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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: 13-52712866-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=52712866&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 52712866,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007015.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Gly158Ser",
"transcript": "NM_007015.3",
"protein_id": "NP_008946.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 334,
"cds_start": 472,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377962.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007015.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Gly158Ser",
"transcript": "ENST00000377962.8",
"protein_id": "ENSP00000367198.3",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 334,
"cds_start": 472,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007015.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377962.8"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Gly158Ser",
"transcript": "ENST00000448904.6",
"protein_id": "ENSP00000388576.2",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 333,
"cds_start": 472,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448904.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Gly158Ser",
"transcript": "ENST00000863287.1",
"protein_id": "ENSP00000533346.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 338,
"cds_start": 472,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863287.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Gly158Ser",
"transcript": "ENST00000916466.1",
"protein_id": "ENSP00000586525.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 337,
"cds_start": 472,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916466.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Gly158Ser",
"transcript": "ENST00000916472.1",
"protein_id": "ENSP00000586531.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 336,
"cds_start": 472,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916472.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Gly158Ser",
"transcript": "NM_001011705.2",
"protein_id": "NP_001011705.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 333,
"cds_start": 472,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001011705.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Gly158Ser",
"transcript": "ENST00000916465.1",
"protein_id": "ENSP00000586524.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 332,
"cds_start": 472,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916465.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Gly145Ser",
"transcript": "ENST00000916473.1",
"protein_id": "ENSP00000586532.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 325,
"cds_start": 433,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916473.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Gly145Ser",
"transcript": "ENST00000916479.1",
"protein_id": "ENSP00000586538.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 321,
"cds_start": 433,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916479.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Gly145Ser",
"transcript": "ENST00000916480.1",
"protein_id": "ENSP00000586539.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 320,
"cds_start": 433,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916480.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Gly120Ser",
"transcript": "ENST00000916468.1",
"protein_id": "ENSP00000586527.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 300,
"cds_start": 358,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916468.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Gly120Ser",
"transcript": "ENST00000916471.1",
"protein_id": "ENSP00000586530.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 299,
"cds_start": 358,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916471.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Gly120Ser",
"transcript": "ENST00000916477.1",
"protein_id": "ENSP00000586536.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 298,
"cds_start": 358,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916477.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Gly120Ser",
"transcript": "ENST00000916469.1",
"protein_id": "ENSP00000586528.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 295,
"cds_start": 358,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916469.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Gly111Ser",
"transcript": "ENST00000916476.1",
"protein_id": "ENSP00000586535.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 291,
"cds_start": 331,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916476.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Gly111Ser",
"transcript": "ENST00000916464.1",
"protein_id": "ENSP00000586523.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 287,
"cds_start": 331,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916464.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Gly111Ser",
"transcript": "ENST00000916475.1",
"protein_id": "ENSP00000586534.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 287,
"cds_start": 331,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916475.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.331G>A",
"hgvs_p": "p.Gly111Ser",
"transcript": "ENST00000916467.1",
"protein_id": "ENSP00000586526.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 286,
"cds_start": 331,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916467.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.217G>A",
"hgvs_p": "p.Gly73Ser",
"transcript": "ENST00000916474.1",
"protein_id": "ENSP00000586533.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 253,
"cds_start": 217,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916474.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.238G>A",
"hgvs_p": "p.Gly80Ser",
"transcript": "ENST00000431550.1",
"protein_id": "ENSP00000396035.1",
"transcript_support_level": 2,
"aa_start": 80,
"aa_end": null,
"aa_length": 128,
"cds_start": 238,
"cds_end": null,
"cds_length": 388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431550.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNMD",
"gene_hgnc_id": 17005,
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Gly185Ser",
"transcript": "XM_011534897.3",
"protein_id": "XP_011533199.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 365,
"cds_start": 553,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534897.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
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],
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"dbsnp": "rs1466063982",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.14485e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.4694614112377167,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
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"effects": [
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],
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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
}