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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: 11-6609561-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=6609561&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ILK",
"hgnc_id": 6040,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Pro260Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_004517.4",
"verdict": "Likely_benign"
},
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "TAF10",
"hgnc_id": 11543,
"hgvs_c": "c.*1361G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_006284.4",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000254641",
"hgnc_id": null,
"hgvs_c": "n.228+347G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000527398.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 112,
"alphamissense_prediction": null,
"alphamissense_score": 0.1028,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.02,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Primary familial hypertrophic cardiomyopathy,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.37495216727256775,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 452,
"aa_ref": "P",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1759,
"cdna_start": 919,
"cds_end": null,
"cds_length": 1359,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_004517.4",
"gene_hgnc_id": 6040,
"gene_symbol": "ILK",
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Pro260Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000299421.9",
"protein_coding": true,
"protein_id": "NP_004508.1",
"strand": true,
"transcript": "NM_004517.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 452,
"aa_ref": "P",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1759,
"cdna_start": 919,
"cds_end": null,
"cds_length": 1359,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000299421.9",
"gene_hgnc_id": 6040,
"gene_symbol": "ILK",
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Pro260Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004517.4",
"protein_coding": true,
"protein_id": "ENSP00000299421.4",
"strand": true,
"transcript": "ENST00000299421.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 452,
"aa_ref": "P",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2074,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 1359,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000396751.6",
"gene_hgnc_id": 6040,
"gene_symbol": "ILK",
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Pro260Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379975.2",
"strand": true,
"transcript": "ENST00000396751.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 452,
"aa_ref": "P",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1692,
"cdna_start": 889,
"cds_end": null,
"cds_length": 1359,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000420936.6",
"gene_hgnc_id": 6040,
"gene_symbol": "ILK",
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Pro260Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403487.2",
"strand": true,
"transcript": "ENST00000420936.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 218,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5312,
"cdna_start": null,
"cds_end": null,
"cds_length": 657,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_006284.4",
"gene_hgnc_id": 11543,
"gene_symbol": "TAF10",
"hgvs_c": "c.*1361G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000299424.9",
"protein_coding": true,
"protein_id": "NP_006275.1",
"strand": false,
"transcript": "NM_006284.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 218,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5312,
"cdna_start": null,
"cds_end": null,
"cds_length": 657,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000299424.9",
"gene_hgnc_id": 11543,
"gene_symbol": "TAF10",
"hgvs_c": "c.*1361G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006284.4",
"protein_coding": true,
"protein_id": "ENSP00000299424.4",
"strand": false,
"transcript": "ENST00000299424.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5392,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000616342.1",
"gene_hgnc_id": 11543,
"gene_symbol": "TAF10",
"hgvs_c": "n.2127G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000616342.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 483,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1801,
"cdna_start": 996,
"cds_end": null,
"cds_length": 1452,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000537806.5",
"gene_hgnc_id": 6040,
"gene_symbol": "ILK",
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Pro291Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439606.2",
"strand": true,
"transcript": "ENST00000537806.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 483,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1877,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 1452,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000875224.1",
"gene_hgnc_id": 6040,
"gene_symbol": "ILK",
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Pro291Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545283.1",
"strand": true,
"transcript": "ENST00000875224.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 483,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2232,
"cdna_start": 1390,
"cds_end": null,
"cds_length": 1452,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000918172.1",
"gene_hgnc_id": 6040,
"gene_symbol": "ILK",
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Pro291Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588231.1",
"strand": true,
"transcript": "ENST00000918172.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 483,
"aa_ref": "P",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1452,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000951920.1",
"gene_hgnc_id": 6040,
"gene_symbol": "ILK",
"hgvs_c": "c.871C>T",
"hgvs_p": "p.Pro291Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621979.1",
"strand": true,
"transcript": "ENST00000951920.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 452,
"aa_ref": "P",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1713,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1359,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001014794.3",
"gene_hgnc_id": 6040,
"gene_symbol": "ILK",
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Pro260Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001014794.1",
"strand": true,
"transcript": "NM_001014794.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 452,
"aa_ref": "P",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2116,
"cdna_start": 1276,
"cds_end": null,
"cds_length": 1359,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001014795.3",
"gene_hgnc_id": 6040,
"gene_symbol": "ILK",
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Pro260Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001014795.1",
"strand": true,
"transcript": "NM_001014795.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 452,
"aa_ref": "P",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1818,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1359,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000875220.1",
"gene_hgnc_id": 6040,
"gene_symbol": "ILK",
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Pro260Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545279.1",
"strand": true,
"transcript": "ENST00000875220.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 452,
"aa_ref": "P",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": 883,
"cds_end": null,
"cds_length": 1359,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000875221.1",
"gene_hgnc_id": 6040,
"gene_symbol": "ILK",
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Pro260Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545280.1",
"strand": true,
"transcript": "ENST00000875221.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 452,
"aa_ref": "P",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1738,
"cdna_start": 898,
"cds_end": null,
"cds_length": 1359,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000875222.1",
"gene_hgnc_id": 6040,
"gene_symbol": "ILK",
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Pro260Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545281.1",
"strand": true,
"transcript": "ENST00000875222.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 452,
"aa_ref": "P",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1841,
"cdna_start": 997,
"cds_end": null,
"cds_length": 1359,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000875223.1",
"gene_hgnc_id": 6040,
"gene_symbol": "ILK",
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Pro260Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545282.1",
"strand": true,
"transcript": "ENST00000875223.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 452,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1359,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000875228.1",
"gene_hgnc_id": 6040,
"gene_symbol": "ILK",
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Pro260Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545287.1",
"strand": true,
"transcript": "ENST00000875228.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 452,
"aa_ref": "P",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1759,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1359,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000918174.1",
"gene_hgnc_id": 6040,
"gene_symbol": "ILK",
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Pro260Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588233.1",
"strand": true,
"transcript": "ENST00000918174.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 452,
"aa_ref": "P",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1783,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1359,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000951915.1",
"gene_hgnc_id": 6040,
"gene_symbol": "ILK",
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Pro260Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621974.1",
"strand": true,
"transcript": "ENST00000951915.1",
"transcript_support_level": null
},
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}