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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: 2-214728898-ACT-TCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=214728898&ref=ACT&alt=TCC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "BARD1",
"hgnc_id": 952,
"hgvs_c": "c.2110_2112delAGTinsGGA",
"hgvs_p": "p.Ser704Gly",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_000465.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 777,
"aa_ref": "S",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5478,
"cdna_start": 2226,
"cds_end": null,
"cds_length": 2334,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000465.4",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "c.2110_2112delAGTinsGGA",
"hgvs_p": "p.Ser704Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000260947.9",
"protein_coding": true,
"protein_id": "NP_000456.2",
"strand": false,
"transcript": "NM_000465.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 777,
"aa_ref": "S",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5478,
"cdna_start": 2226,
"cds_end": null,
"cds_length": 2334,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000260947.9",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "c.2110_2112delAGTinsGGA",
"hgvs_p": "p.Ser704Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000465.4",
"protein_coding": true,
"protein_id": "ENSP00000260947.4",
"strand": false,
"transcript": "ENST00000260947.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 758,
"aa_ref": "S",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2473,
"cdna_start": 2128,
"cds_end": null,
"cds_length": 2277,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000617164.5",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "c.2053_2055delAGTinsGGA",
"hgvs_p": "p.Ser685Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480470.1",
"strand": false,
"transcript": "ENST00000617164.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 641,
"aa_ref": "S",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2131,
"cdna_start": 1818,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1702,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000613706.5",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "c.1702_1704delAGTinsGGA",
"hgvs_p": "p.Ser568Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484976.2",
"strand": false,
"transcript": "ENST00000613706.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 307,
"aa_ref": "S",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1111,
"cdna_start": 775,
"cds_end": null,
"cds_length": 924,
"cds_start": 700,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000613374.5",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "c.700_702delAGTinsGGA",
"hgvs_p": "p.Ser234Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484464.1",
"strand": false,
"transcript": "ENST00000613374.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 264,
"aa_ref": "S",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 946,
"cdna_start": 601,
"cds_end": null,
"cds_length": 795,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000619009.5",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "c.571_573delAGTinsGGA",
"hgvs_p": "p.Ser191Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482293.1",
"strand": false,
"transcript": "ENST00000619009.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 921,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000471590.5",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "n.445_447delAGTinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000471590.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 703,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000613192.2",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "n.*173_*175delAGTinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000483275.2",
"strand": false,
"transcript": "ENST00000613192.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 703,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000613192.2",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "n.*173_*175delAGTinsGGA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000483275.2",
"strand": false,
"transcript": "ENST00000613192.2",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 810,
"aa_ref": "S",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2686,
"cdna_start": 2325,
"cds_end": null,
"cds_length": 2433,
"cds_start": 2209,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915566.1",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "c.2209_2211delAGTinsGGA",
"hgvs_p": "p.Ser737Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585625.1",
"strand": false,
"transcript": "ENST00000915566.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 778,
"aa_ref": "S",
"aa_start": 705,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2613,
"cdna_start": 2253,
"cds_end": null,
"cds_length": 2337,
"cds_start": 2113,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887324.1",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "c.2113_2115delAGTinsGGA",
"hgvs_p": "p.Ser705Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557383.1",
"strand": false,
"transcript": "ENST00000887324.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 767,
"aa_ref": "S",
"aa_start": 694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2572,
"cdna_start": 2212,
"cds_end": null,
"cds_length": 2304,
"cds_start": 2080,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915565.1",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "c.2080_2082delAGTinsGGA",
"hgvs_p": "p.Ser694Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585624.1",
"strand": false,
"transcript": "ENST00000915565.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 758,
"aa_ref": "S",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5421,
"cdna_start": 2169,
"cds_end": null,
"cds_length": 2277,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282543.2",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "c.2053_2055delAGTinsGGA",
"hgvs_p": "p.Ser685Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269472.1",
"strand": false,
"transcript": "NM_001282543.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 707,
"aa_ref": "S",
"aa_start": 634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4257,
"cdna_start": 1991,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1900,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915563.1",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "c.1900_1902delAGTinsGGA",
"hgvs_p": "p.Ser634Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585622.1",
"strand": false,
"transcript": "ENST00000915563.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 496,
"aa_ref": "S",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 1399,
"cds_end": null,
"cds_length": 1491,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915564.1",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "c.1267_1269delAGTinsGGA",
"hgvs_p": "p.Ser423Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585623.1",
"strand": false,
"transcript": "ENST00000915564.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4125,
"cdna_start": 873,
"cds_end": null,
"cds_length": 981,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282545.2",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "c.757_759delAGTinsGGA",
"hgvs_p": "p.Ser253Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269474.1",
"strand": false,
"transcript": "NM_001282545.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1010,
"cdna_start": 787,
"cds_end": null,
"cds_length": 981,
"cds_start": 757,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000421162.2",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "c.757_759delAGTinsGGA",
"hgvs_p": "p.Ser253Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392245.2",
"strand": false,
"transcript": "ENST00000421162.2",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 307,
"aa_ref": "S",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4068,
"cdna_start": 816,
"cds_end": null,
"cds_length": 924,
"cds_start": 700,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282548.2",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "c.700_702delAGTinsGGA",
"hgvs_p": "p.Ser234Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269477.1",
"strand": false,
"transcript": "NM_001282548.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 264,
"aa_ref": "S",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3939,
"cdna_start": 687,
"cds_end": null,
"cds_length": 795,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282549.2",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "c.571_573delAGTinsGGA",
"hgvs_p": "p.Ser191Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269478.1",
"strand": false,
"transcript": "NM_001282549.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 810,
"aa_ref": "S",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5577,
"cdna_start": 2325,
"cds_end": null,
"cds_length": 2433,
"cds_start": 2209,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017004613.2",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "c.2209_2211delAGTinsGGA",
"hgvs_p": "p.Ser737Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016860102.1",
"strand": false,
"transcript": "XM_017004613.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 43,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 615,
"cdna_start": null,
"cds_end": null,
"cds_length": 132,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000432456.5",
"gene_hgnc_id": 952,
"gene_symbol": "BARD1",
"hgvs_c": "c.*119_*121delAGTinsGGA",
"hgvs_p": null,
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