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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: 9-35075304-CCG-ACC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35075304&ref=CCG&alt=ACC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "FANCG",
"hgnc_id": 3588,
"hgvs_c": "c.1453_1455delCGGinsGGT",
"hgvs_p": "p.Arg485Gly",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_004629.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"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": 622,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2556,
"cdna_start": 1873,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1453,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004629.2",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1453_1455delCGGinsGGT",
"hgvs_p": "p.Arg485Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378643.8",
"protein_coding": true,
"protein_id": "NP_004620.1",
"strand": false,
"transcript": "NM_004629.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2556,
"cdna_start": 1873,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1453,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000378643.8",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1453_1455delCGGinsGGT",
"hgvs_p": "p.Arg485Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004629.2",
"protein_coding": true,
"protein_id": "ENSP00000367910.4",
"strand": false,
"transcript": "ENST00000378643.8",
"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": 2108,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000425676.5",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "n.*929_*931delCGGinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000412793.1",
"strand": false,
"transcript": "ENST00000425676.5",
"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": 2108,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000425676.5",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "n.*929_*931delCGGinsGGT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000412793.1",
"strand": false,
"transcript": "ENST00000425676.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2353,
"cdna_start": 1678,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1453,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000448890.2",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1453_1455delCGGinsGGT",
"hgvs_p": "p.Arg485Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409607.2",
"strand": false,
"transcript": "ENST00000448890.2",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2611,
"cdna_start": 1931,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1453,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881804.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1453_1455delCGGinsGGT",
"hgvs_p": "p.Arg485Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551863.1",
"strand": false,
"transcript": "ENST00000881804.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 620,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": 1857,
"cds_end": null,
"cds_length": 1863,
"cds_start": 1453,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000696710.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1453_1455delCGGinsGGT",
"hgvs_p": "p.Arg485Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512826.1",
"strand": false,
"transcript": "ENST00000696710.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 619,
"aa_ref": "R",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2539,
"cdna_start": 1856,
"cds_end": null,
"cds_length": 1860,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938586.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1444_1446delCGGinsGGT",
"hgvs_p": "p.Arg482Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608645.1",
"strand": false,
"transcript": "ENST00000938586.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 616,
"aa_ref": "R",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5059,
"cdna_start": 4357,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1435,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960438.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1435_1437delCGGinsGGT",
"hgvs_p": "p.Arg479Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630497.1",
"strand": false,
"transcript": "ENST00000960438.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 615,
"aa_ref": "R",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2532,
"cdna_start": 1851,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1432,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881805.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1432_1434delCGGinsGGT",
"hgvs_p": "p.Arg478Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551864.1",
"strand": false,
"transcript": "ENST00000881805.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 615,
"aa_ref": "R",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2255,
"cdna_start": 1576,
"cds_end": null,
"cds_length": 1848,
"cds_start": 1435,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960443.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1435_1437delCGGinsGGT",
"hgvs_p": "p.Arg479Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630502.1",
"strand": false,
"transcript": "ENST00000960443.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 587,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2528,
"cdna_start": 1857,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1453,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000696715.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1453_1455delCGGinsGGT",
"hgvs_p": "p.Arg485Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512828.1",
"strand": false,
"transcript": "ENST00000696715.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 585,
"aa_ref": "R",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2065,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 1758,
"cds_start": 1342,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881807.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1342_1344delCGGinsGGT",
"hgvs_p": "p.Arg448Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551866.1",
"strand": false,
"transcript": "ENST00000881807.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 574,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2411,
"cdna_start": 1872,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1453,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960441.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1453_1455delCGGinsGGT",
"hgvs_p": "p.Arg485Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630500.1",
"strand": false,
"transcript": "ENST00000960441.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 573,
"aa_ref": "R",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 1539,
"cds_end": null,
"cds_length": 1722,
"cds_start": 1306,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000881806.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1306_1308delCGGinsGGT",
"hgvs_p": "p.Arg436Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551865.1",
"strand": false,
"transcript": "ENST00000881806.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 570,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 1926,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1453,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960439.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1453_1455delCGGinsGGT",
"hgvs_p": "p.Arg485Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630498.1",
"strand": false,
"transcript": "ENST00000960439.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 564,
"aa_ref": "R",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 1669,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1435,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960442.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.1435_1437delCGGinsGGT",
"hgvs_p": "p.Arg479Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630501.1",
"strand": false,
"transcript": "ENST00000960442.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 448,
"aa_ref": "R",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2035,
"cdna_start": 1352,
"cds_end": null,
"cds_length": 1347,
"cds_start": 931,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960440.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "c.931_933delCGGinsGGT",
"hgvs_p": "p.Arg311Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630499.1",
"strand": false,
"transcript": "ENST00000960440.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4078,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000461149.2",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "n.2645_2647delCGGinsGGT",
"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": "ENST00000461149.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 592,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000481254.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
"hgvs_c": "n.65_67delCGGinsGGT",
"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": "ENST00000481254.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3976,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000696700.1",
"gene_hgnc_id": 3588,
"gene_symbol": "FANCG",
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