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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: 6-97113908-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=97113908&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KLHL32",
"hgnc_id": 21221,
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Pro278Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_001323256.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_score": -10,
"allele_count_reference_population": 10328,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0658,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "6",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0038097500801086426,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 620,
"aa_ref": "V",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3698,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 1863,
"cds_start": 753,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_052904.4",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.753C>T",
"hgvs_p": "p.Val251Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369261.9",
"protein_coding": true,
"protein_id": "NP_443136.2",
"strand": true,
"transcript": "NM_052904.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 620,
"aa_ref": "V",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3698,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 1863,
"cds_start": 753,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000369261.9",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.753C>T",
"hgvs_p": "p.Val251Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_052904.4",
"protein_coding": true,
"protein_id": "ENSP00000358265.4",
"strand": true,
"transcript": "ENST00000369261.9",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 156,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2642,
"cdna_start": null,
"cds_end": null,
"cds_length": 471,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000620278.1",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.-38-13496C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482012.1",
"strand": true,
"transcript": "ENST00000620278.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 280,
"aa_ref": "P",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2031,
"cdna_start": 1196,
"cds_end": null,
"cds_length": 843,
"cds_start": 832,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001323256.2",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.832C>T",
"hgvs_p": "p.Pro278Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310185.1",
"strand": true,
"transcript": "NM_001323256.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 176,
"aa_ref": "P",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 791,
"cdna_start": 520,
"cds_end": null,
"cds_length": 531,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000447886.1",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Pro174Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389310.1",
"strand": true,
"transcript": "ENST00000447886.1",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 620,
"aa_ref": "V",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3745,
"cdna_start": 1164,
"cds_end": null,
"cds_length": 1863,
"cds_start": 753,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001323252.2",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.753C>T",
"hgvs_p": "p.Val251Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310181.1",
"strand": true,
"transcript": "NM_001323252.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 620,
"aa_ref": "V",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4218,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 1863,
"cds_start": 753,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000951639.1",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.753C>T",
"hgvs_p": "p.Val251Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621698.1",
"strand": true,
"transcript": "ENST00000951639.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 584,
"aa_ref": "V",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3590,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 1755,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001286250.2",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.645C>T",
"hgvs_p": "p.Val215Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273179.1",
"strand": true,
"transcript": "NM_001286250.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 584,
"aa_ref": "V",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3699,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 1755,
"cds_start": 645,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000536676.5",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.645C>T",
"hgvs_p": "p.Val215Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440382.1",
"strand": true,
"transcript": "ENST00000536676.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 556,
"aa_ref": "V",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3196,
"cdna_start": 615,
"cds_end": null,
"cds_length": 1671,
"cds_start": 561,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001323263.2",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.561C>T",
"hgvs_p": "p.Val187Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310192.1",
"strand": true,
"transcript": "NM_001323263.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 551,
"aa_ref": "V",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3491,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1656,
"cds_start": 546,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001286251.2",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.546C>T",
"hgvs_p": "p.Val182Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273180.1",
"strand": true,
"transcript": "NM_001286251.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 551,
"aa_ref": "V",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3600,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 1656,
"cds_start": 546,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000539200.5",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.546C>T",
"hgvs_p": "p.Val182Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441527.1",
"strand": true,
"transcript": "ENST00000539200.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 548,
"aa_ref": "V",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3482,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1647,
"cds_start": 537,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001323257.2",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.537C>T",
"hgvs_p": "p.Val179Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310186.1",
"strand": true,
"transcript": "NM_001323257.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 524,
"aa_ref": "V",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3410,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 1575,
"cds_start": 753,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001323253.2",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.753C>T",
"hgvs_p": "p.Val251Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310182.1",
"strand": true,
"transcript": "NM_001323253.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 524,
"aa_ref": "V",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3388,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 1575,
"cds_start": 753,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859766.1",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.753C>T",
"hgvs_p": "p.Val251Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529825.1",
"strand": true,
"transcript": "ENST00000859766.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 484,
"aa_ref": "V",
"aa_start": 115,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2980,
"cdna_start": 399,
"cds_end": null,
"cds_length": 1455,
"cds_start": 345,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001323264.2",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.345C>T",
"hgvs_p": "p.Val115Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310193.1",
"strand": true,
"transcript": "NM_001323264.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 470,
"aa_ref": "V",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1952,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 1413,
"cds_start": 753,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001286252.2",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.753C>T",
"hgvs_p": "p.Val251Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273181.1",
"strand": true,
"transcript": "NM_001286252.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 452,
"aa_ref": "V",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1359,
"cds_start": 537,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001323254.2",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.537C>T",
"hgvs_p": "p.Val179Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310183.1",
"strand": true,
"transcript": "NM_001323254.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 398,
"aa_ref": "V",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1736,
"cdna_start": 901,
"cds_end": null,
"cds_length": 1197,
"cds_start": 537,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001323255.2",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.537C>T",
"hgvs_p": "p.Val179Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310184.1",
"strand": true,
"transcript": "NM_001323255.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 397,
"aa_ref": "V",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3694,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 1194,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001323260.2",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Val28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310189.1",
"strand": true,
"transcript": "NM_001323260.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 397,
"aa_ref": "V",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3192,
"cdna_start": 611,
"cds_end": null,
"cds_length": 1194,
"cds_start": 84,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001323261.2",
"gene_hgnc_id": 21221,
"gene_symbol": "KLHL32",
"hgvs_c": "c.84C>T",
"hgvs_p": "p.Val28Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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