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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: 1-196737547-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=196737547&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CFH",
"hgnc_id": 4883,
"hgvs_c": "c.2669G>T",
"hgvs_p": "p.Ser890Ile",
"inheritance_mode": "AR,AD,SD,Unknown",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_000186.4",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000289697",
"hgnc_id": null,
"hgvs_c": "c.2669G>T",
"hgvs_p": "p.Ser890Ile",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000696032.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 19201,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0949,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": " 1, atypical, susceptibility to,Age related macular degeneration 4,Atypical hemolytic-uremic syndrome,Basal laminar drusen,CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II,Factor H deficiency,Hemolytic uremic syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:12",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0057353973388671875,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1231,
"aa_ref": "S",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3962,
"cdna_start": 2744,
"cds_end": null,
"cds_length": 3696,
"cds_start": 2669,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_000186.4",
"gene_hgnc_id": 4883,
"gene_symbol": "CFH",
"hgvs_c": "c.2669G>T",
"hgvs_p": "p.Ser890Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367429.9",
"protein_coding": true,
"protein_id": "NP_000177.2",
"strand": true,
"transcript": "NM_000186.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1231,
"aa_ref": "S",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3962,
"cdna_start": 2744,
"cds_end": null,
"cds_length": 3696,
"cds_start": 2669,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000367429.9",
"gene_hgnc_id": 4883,
"gene_symbol": "CFH",
"hgvs_c": "c.2669G>T",
"hgvs_p": "p.Ser890Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000186.4",
"protein_coding": true,
"protein_id": "ENSP00000356399.4",
"strand": true,
"transcript": "ENST00000367429.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1504,
"aa_ref": "S",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6661,
"cdna_start": 2935,
"cds_end": null,
"cds_length": 4515,
"cds_start": 2669,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000696032.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000289697",
"hgvs_c": "c.2669G>T",
"hgvs_p": "p.Ser890Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512341.1",
"strand": true,
"transcript": "ENST00000696032.1",
"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": 6985,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000466229.5",
"gene_hgnc_id": 4883,
"gene_symbol": "CFH",
"hgvs_c": "n.4685G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000466229.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "S",
"aa_start": 888,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4003,
"cdna_start": 2747,
"cds_end": null,
"cds_length": 3690,
"cds_start": 2663,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000696027.1",
"gene_hgnc_id": 4883,
"gene_symbol": "CFH",
"hgvs_c": "c.2663G>T",
"hgvs_p": "p.Ser888Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512336.1",
"strand": true,
"transcript": "ENST00000696027.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1229,
"aa_ref": "S",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4003,
"cdna_start": 2753,
"cds_end": null,
"cds_length": 3690,
"cds_start": 2669,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000696029.1",
"gene_hgnc_id": 4883,
"gene_symbol": "CFH",
"hgvs_c": "c.2669G>T",
"hgvs_p": "p.Ser890Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512338.1",
"strand": true,
"transcript": "ENST00000696029.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "S",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4132,
"cdna_start": 2914,
"cds_end": null,
"cds_length": 3675,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000695971.1",
"gene_hgnc_id": 4883,
"gene_symbol": "CFH",
"hgvs_c": "c.2648G>T",
"hgvs_p": "p.Ser883Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512298.1",
"strand": true,
"transcript": "ENST00000695971.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "S",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3940,
"cdna_start": 2730,
"cds_end": null,
"cds_length": 3675,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000883403.1",
"gene_hgnc_id": 4883,
"gene_symbol": "CFH",
"hgvs_c": "c.2648G>T",
"hgvs_p": "p.Ser883Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553462.1",
"strand": true,
"transcript": "ENST00000883403.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1222,
"aa_ref": "S",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3918,
"cdna_start": 2714,
"cds_end": null,
"cds_length": 3669,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000883411.1",
"gene_hgnc_id": 4883,
"gene_symbol": "CFH",
"hgvs_c": "c.2648G>T",
"hgvs_p": "p.Ser883Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553470.1",
"strand": true,
"transcript": "ENST00000883411.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "S",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4042,
"cdna_start": 2901,
"cds_end": null,
"cds_length": 3627,
"cds_start": 2669,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000883397.1",
"gene_hgnc_id": 4883,
"gene_symbol": "CFH",
"hgvs_c": "c.2669G>T",
"hgvs_p": "p.Ser890Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553456.1",
"strand": true,
"transcript": "ENST00000883397.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "S",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3937,
"cdna_start": 2753,
"cds_end": null,
"cds_length": 3624,
"cds_start": 2669,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000696028.1",
"gene_hgnc_id": 4883,
"gene_symbol": "CFH",
"hgvs_c": "c.2669G>T",
"hgvs_p": "p.Ser890Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512337.1",
"strand": true,
"transcript": "ENST00000696028.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1196,
"aa_ref": "S",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4105,
"cdna_start": 2789,
"cds_end": null,
"cds_length": 3591,
"cds_start": 2669,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000695981.1",
"gene_hgnc_id": 4883,
"gene_symbol": "CFH",
"hgvs_c": "c.2669G>T",
"hgvs_p": "p.Ser890Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512306.1",
"strand": true,
"transcript": "ENST00000695981.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1193,
"aa_ref": "S",
"aa_start": 852,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3821,
"cdna_start": 2611,
"cds_end": null,
"cds_length": 3582,
"cds_start": 2555,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000955310.1",
"gene_hgnc_id": 4883,
"gene_symbol": "CFH",
"hgvs_c": "c.2555G>T",
"hgvs_p": "p.Ser852Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625368.1",
"strand": true,
"transcript": "ENST00000955310.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1173,
"aa_ref": "S",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3979,
"cdna_start": 2935,
"cds_end": null,
"cds_length": 3522,
"cds_start": 2669,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000695970.1",
"gene_hgnc_id": 4883,
"gene_symbol": "CFH",
"hgvs_c": "c.2669G>T",
"hgvs_p": "p.Ser890Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512297.1",
"strand": true,
"transcript": "ENST00000695970.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "S",
"aa_start": 831,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3950,
"cdna_start": 2732,
"cds_end": null,
"cds_length": 3519,
"cds_start": 2492,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000695974.1",
"gene_hgnc_id": 4883,
"gene_symbol": "CFH",
"hgvs_c": "c.2492G>T",
"hgvs_p": "p.Ser831Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512301.1",
"strand": true,
"transcript": "ENST00000695974.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "S",
"aa_start": 829,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3814,
"cdna_start": 2565,
"cds_end": null,
"cds_length": 3513,
"cds_start": 2486,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000883399.1",
"gene_hgnc_id": 4883,
"gene_symbol": "CFH",
"hgvs_c": "c.2486G>T",
"hgvs_p": "p.Ser829Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553458.1",
"strand": true,
"transcript": "ENST00000883399.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "S",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3759,
"cdna_start": 2732,
"cds_end": null,
"cds_length": 3513,
"cds_start": 2669,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000883412.1",
"gene_hgnc_id": 4883,
"gene_symbol": "CFH",
"hgvs_c": "c.2669G>T",
"hgvs_p": "p.Ser890Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553471.1",
"strand": true,
"transcript": "ENST00000883412.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1168,
"aa_ref": "S",
"aa_start": 827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4118,
"cdna_start": 2900,
"cds_end": null,
"cds_length": 3507,
"cds_start": 2480,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000695976.1",
"gene_hgnc_id": 4883,
"gene_symbol": "CFH",
"hgvs_c": "c.2480G>T",
"hgvs_p": "p.Ser827Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512303.1",
"strand": true,
"transcript": "ENST00000695976.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1166,
"aa_ref": "S",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3768,
"cdna_start": 2732,
"cds_end": null,
"cds_length": 3501,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000955307.1",
"gene_hgnc_id": 4883,
"gene_symbol": "CFH",
"hgvs_c": "c.2648G>T",
"hgvs_p": "p.Ser883Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625366.1",
"strand": true,
"transcript": "ENST00000955307.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1114,
"aa_ref": "S",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3590,
"cdna_start": 2731,
"cds_end": null,
"cds_length": 3345,
"cds_start": 2669,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000883414.1",
"gene_hgnc_id": 4883,
"gene_symbol": "CFH",
"hgvs_c": "c.2669G>T",
"hgvs_p": "p.Ser890Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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}