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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: 7-141601206-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=141601206&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "AGK",
"hgnc_id": 21869,
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Lys75Glu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_018238.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.3434,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "AGK-related disorder",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5416626334190369,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 422,
"aa_ref": "K",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3628,
"cdna_start": 262,
"cds_end": null,
"cds_length": 1269,
"cds_start": 223,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_018238.4",
"gene_hgnc_id": 21869,
"gene_symbol": "AGK",
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Lys75Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000649286.2",
"protein_coding": true,
"protein_id": "NP_060708.1",
"strand": true,
"transcript": "NM_018238.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 422,
"aa_ref": "K",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3628,
"cdna_start": 262,
"cds_end": null,
"cds_length": 1269,
"cds_start": 223,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000649286.2",
"gene_hgnc_id": 21869,
"gene_symbol": "AGK",
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Lys75Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018238.4",
"protein_coding": true,
"protein_id": "ENSP00000497280.1",
"strand": true,
"transcript": "ENST00000649286.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 454,
"aa_ref": "K",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4179,
"cdna_start": 1699,
"cds_end": null,
"cds_length": 1365,
"cds_start": 223,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000912229.1",
"gene_hgnc_id": 21869,
"gene_symbol": "AGK",
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Lys75Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582288.1",
"strand": true,
"transcript": "ENST00000912229.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 430,
"aa_ref": "K",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2282,
"cdna_start": 237,
"cds_end": null,
"cds_length": 1293,
"cds_start": 223,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909108.1",
"gene_hgnc_id": 21869,
"gene_symbol": "AGK",
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Lys75Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579167.1",
"strand": true,
"transcript": "ENST00000909108.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 422,
"aa_ref": "K",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2256,
"cdna_start": 303,
"cds_end": null,
"cds_length": 1269,
"cds_start": 223,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000648068.1",
"gene_hgnc_id": 21869,
"gene_symbol": "AGK",
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Lys75Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498112.1",
"strand": true,
"transcript": "ENST00000648068.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 422,
"aa_ref": "K",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2472,
"cdna_start": 292,
"cds_end": null,
"cds_length": 1269,
"cds_start": 223,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000650547.1",
"gene_hgnc_id": 21869,
"gene_symbol": "AGK",
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Lys75Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496789.1",
"strand": true,
"transcript": "ENST00000650547.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 422,
"aa_ref": "K",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2579,
"cdna_start": 454,
"cds_end": null,
"cds_length": 1269,
"cds_start": 223,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000909102.1",
"gene_hgnc_id": 21869,
"gene_symbol": "AGK",
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Lys75Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579161.1",
"strand": true,
"transcript": "ENST00000909102.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 422,
"aa_ref": "K",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": 251,
"cds_end": null,
"cds_length": 1269,
"cds_start": 223,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909104.1",
"gene_hgnc_id": 21869,
"gene_symbol": "AGK",
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Lys75Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579163.1",
"strand": true,
"transcript": "ENST00000909104.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 422,
"aa_ref": "K",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2391,
"cdna_start": 367,
"cds_end": null,
"cds_length": 1269,
"cds_start": 223,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000909105.1",
"gene_hgnc_id": 21869,
"gene_symbol": "AGK",
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Lys75Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579164.1",
"strand": true,
"transcript": "ENST00000909105.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 422,
"aa_ref": "K",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2857,
"cdna_start": 736,
"cds_end": null,
"cds_length": 1269,
"cds_start": 223,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909106.1",
"gene_hgnc_id": 21869,
"gene_symbol": "AGK",
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Lys75Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579165.1",
"strand": true,
"transcript": "ENST00000909106.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 422,
"aa_ref": "K",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2537,
"cdna_start": 272,
"cds_end": null,
"cds_length": 1269,
"cds_start": 223,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000912226.1",
"gene_hgnc_id": 21869,
"gene_symbol": "AGK",
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Lys75Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582285.1",
"strand": true,
"transcript": "ENST00000912226.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 422,
"aa_ref": "K",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2290,
"cdna_start": 270,
"cds_end": null,
"cds_length": 1269,
"cds_start": 223,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000912227.1",
"gene_hgnc_id": 21869,
"gene_symbol": "AGK",
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Lys75Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582286.1",
"strand": true,
"transcript": "ENST00000912227.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 422,
"aa_ref": "K",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3346,
"cdna_start": 961,
"cds_end": null,
"cds_length": 1269,
"cds_start": 223,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000912228.1",
"gene_hgnc_id": 21869,
"gene_symbol": "AGK",
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Lys75Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582287.1",
"strand": true,
"transcript": "ENST00000912228.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 422,
"aa_ref": "K",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2832,
"cdna_start": 294,
"cds_end": null,
"cds_length": 1269,
"cds_start": 223,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962104.1",
"gene_hgnc_id": 21869,
"gene_symbol": "AGK",
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Lys75Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632163.1",
"strand": true,
"transcript": "ENST00000962104.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 422,
"aa_ref": "K",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2628,
"cdna_start": 364,
"cds_end": null,
"cds_length": 1269,
"cds_start": 223,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000962105.1",
"gene_hgnc_id": 21869,
"gene_symbol": "AGK",
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Lys75Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632164.1",
"strand": true,
"transcript": "ENST00000962105.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 422,
"aa_ref": "K",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2372,
"cdna_start": 350,
"cds_end": null,
"cds_length": 1269,
"cds_start": 223,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000962106.1",
"gene_hgnc_id": 21869,
"gene_symbol": "AGK",
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Lys75Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632165.1",
"strand": true,
"transcript": "ENST00000962106.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 421,
"aa_ref": "K",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": 262,
"cds_end": null,
"cds_length": 1266,
"cds_start": 223,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909101.1",
"gene_hgnc_id": 21869,
"gene_symbol": "AGK",
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Lys75Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579160.1",
"strand": true,
"transcript": "ENST00000909101.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 418,
"aa_ref": "K",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2686,
"cdna_start": 467,
"cds_end": null,
"cds_length": 1257,
"cds_start": 211,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000649914.1",
"gene_hgnc_id": 21869,
"gene_symbol": "AGK",
"hgvs_c": "c.211A>G",
"hgvs_p": "p.Lys71Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497848.1",
"strand": true,
"transcript": "ENST00000649914.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 394,
"aa_ref": "K",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1550,
"cdna_start": 281,
"cds_end": null,
"cds_length": 1185,
"cds_start": 139,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000473247.5",
"gene_hgnc_id": 21869,
"gene_symbol": "AGK",
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Lys47Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420776.1",
"strand": true,
"transcript": "ENST00000473247.5",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 391,
"aa_ref": "K",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2409,
"cdna_start": 237,
"cds_end": null,
"cds_length": 1176,
"cds_start": 223,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000909107.1",
"gene_hgnc_id": 21869,
"gene_symbol": "AGK",
"hgvs_c": "c.223A>G",
"hgvs_p": "p.Lys75Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579166.1",
"strand": true,
"transcript": "ENST00000909107.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 356,
"aa_ref": "K",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": 271,
"cds_end": null,
"cds_length": 1071,
"cds_start": 223,
"consequences": [
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{
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{
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]
}