
"strand": false,
"transcript": "ENST00000582471.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3087,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000582471.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000263809",
"hgvs_c": "n.*1938G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463847.1",
"strand": false,
"transcript": "ENST00000582471.1",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 492,
"aa_ref": "V",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": 1207,
"cds_end": null,
"cds_length": 1479,
"cds_start": 1201,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_213597.3",
"gene_hgnc_id": 26989,
"gene_symbol": "KRABD2",
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Val401Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_998762.1",
"strand": false,
"transcript": "NM_213597.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 492,
"aa_ref": "V",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3209,
"cdna_start": 2507,
"cds_end": null,
"cds_length": 1479,
"cds_start": 1201,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000643221.1",
"gene_hgnc_id": 26989,
"gene_symbol": "KRBA2",
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Val401Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494883.1",
"strand": false,
"transcript": "ENST00000643221.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 458,
"aa_ref": "V",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2570,
"cdna_start": 2138,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1099,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000647210.1",
"gene_hgnc_id": 26989,
"gene_symbol": "KRBA2",
"hgvs_c": "c.1099G>A",
"hgvs_p": "p.Val367Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496270.1",
"strand": false,
"transcript": "ENST00000647210.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 458,
"aa_ref": "V",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3038,
"cdna_start": 2365,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1099,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000649935.1",
"gene_hgnc_id": 26989,
"gene_symbol": "KRBA2",
"hgvs_c": "c.1099G>A",
"hgvs_p": "p.Val367Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496946.1",
"strand": false,
"transcript": "ENST00000649935.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2674,
"cdna_start": 1899,
"cds_end": null,
"cds_length": 1233,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851333.1",
"gene_hgnc_id": 26989,
"gene_symbol": "KRBA2",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Val319Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521392.1",
"strand": false,
"transcript": "ENST00000851333.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1980,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 1233,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000851334.1",
"gene_hgnc_id": 26989,
"gene_symbol": "KRBA2",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Val319Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521393.1",
"strand": false,
"transcript": "ENST00000851334.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3168,
"cdna_start": 2393,
"cds_end": null,
"cds_length": 1233,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952554.1",
"gene_hgnc_id": 26989,
"gene_symbol": "KRBA2",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Val319Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622613.1",
"strand": false,
"transcript": "ENST00000952554.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2489,
"cdna_start": 1731,
"cds_end": null,
"cds_length": 1233,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000952555.1",
"gene_hgnc_id": 26989,
"gene_symbol": "KRBA2",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Val319Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622614.1",
"strand": false,
"transcript": "ENST00000952555.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2725,
"cdna_start": 1970,
"cds_end": null,
"cds_length": 1233,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000952556.1",
"gene_hgnc_id": 26989,
"gene_symbol": "KRBA2",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Val319Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622615.1",
"strand": false,
"transcript": "ENST00000952556.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2749,
"cdna_start": 1994,
"cds_end": null,
"cds_length": 1233,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000952557.1",
"gene_hgnc_id": 26989,
"gene_symbol": "KRBA2",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Val319Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622616.1",
"strand": false,
"transcript": "ENST00000952557.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2174,
"cdna_start": 1578,
"cds_end": null,
"cds_length": 1233,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000952558.1",
"gene_hgnc_id": 26989,
"gene_symbol": "KRBA2",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Val319Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622617.1",
"strand": false,
"transcript": "ENST00000952558.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2891,
"cdna_start": 2464,
"cds_end": null,
"cds_length": 1233,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000952559.1",
"gene_hgnc_id": 26989,
"gene_symbol": "KRBA2",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Val319Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622618.1",
"strand": false,
"transcript": "ENST00000952559.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3857,
"cdna_start": 3100,
"cds_end": null,
"cds_length": 1233,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000952560.1",
"gene_hgnc_id": 26989,
"gene_symbol": "KRBA2",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Val319Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622619.1",
"strand": false,
"transcript": "ENST00000952560.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2509,
"cdna_start": 1734,
"cds_end": null,
"cds_length": 1233,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000952561.1",
"gene_hgnc_id": 26989,
"gene_symbol": "KRBA2",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Val319Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622620.1",
"strand": false,
"transcript": "ENST00000952561.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 827,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000579904.6",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000265749",
"hgvs_c": "n.153+3691C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000579904.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 579,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
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],
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}