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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: 17-43047688-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=43047688&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 43047688,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000357654.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5422G>T",
"hgvs_p": "p.Val1808Leu",
"transcript": "NM_007294.4",
"protein_id": "NP_009225.1",
"transcript_support_level": null,
"aa_start": 1808,
"aa_end": null,
"aa_length": 1863,
"cds_start": 5422,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 5535,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": "ENST00000357654.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5422G>T",
"hgvs_p": "p.Val1808Leu",
"transcript": "ENST00000357654.9",
"protein_id": "ENSP00000350283.3",
"transcript_support_level": 1,
"aa_start": 1808,
"aa_end": null,
"aa_length": 1863,
"cds_start": 5422,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 5535,
"cdna_end": null,
"cdna_length": 7088,
"mane_select": "NM_007294.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5485G>T",
"hgvs_p": "p.Val1829Leu",
"transcript": "ENST00000471181.7",
"protein_id": "ENSP00000418960.2",
"transcript_support_level": 1,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1884,
"cds_start": 5485,
"cds_end": null,
"cds_length": 5655,
"cdna_start": 5717,
"cdna_end": null,
"cdna_length": 7270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5422G>T",
"hgvs_p": "p.Val1808Leu",
"transcript": "ENST00000470026.6",
"protein_id": "ENSP00000419274.2",
"transcript_support_level": 1,
"aa_start": 1808,
"aa_end": null,
"aa_length": 1863,
"cds_start": 5422,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 5603,
"cdna_end": null,
"cdna_length": 7147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5422G>T",
"hgvs_p": "p.Val1808Leu",
"transcript": "ENST00000494123.6",
"protein_id": "ENSP00000419103.2",
"transcript_support_level": 1,
"aa_start": 1808,
"aa_end": null,
"aa_length": 1863,
"cds_start": 5422,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 5615,
"cdna_end": null,
"cdna_length": 7168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5422G>T",
"hgvs_p": "p.Val1808Leu",
"transcript": "ENST00000618469.2",
"protein_id": "ENSP00000478114.2",
"transcript_support_level": 1,
"aa_start": 1808,
"aa_end": null,
"aa_length": 1863,
"cds_start": 5422,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 6069,
"cdna_end": null,
"cdna_length": 7613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5344G>T",
"hgvs_p": "p.Val1782Leu",
"transcript": "ENST00000477152.6",
"protein_id": "ENSP00000419988.2",
"transcript_support_level": 1,
"aa_start": 1782,
"aa_end": null,
"aa_length": 1837,
"cds_start": 5344,
"cds_end": null,
"cds_length": 5514,
"cdna_start": 5457,
"cdna_end": null,
"cdna_length": 7010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.4534G>T",
"hgvs_p": "p.Val1512Leu",
"transcript": "ENST00000497488.2",
"protein_id": "ENSP00000418986.2",
"transcript_support_level": 1,
"aa_start": 1512,
"aa_end": null,
"aa_length": 1567,
"cds_start": 4534,
"cds_end": null,
"cds_length": 4704,
"cdna_start": 4782,
"cdna_end": null,
"cdna_length": 6335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.2110G>T",
"hgvs_p": "p.Val704Leu",
"transcript": "ENST00000478531.6",
"protein_id": "ENSP00000420412.2",
"transcript_support_level": 1,
"aa_start": 704,
"aa_end": null,
"aa_length": 759,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2212,
"cdna_end": null,
"cdna_length": 3765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.2036G>T",
"hgvs_p": "p.Cys679Phe",
"transcript": "ENST00000468300.5",
"protein_id": "ENSP00000417148.1",
"transcript_support_level": 1,
"aa_start": 679,
"aa_end": null,
"aa_length": 699,
"cds_start": 2036,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2230,
"cdna_end": null,
"cdna_length": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"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": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.895G>T",
"hgvs_p": "p.Val299Leu",
"transcript": "ENST00000591534.5",
"protein_id": "ENSP00000467329.1",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 354,
"cds_start": 895,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 1282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.352G>T",
"hgvs_p": "p.Val118Leu",
"transcript": "ENST00000586385.5",
"protein_id": "ENSP00000465818.1",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 173,
"cds_start": 352,
"cds_end": null,
"cds_length": 522,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.121G>T",
"hgvs_p": "p.Val41Leu",
"transcript": "ENST00000591849.5",
"protein_id": "ENSP00000465347.1",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 96,
"cds_start": 121,
"cds_end": null,
"cds_length": 291,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 563,
"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": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "n.*5205G>T",
"hgvs_p": null,
"transcript": "ENST00000461221.5",
"protein_id": "ENSP00000418548.1",
"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": 5693,
"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": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "n.*5205G>T",
"hgvs_p": null,
"transcript": "ENST00000461221.5",
"protein_id": "ENSP00000418548.1",
"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": 5693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5488G>T",
"hgvs_p": "p.Val1830Leu",
"transcript": "NM_001407581.1",
"protein_id": "NP_001394510.1",
"transcript_support_level": null,
"aa_start": 1830,
"aa_end": null,
"aa_length": 1885,
"cds_start": 5488,
"cds_end": null,
"cds_length": 5658,
"cdna_start": 5601,
"cdna_end": null,
"cdna_length": 7154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5488G>T",
"hgvs_p": "p.Val1830Leu",
"transcript": "NM_001407582.1",
"protein_id": "NP_001394511.1",
"transcript_support_level": null,
"aa_start": 1830,
"aa_end": null,
"aa_length": 1885,
"cds_start": 5488,
"cds_end": null,
"cds_length": 5658,
"cdna_start": 5690,
"cdna_end": null,
"cdna_length": 7243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5488G>T",
"hgvs_p": "p.Val1830Leu",
"transcript": "ENST00000644379.2",
"protein_id": "ENSP00000496570.2",
"transcript_support_level": null,
"aa_start": 1830,
"aa_end": null,
"aa_length": 1885,
"cds_start": 5488,
"cds_end": null,
"cds_length": 5658,
"cdna_start": 5601,
"cdna_end": null,
"cdna_length": 6363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5485G>T",
"hgvs_p": "p.Val1829Leu",
"transcript": "NM_001407583.1",
"protein_id": "NP_001394512.1",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1884,
"cds_start": 5485,
"cds_end": null,
"cds_length": 5655,
"cdna_start": 6132,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5485G>T",
"hgvs_p": "p.Val1829Leu",
"transcript": "NM_001407585.1",
"protein_id": "NP_001394514.1",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1884,
"cds_start": 5485,
"cds_end": null,
"cds_length": 5655,
"cdna_start": 5585,
"cdna_end": null,
"cdna_length": 7138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5485G>T",
"hgvs_p": "p.Val1829Leu",
"transcript": "NM_001407587.1",
"protein_id": "NP_001394516.1",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1884,
"cds_start": 5485,
"cds_end": null,
"cds_length": 5655,
"cdna_start": 5592,
"cdna_end": null,
"cdna_length": 7145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"hgvs_c": "c.5485G>T",
"hgvs_p": "p.Val1829Leu",
"transcript": "NM_007300.4",
"protein_id": "NP_009231.2",
"transcript_support_level": null,
"aa_start": 1829,
"aa_end": null,
"aa_length": 1884,
"cds_start": 5485,
"cds_end": null,
"cds_length": 5655,
"cdna_start": 5598,
"cdna_end": null,
"cdna_length": 7151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
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"gene_symbol": "BRCA1",
"gene_hgnc_id": 1100,
"dbsnp": "rs1555574756",
"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": 0.8197046518325806,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.668,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3761,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.634,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.13,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP3",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000357654.9",
"gene_symbol": "BRCA1",
"hgnc_id": 1100,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.5422G>T",
"hgvs_p": "p.Val1808Leu"
}
],
"clinvar_disease": " 1, familial, susceptibility to,Breast-ovarian cancer,Familial cancer of breast,Hereditary breast ovarian cancer syndrome,Hereditary cancer-predisposing syndrome",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:1",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 1|Familial cancer of breast",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}