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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: 16-27344896-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=27344896&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "IL4R",
"hgnc_id": 6015,
"hgvs_c": "c.-239C>T",
"hgvs_p": null,
"inheritance_mode": "Unknown",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001257997.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 2427,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "16",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 825,
"aa_ref": "N",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 435,
"cds_end": null,
"cds_length": 2478,
"cds_start": 237,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_000418.4",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.237C>T",
"hgvs_p": "p.Asn79Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000395762.7",
"protein_coding": true,
"protein_id": "NP_000409.1",
"strand": true,
"transcript": "NM_000418.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 825,
"aa_ref": "N",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 435,
"cds_end": null,
"cds_length": 2478,
"cds_start": 237,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000395762.7",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.237C>T",
"hgvs_p": "p.Asn79Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000418.4",
"protein_coding": true,
"protein_id": "ENSP00000379111.2",
"strand": true,
"transcript": "ENST00000395762.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 825,
"aa_ref": "N",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3539,
"cdna_start": 350,
"cds_end": null,
"cds_length": 2478,
"cds_start": 237,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000543915.6",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.237C>T",
"hgvs_p": "p.Asn79Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441667.2",
"strand": true,
"transcript": "ENST00000543915.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 665,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": null,
"cds_end": null,
"cds_length": 1998,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001257997.2",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.-239C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244926.1",
"strand": true,
"transcript": "NM_001257997.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 736,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3360,
"cdna_start": null,
"cds_end": null,
"cds_length": 2211,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011545828.3",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.-31C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544130.1",
"strand": true,
"transcript": "XM_011545828.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 684,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3210,
"cdna_start": null,
"cds_end": null,
"cds_length": 2055,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011545834.3",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.-35C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544136.1",
"strand": true,
"transcript": "XM_011545834.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 726,
"aa_ref": "T",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3293,
"cdna_start": 256,
"cds_end": null,
"cds_length": 2181,
"cds_start": 92,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011545833.2",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Thr31Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544135.1",
"strand": true,
"transcript": "XM_011545833.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 726,
"aa_ref": "T",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3292,
"cdna_start": 255,
"cds_end": null,
"cds_length": 2181,
"cds_start": 92,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047434068.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.92C>T",
"hgvs_p": "p.Thr31Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290024.1",
"strand": true,
"transcript": "XM_047434068.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 832,
"aa_ref": "N",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3577,
"cdna_start": 388,
"cds_end": null,
"cds_length": 2499,
"cds_start": 258,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000912076.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.258C>T",
"hgvs_p": "p.Asn86Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582135.1",
"strand": true,
"transcript": "ENST00000912076.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 825,
"aa_ref": "N",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3491,
"cdna_start": 302,
"cds_end": null,
"cds_length": 2478,
"cds_start": 237,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001257406.2",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.237C>T",
"hgvs_p": "p.Asn79Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244335.1",
"strand": true,
"transcript": "NM_001257406.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 825,
"aa_ref": "N",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3933,
"cdna_start": 744,
"cds_end": null,
"cds_length": 2478,
"cds_start": 237,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000856359.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.237C>T",
"hgvs_p": "p.Asn79Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526418.1",
"strand": true,
"transcript": "ENST00000856359.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 825,
"aa_ref": "N",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3566,
"cdna_start": 377,
"cds_end": null,
"cds_length": 2478,
"cds_start": 237,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856360.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.237C>T",
"hgvs_p": "p.Asn79Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526419.1",
"strand": true,
"transcript": "ENST00000856360.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 825,
"aa_ref": "N",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3862,
"cdna_start": 674,
"cds_end": null,
"cds_length": 2478,
"cds_start": 237,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000856361.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.237C>T",
"hgvs_p": "p.Asn79Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526420.1",
"strand": true,
"transcript": "ENST00000856361.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 825,
"aa_ref": "N",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3994,
"cdna_start": 807,
"cds_end": null,
"cds_length": 2478,
"cds_start": 237,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000856362.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.237C>T",
"hgvs_p": "p.Asn79Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526421.1",
"strand": true,
"transcript": "ENST00000856362.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 825,
"aa_ref": "N",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3864,
"cdna_start": 675,
"cds_end": null,
"cds_length": 2478,
"cds_start": 237,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000856363.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.237C>T",
"hgvs_p": "p.Asn79Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526422.1",
"strand": true,
"transcript": "ENST00000856363.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 825,
"aa_ref": "N",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3972,
"cdna_start": 783,
"cds_end": null,
"cds_length": 2478,
"cds_start": 237,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000856364.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.237C>T",
"hgvs_p": "p.Asn79Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526423.1",
"strand": true,
"transcript": "ENST00000856364.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 825,
"aa_ref": "N",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3936,
"cdna_start": 747,
"cds_end": null,
"cds_length": 2478,
"cds_start": 237,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000856365.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.237C>T",
"hgvs_p": "p.Asn79Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526424.1",
"strand": true,
"transcript": "ENST00000856365.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 825,
"aa_ref": "N",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3749,
"cdna_start": 561,
"cds_end": null,
"cds_length": 2478,
"cds_start": 237,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000856366.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.237C>T",
"hgvs_p": "p.Asn79Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526425.1",
"strand": true,
"transcript": "ENST00000856366.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 825,
"aa_ref": "N",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3926,
"cdna_start": 739,
"cds_end": null,
"cds_length": 2478,
"cds_start": 237,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000856367.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.237C>T",
"hgvs_p": "p.Asn79Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526426.1",
"strand": true,
"transcript": "ENST00000856367.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 825,
"aa_ref": "N",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3940,
"cdna_start": 751,
"cds_end": null,
"cds_length": 2478,
"cds_start": 237,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000856368.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.237C>T",
"hgvs_p": "p.Asn79Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526427.1",
"strand": true,
"transcript": "ENST00000856368.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 825,
"aa_ref": "N",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3857,
"cdna_start": 668,
"cds_end": null,
"cds_length": 2478,
"cds_start": 237,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000856369.1",
"gene_hgnc_id": 6015,
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