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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: 11-674651-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=674651&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 674651,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000382409.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1388T>C",
"hgvs_p": "p.Leu463Ser",
"transcript": "NM_021008.4",
"protein_id": "NP_066288.2",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 565,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": "ENST00000382409.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1388T>C",
"hgvs_p": "p.Leu463Ser",
"transcript": "ENST00000382409.4",
"protein_id": "ENSP00000371846.3",
"transcript_support_level": 1,
"aa_start": 463,
"aa_end": null,
"aa_length": 565,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": "NM_021008.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.749T>C",
"hgvs_p": null,
"transcript": "ENST00000527170.5",
"protein_id": "ENSP00000431563.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1184T>C",
"hgvs_p": "p.Leu395Ser",
"transcript": "ENST00000685854.1",
"protein_id": "ENSP00000508801.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 599,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 2314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1388T>C",
"hgvs_p": "p.Leu463Ser",
"transcript": "NM_001440883.1",
"protein_id": "NP_001427812.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 535,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1259T>C",
"hgvs_p": "p.Leu420Ser",
"transcript": "NM_001440884.1",
"protein_id": "NP_001427813.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 522,
"cds_start": 1259,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1121T>C",
"hgvs_p": "p.Leu374Ser",
"transcript": "NM_001293634.2",
"protein_id": "NP_001280563.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 490,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1473,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1184T>C",
"hgvs_p": "p.Leu395Ser",
"transcript": "ENST00000686001.1",
"protein_id": "ENSP00000508459.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 489,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1184T>C",
"hgvs_p": "p.Leu395Ser",
"transcript": "ENST00000689835.1",
"protein_id": "ENSP00000510621.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 470,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 1778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1055T>C",
"hgvs_p": "p.Leu352Ser",
"transcript": "ENST00000690068.1",
"protein_id": "ENSP00000509089.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 454,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1253,
"cdna_end": null,
"cdna_length": 1866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Leu221Ser",
"transcript": "NM_001367390.1",
"protein_id": "NP_001354319.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 323,
"cds_start": 662,
"cds_end": null,
"cds_length": 972,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Leu221Ser",
"transcript": "NM_001440885.1",
"protein_id": "NP_001427814.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 323,
"cds_start": 662,
"cds_end": null,
"cds_length": 972,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Leu221Ser",
"transcript": "NM_001440886.1",
"protein_id": "NP_001427815.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 323,
"cds_start": 662,
"cds_end": null,
"cds_length": 972,
"cdna_start": 2833,
"cdna_end": null,
"cdna_length": 3460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Leu221Ser",
"transcript": "NM_001440887.1",
"protein_id": "NP_001427816.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 323,
"cds_start": 662,
"cds_end": null,
"cds_length": 972,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 2270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Leu221Ser",
"transcript": "ENST00000683307.1",
"protein_id": "ENSP00000507198.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 323,
"cds_start": 662,
"cds_end": null,
"cds_length": 972,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1388T>C",
"hgvs_p": "p.Leu463Ser",
"transcript": "XM_047426248.1",
"protein_id": "XP_047282204.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 561,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1388T>C",
"hgvs_p": "p.Leu463Ser",
"transcript": "XM_011519842.4",
"protein_id": "XP_011518144.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 551,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.1388T>C",
"hgvs_p": "p.Leu463Ser",
"transcript": "XM_047426249.1",
"protein_id": "XP_047282205.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 539,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "c.662T>C",
"hgvs_p": "p.Leu221Ser",
"transcript": "XM_047426250.1",
"protein_id": "XP_047282206.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 309,
"cds_start": 662,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 2110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.1273T>C",
"hgvs_p": null,
"transcript": "ENST00000525626.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.571T>C",
"hgvs_p": null,
"transcript": "ENST00000525904.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.219T>C",
"hgvs_p": null,
"transcript": "ENST00000526790.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DEAF1",
"gene_hgnc_id": 14677,
"hgvs_c": "n.1274T>C",
"hgvs_p": null,
"transcript": "ENST00000528864.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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},
{
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],
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}
],
"gene_symbol": "DEAF1",
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"dbsnp": "rs1554941501",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8788845539093018,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.557,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9932,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.014,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000382409.4",
"gene_symbol": "DEAF1",
"hgnc_id": 14677,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1388T>C",
"hgvs_p": "p.Leu463Ser"
},
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000527799.1",
"gene_symbol": "ENSG00000255158",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.843+392A>G",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}