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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: 19-42199454-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=42199454&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DEDD2",
"hgnc_id": 24450,
"hgvs_c": "c.965C>T",
"hgvs_p": "p.Pro322Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_133328.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 33,
"alphamissense_prediction": null,
"alphamissense_score": 0.091,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.020745813846588135,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 981,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_133328.4",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "c.965C>T",
"hgvs_p": "p.Pro322Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000596251.6",
"protein_coding": true,
"protein_id": "NP_579874.1",
"strand": false,
"transcript": "NM_133328.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 981,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000596251.6",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "c.965C>T",
"hgvs_p": "p.Pro322Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_133328.4",
"protein_coding": true,
"protein_id": "ENSP00000471512.1",
"strand": false,
"transcript": "ENST00000596251.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 321,
"aa_ref": "P",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": 1026,
"cds_end": null,
"cds_length": 966,
"cds_start": 950,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000336034.8",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "c.950C>T",
"hgvs_p": "p.Pro317Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000336972.4",
"strand": false,
"transcript": "ENST00000336034.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1920,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 981,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001270614.2",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "c.965C>T",
"hgvs_p": "p.Pro322Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257543.1",
"strand": false,
"transcript": "NM_001270614.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1894,
"cdna_start": 1053,
"cds_end": null,
"cds_length": 981,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000595337.5",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "c.965C>T",
"hgvs_p": "p.Pro322Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470082.1",
"strand": false,
"transcript": "ENST00000595337.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 981,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000898289.1",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "c.965C>T",
"hgvs_p": "p.Pro322Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568348.1",
"strand": false,
"transcript": "ENST00000898289.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1885,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 981,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898291.1",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "c.965C>T",
"hgvs_p": "p.Pro322Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568350.1",
"strand": false,
"transcript": "ENST00000898291.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1921,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 981,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898292.1",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "c.965C>T",
"hgvs_p": "p.Pro322Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568351.1",
"strand": false,
"transcript": "ENST00000898292.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2028,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 981,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898293.1",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "c.965C>T",
"hgvs_p": "p.Pro322Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568352.1",
"strand": false,
"transcript": "ENST00000898293.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1939,
"cdna_start": 1085,
"cds_end": null,
"cds_length": 981,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948092.1",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "c.965C>T",
"hgvs_p": "p.Pro322Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618151.1",
"strand": false,
"transcript": "ENST00000948092.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 321,
"aa_ref": "P",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 1034,
"cds_end": null,
"cds_length": 966,
"cds_start": 950,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001270615.2",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "c.950C>T",
"hgvs_p": "p.Pro317Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257544.1",
"strand": false,
"transcript": "NM_001270615.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 321,
"aa_ref": "P",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 966,
"cds_start": 950,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898287.1",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "c.950C>T",
"hgvs_p": "p.Pro317Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568346.1",
"strand": false,
"transcript": "ENST00000898287.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 321,
"aa_ref": "P",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 1345,
"cds_end": null,
"cds_length": 966,
"cds_start": 950,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000898294.1",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "c.950C>T",
"hgvs_p": "p.Pro317Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568353.1",
"strand": false,
"transcript": "ENST00000898294.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 286,
"aa_ref": "P",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1787,
"cdna_start": 934,
"cds_end": null,
"cds_length": 861,
"cds_start": 845,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000898290.1",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "c.845C>T",
"hgvs_p": "p.Pro282Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568349.1",
"strand": false,
"transcript": "ENST00000898290.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 279,
"aa_ref": "P",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": 947,
"cds_end": null,
"cds_length": 840,
"cds_start": 824,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000898288.1",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Pro275Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568347.1",
"strand": false,
"transcript": "ENST00000898288.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 366,
"aa_ref": "P",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": 1184,
"cds_end": null,
"cds_length": 1101,
"cds_start": 1085,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017026402.2",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "c.1085C>T",
"hgvs_p": "p.Pro362Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881891.1",
"strand": false,
"transcript": "XM_017026402.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2142,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 981,
"cds_start": 965,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047438313.1",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "c.965C>T",
"hgvs_p": "p.Pro322Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294269.1",
"strand": false,
"transcript": "XM_047438313.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 299,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2216,
"cdna_start": null,
"cds_end": null,
"cds_length": 900,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047438314.1",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "c.*163C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294270.1",
"strand": false,
"transcript": "XM_047438314.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 256,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1927,
"cdna_start": null,
"cds_end": null,
"cds_length": 771,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011526572.2",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "c.*216C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524874.1",
"strand": false,
"transcript": "XM_011526572.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 256,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1942,
"cdna_start": null,
"cds_end": null,
"cds_length": 771,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047438315.1",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "c.*216C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294271.1",
"strand": false,
"transcript": "XM_047438315.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1586,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000593804.5",
"gene_hgnc_id": 24450,
"gene_symbol": "DEDD2",
"hgvs_c": "n.748C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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