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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: 2-214728819-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=214728819&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 214728819,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000465.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.2191C>G",
"hgvs_p": "p.Arg731Gly",
"transcript": "NM_000465.4",
"protein_id": "NP_000456.2",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 777,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2305,
"cdna_end": null,
"cdna_length": 5478,
"mane_select": "ENST00000260947.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000465.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.2191C>G",
"hgvs_p": "p.Arg731Gly",
"transcript": "ENST00000260947.9",
"protein_id": "ENSP00000260947.4",
"transcript_support_level": 1,
"aa_start": 731,
"aa_end": null,
"aa_length": 777,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2305,
"cdna_end": null,
"cdna_length": 5478,
"mane_select": "NM_000465.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260947.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.2134C>G",
"hgvs_p": "p.Arg712Gly",
"transcript": "ENST00000617164.5",
"protein_id": "ENSP00000480470.1",
"transcript_support_level": 1,
"aa_start": 712,
"aa_end": null,
"aa_length": 758,
"cds_start": 2134,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2207,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617164.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1783C>G",
"hgvs_p": "p.Arg595Gly",
"transcript": "ENST00000613706.5",
"protein_id": "ENSP00000484976.2",
"transcript_support_level": 1,
"aa_start": 595,
"aa_end": null,
"aa_length": 641,
"cds_start": 1783,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613706.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.781C>G",
"hgvs_p": "p.Arg261Gly",
"transcript": "ENST00000613374.5",
"protein_id": "ENSP00000484464.1",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 307,
"cds_start": 781,
"cds_end": null,
"cds_length": 924,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613374.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.652C>G",
"hgvs_p": "p.Arg218Gly",
"transcript": "ENST00000619009.5",
"protein_id": "ENSP00000482293.1",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 264,
"cds_start": 652,
"cds_end": null,
"cds_length": 795,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619009.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.526C>G",
"hgvs_p": null,
"transcript": "ENST00000471590.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 921,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471590.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.*254C>G",
"hgvs_p": null,
"transcript": "ENST00000613192.2",
"protein_id": "ENSP00000483275.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 703,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000613192.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.*254C>G",
"hgvs_p": null,
"transcript": "ENST00000613192.2",
"protein_id": "ENSP00000483275.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 703,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000613192.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.2290C>G",
"hgvs_p": "p.Arg764Gly",
"transcript": "ENST00000915566.1",
"protein_id": "ENSP00000585625.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 810,
"cds_start": 2290,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2404,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915566.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.2194C>G",
"hgvs_p": "p.Arg732Gly",
"transcript": "ENST00000887324.1",
"protein_id": "ENSP00000557383.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 778,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2332,
"cdna_end": null,
"cdna_length": 2613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887324.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.2161C>G",
"hgvs_p": "p.Arg721Gly",
"transcript": "ENST00000915565.1",
"protein_id": "ENSP00000585624.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 767,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 2291,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915565.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.2134C>G",
"hgvs_p": "p.Arg712Gly",
"transcript": "NM_001282543.2",
"protein_id": "NP_001269472.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 758,
"cds_start": 2134,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2248,
"cdna_end": null,
"cdna_length": 5421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282543.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1981C>G",
"hgvs_p": "p.Arg661Gly",
"transcript": "ENST00000915563.1",
"protein_id": "ENSP00000585622.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 707,
"cds_start": 1981,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 2070,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915563.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.1348C>G",
"hgvs_p": "p.Arg450Gly",
"transcript": "ENST00000915564.1",
"protein_id": "ENSP00000585623.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 496,
"cds_start": 1348,
"cds_end": null,
"cds_length": 1491,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 1760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915564.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.838C>G",
"hgvs_p": "p.Arg280Gly",
"transcript": "NM_001282545.2",
"protein_id": "NP_001269474.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 326,
"cds_start": 838,
"cds_end": null,
"cds_length": 981,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282545.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.838C>G",
"hgvs_p": "p.Arg280Gly",
"transcript": "ENST00000421162.2",
"protein_id": "ENSP00000392245.2",
"transcript_support_level": 3,
"aa_start": 280,
"aa_end": null,
"aa_length": 326,
"cds_start": 838,
"cds_end": null,
"cds_length": 981,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 1010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421162.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.781C>G",
"hgvs_p": "p.Arg261Gly",
"transcript": "NM_001282548.2",
"protein_id": "NP_001269477.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 307,
"cds_start": 781,
"cds_end": null,
"cds_length": 924,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 4068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282548.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.652C>G",
"hgvs_p": "p.Arg218Gly",
"transcript": "NM_001282549.2",
"protein_id": "NP_001269478.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 264,
"cds_start": 652,
"cds_end": null,
"cds_length": 795,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 3939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282549.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.2290C>G",
"hgvs_p": "p.Arg764Gly",
"transcript": "XM_017004613.2",
"protein_id": "XP_016860102.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 810,
"cds_start": 2290,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2404,
"cdna_end": null,
"cdna_length": 5577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004613.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "c.*200C>G",
"hgvs_p": null,
"transcript": "ENST00000432456.5",
"protein_id": "ENSP00000405020.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 43,
"cds_start": null,
"cds_end": null,
"cds_length": 132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432456.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BARD1",
"gene_hgnc_id": 952,
"hgvs_c": "n.*1811C>G",
"hgvs_p": null,
"transcript": "ENST00000455743.5",
"protein_id": "ENSP00000412186.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2261,
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],
"gene_symbol": "BARD1",
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"dbsnp": "rs76744638",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 593,
"gnomad_exomes_af": 0.000194954,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008966922760009766,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.165,
"revel_prediction": "Benign",
"alphamissense_score": 0.2414,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.919,
"phylop100way_prediction": "Benign",
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
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"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000465.4",
"gene_symbol": "BARD1",
"hgnc_id": 952,
"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.2191C>G",
"hgvs_p": "p.Arg731Gly"
}
],
"clinvar_disease": "Breast and/or ovarian cancer,Familial cancer of breast,Hereditary breast ovarian cancer syndrome,Hereditary cancer,Hereditary cancer-predisposing syndrome,Malignant tumor of breast,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:10 B:5",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided|Malignant tumor of breast|not specified|Hereditary breast ovarian cancer syndrome|Breast and/or ovarian cancer|Hereditary cancer",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}