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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: 6-18197644-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=18197644&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KDM1B",
"hgnc_id": 21577,
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.His411Tyr",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001439117.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.092,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "6",
"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": 0.49410194158554077,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 822,
"aa_ref": "H",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4538,
"cdna_start": 1411,
"cds_end": null,
"cds_length": 2469,
"cds_start": 1204,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001364614.2",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
"hgvs_c": "c.1204C>T",
"hgvs_p": "p.His402Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000650836.2",
"protein_coding": true,
"protein_id": "NP_001351543.1",
"strand": true,
"transcript": "NM_001364614.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 822,
"aa_ref": "H",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4538,
"cdna_start": 1411,
"cds_end": null,
"cds_length": 2469,
"cds_start": 1204,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000650836.2",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
"hgvs_c": "c.1204C>T",
"hgvs_p": "p.His402Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001364614.2",
"protein_coding": true,
"protein_id": "ENSP00000499208.1",
"strand": true,
"transcript": "ENST00000650836.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 113,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 496,
"cdna_start": null,
"cds_end": null,
"cds_length": 342,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000546309.6",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
"hgvs_c": "c.-18-17363C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442670.1",
"strand": true,
"transcript": "ENST00000546309.6",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 832,
"aa_ref": "H",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4568,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001439117.1",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.His411Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426046.1",
"strand": true,
"transcript": "NM_001439117.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 831,
"aa_ref": "H",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4565,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 2496,
"cds_start": 1231,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001439118.1",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
"hgvs_c": "c.1231C>T",
"hgvs_p": "p.His411Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426047.1",
"strand": true,
"transcript": "NM_001439118.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 823,
"aa_ref": "H",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4541,
"cdna_start": 1411,
"cds_end": null,
"cds_length": 2472,
"cds_start": 1204,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001439119.1",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
"hgvs_c": "c.1204C>T",
"hgvs_p": "p.His402Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426048.1",
"strand": true,
"transcript": "NM_001439119.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 823,
"aa_ref": "H",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2877,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 2472,
"cds_start": 1204,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000449850.2",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
"hgvs_c": "c.1204C>T",
"hgvs_p": "p.His402Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405669.2",
"strand": true,
"transcript": "ENST00000449850.2",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 823,
"aa_ref": "H",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4468,
"cdna_start": 1344,
"cds_end": null,
"cds_length": 2472,
"cds_start": 1204,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000897550.1",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
"hgvs_c": "c.1204C>T",
"hgvs_p": "p.His402Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567609.1",
"strand": true,
"transcript": "ENST00000897550.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 822,
"aa_ref": "H",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4494,
"cdna_start": 1367,
"cds_end": null,
"cds_length": 2469,
"cds_start": 1204,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001439130.1",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
"hgvs_c": "c.1204C>T",
"hgvs_p": "p.His402Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426059.1",
"strand": true,
"transcript": "NM_001439130.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 822,
"aa_ref": "H",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4515,
"cdna_start": 1389,
"cds_end": null,
"cds_length": 2469,
"cds_start": 1204,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000897548.1",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
"hgvs_c": "c.1204C>T",
"hgvs_p": "p.His402Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567607.1",
"strand": true,
"transcript": "ENST00000897548.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 822,
"aa_ref": "H",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4573,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 2469,
"cds_start": 1204,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000897549.1",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
"hgvs_c": "c.1204C>T",
"hgvs_p": "p.His402Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567608.1",
"strand": true,
"transcript": "ENST00000897549.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 822,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4920,
"cdna_start": 1795,
"cds_end": null,
"cds_length": 2469,
"cds_start": 1204,
"consequences": [
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],
"exon_count": 22,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000897551.1",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
"hgvs_c": "c.1204C>T",
"hgvs_p": "p.His402Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567610.1",
"strand": true,
"transcript": "ENST00000897551.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4451,
"cdna_start": 1321,
"cds_end": null,
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"cds_start": 1114,
"consequences": [
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],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001439120.1",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
"hgvs_c": "c.1114C>T",
"hgvs_p": "p.His372Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426049.1",
"strand": true,
"transcript": "NM_001439120.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 792,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4448,
"cdna_start": 1321,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1114,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001439121.1",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
"hgvs_c": "c.1114C>T",
"hgvs_p": "p.His372Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426050.1",
"strand": true,
"transcript": "NM_001439121.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 691,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 2076,
"cds_start": 808,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001439122.1",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
"hgvs_c": "c.808C>T",
"hgvs_p": "p.His270Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426051.1",
"strand": true,
"transcript": "NM_001439122.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 690,
"aa_ref": "H",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4142,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 2073,
"cds_start": 808,
"consequences": [
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],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001439123.1",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
"hgvs_c": "c.808C>T",
"hgvs_p": "p.His270Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426052.1",
"strand": true,
"transcript": "NM_001439123.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 678,
"aa_ref": "H",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4106,
"cdna_start": 976,
"cds_end": null,
"cds_length": 2037,
"cds_start": 769,
"consequences": [
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],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001439124.1",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
"hgvs_c": "c.769C>T",
"hgvs_p": "p.His257Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426053.1",
"strand": true,
"transcript": "NM_001439124.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_start": 976,
"cds_end": null,
"cds_length": 2034,
"cds_start": 769,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001439125.1",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
"hgvs_c": "c.769C>T",
"hgvs_p": "p.His257Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426054.1",
"strand": true,
"transcript": "NM_001439125.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4011,
"cdna_start": 881,
"cds_end": null,
"cds_length": 1986,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001439126.1",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.His240Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426055.1",
"strand": true,
"transcript": "NM_001439126.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 660,
"aa_ref": "H",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4052,
"cdna_start": 925,
"cds_end": null,
"cds_length": 1983,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001439127.1",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
"hgvs_c": "c.718C>T",
"hgvs_p": "p.His240Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426056.1",
"strand": true,
"transcript": "NM_001439127.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 648,
"aa_ref": "H",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4016,
"cdna_start": 886,
"cds_end": null,
"cds_length": 1947,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001439128.1",
"gene_hgnc_id": 21577,
"gene_symbol": "KDM1B",
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