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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: 22-28703505-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=28703505&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 28703505,
"ref": "A",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000404276.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.908T>G",
"hgvs_p": "p.Leu303Trp",
"transcript": "NM_007194.4",
"protein_id": "NP_009125.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 543,
"cds_start": 908,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1844,
"mane_select": "ENST00000404276.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.908T>G",
"hgvs_p": "p.Leu303Trp",
"transcript": "ENST00000404276.6",
"protein_id": "ENSP00000385747.1",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 543,
"cds_start": 908,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1844,
"mane_select": "NM_007194.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1037T>G",
"hgvs_p": "p.Leu346Trp",
"transcript": "ENST00000382580.6",
"protein_id": "ENSP00000372023.2",
"transcript_support_level": 1,
"aa_start": 346,
"aa_end": null,
"aa_length": 586,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.707T>G",
"hgvs_p": "p.Leu236Trp",
"transcript": "ENST00000402731.6",
"protein_id": "ENSP00000384835.2",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 476,
"cds_start": 707,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 1591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Leu212Trp",
"transcript": "ENST00000403642.5",
"protein_id": "ENSP00000384919.1",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 452,
"cds_start": 635,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "n.*398T>G",
"hgvs_p": null,
"transcript": "ENST00000416671.5",
"protein_id": "ENSP00000402225.1",
"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": 2560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "n.*398T>G",
"hgvs_p": null,
"transcript": "ENST00000416671.5",
"protein_id": "ENSP00000402225.1",
"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": 2560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1037T>G",
"hgvs_p": "p.Leu346Trp",
"transcript": "NM_001005735.3",
"protein_id": "NP_001005735.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 586,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1001T>G",
"hgvs_p": "p.Leu334Trp",
"transcript": "NM_001438293.1",
"protein_id": "NP_001425222.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 574,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 1938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1037T>G",
"hgvs_p": "p.Leu346Trp",
"transcript": "NM_001438294.1",
"protein_id": "NP_001425223.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 557,
"cds_start": 1037,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.1001T>G",
"hgvs_p": "p.Leu334Trp",
"transcript": "NM_001438295.1",
"protein_id": "NP_001425224.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 545,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 1851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.908T>G",
"hgvs_p": "p.Leu303Trp",
"transcript": "ENST00000405598.5",
"protein_id": "ENSP00000386087.1",
"transcript_support_level": 5,
"aa_start": 303,
"aa_end": null,
"aa_length": 543,
"cds_start": 908,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.908T>G",
"hgvs_p": "p.Leu303Trp",
"transcript": "ENST00000650281.1",
"protein_id": "ENSP00000497000.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 543,
"cds_start": 908,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 1923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.908T>G",
"hgvs_p": "p.Leu303Trp",
"transcript": "NM_145862.3",
"protein_id": "NP_665861.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 514,
"cds_start": 908,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.908T>G",
"hgvs_p": "p.Leu303Trp",
"transcript": "ENST00000348295.7",
"protein_id": "ENSP00000329012.5",
"transcript_support_level": 5,
"aa_start": 303,
"aa_end": null,
"aa_length": 514,
"cds_start": 908,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 980,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.707T>G",
"hgvs_p": "p.Leu236Trp",
"transcript": "NM_001349956.3",
"protein_id": "NP_001336885.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 476,
"cds_start": 707,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 1644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.248T>G",
"hgvs_p": "p.Leu83Trp",
"transcript": "ENST00000464581.6",
"protein_id": "ENSP00000483777.2",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 323,
"cds_start": 248,
"cds_end": null,
"cds_length": 972,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 1138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.245T>G",
"hgvs_p": "p.Leu82Trp",
"transcript": "NM_001257387.3",
"protein_id": "NP_001244316.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 245,
"cds_end": null,
"cds_length": 969,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 1959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.245T>G",
"hgvs_p": "p.Leu82Trp",
"transcript": "NM_001437942.1",
"protein_id": "NP_001424871.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 245,
"cds_end": null,
"cds_length": 969,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 1520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.245T>G",
"hgvs_p": "p.Leu82Trp",
"transcript": "ENST00000425190.7",
"protein_id": "ENSP00000390244.2",
"transcript_support_level": 5,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 245,
"cds_end": null,
"cds_length": 969,
"cdna_start": 632,
"cdna_end": null,
"cdna_length": 1510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.245T>G",
"hgvs_p": "p.Leu82Trp",
"transcript": "ENST00000649563.1",
"protein_id": "ENSP00000496928.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 245,
"cds_end": null,
"cds_length": 969,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 1224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK2",
"gene_hgnc_id": 16627,
"hgvs_c": "c.137T>G",
"hgvs_p": "p.Leu46Trp",
"transcript": "ENST00000434810.5",
"protein_id": "ENSP00000416721.1",
"transcript_support_level": 3,
"aa_start": 46,
"aa_end": null,
"aa_length": 275,
"cds_start": 137,
"cds_end": null,
"cds_length": 828,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
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}
],
"gene_symbol": "CHEK2",
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"dbsnp": "rs1233699096",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8105930089950562,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.35199999809265137,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.275,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.883,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
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"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000404276.6",
"gene_symbol": "CHEK2",
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"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.908T>G",
"hgvs_p": "p.Leu303Trp"
}
],
"clinvar_disease": "Familial cancer of breast,Hereditary cancer-predisposing syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Familial cancer of breast|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}