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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: 6-26094205-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=26094205&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "HFE",
"hgnc_id": 4886,
"hgvs_c": "c.1026C>T",
"hgvs_p": "p.Tyr342Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_000410.4",
"verdict": "Benign"
},
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "H2BC4",
"hgnc_id": 4757,
"hgvs_c": "c.*10-3171G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -9,
"transcript": "ENST00000957524.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_score": -14,
"allele_count_reference_population": 1575,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"chr": "6",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Hemochromatosis type 1,Hereditary hemochromatosis,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6299999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 348,
"aa_ref": "Y",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5176,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 1047,
"cds_start": 1026,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_000410.4",
"gene_hgnc_id": 4886,
"gene_symbol": "HFE",
"hgvs_c": "c.1026C>T",
"hgvs_p": "p.Tyr342Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357618.10",
"protein_coding": true,
"protein_id": "NP_000401.1",
"strand": true,
"transcript": "NM_000410.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 348,
"aa_ref": "Y",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5176,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 1047,
"cds_start": 1026,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000357618.10",
"gene_hgnc_id": 4886,
"gene_symbol": "HFE",
"hgvs_c": "c.1026C>T",
"hgvs_p": "p.Tyr342Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000410.4",
"protein_coding": true,
"protein_id": "ENSP00000417404.1",
"strand": true,
"transcript": "ENST00000357618.10",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 345,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1123,
"cdna_start": 1066,
"cds_end": null,
"cds_length": 1038,
"cds_start": 1017,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000470149.5",
"gene_hgnc_id": 4886,
"gene_symbol": "HFE",
"hgvs_c": "c.1017C>T",
"hgvs_p": "p.Tyr339Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419725.1",
"strand": true,
"transcript": "ENST00000470149.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 334,
"aa_ref": "Y",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1131,
"cdna_start": 1106,
"cds_end": null,
"cds_length": 1005,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000461397.6",
"gene_hgnc_id": 4886,
"gene_symbol": "HFE",
"hgvs_c": "c.984C>T",
"hgvs_p": "p.Tyr328Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420802.1",
"strand": true,
"transcript": "ENST00000461397.6",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Y",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1280,
"cdna_start": 1117,
"cds_end": null,
"cds_length": 978,
"cds_start": 957,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000397022.7",
"gene_hgnc_id": 4886,
"gene_symbol": "HFE",
"hgvs_c": "c.957C>T",
"hgvs_p": "p.Tyr319Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380217.3",
"strand": true,
"transcript": "ENST00000397022.7",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 260,
"aa_ref": "Y",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1704,
"cdna_start": 922,
"cds_end": null,
"cds_length": 783,
"cds_start": 762,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000349999.8",
"gene_hgnc_id": 4886,
"gene_symbol": "HFE",
"hgvs_c": "c.762C>T",
"hgvs_p": "p.Tyr254Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000259699.6",
"strand": true,
"transcript": "ENST00000349999.8",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 256,
"aa_ref": "Y",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1922,
"cdna_start": 910,
"cds_end": null,
"cds_length": 771,
"cds_start": 750,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000317896.11",
"gene_hgnc_id": 4886,
"gene_symbol": "HFE",
"hgvs_c": "c.750C>T",
"hgvs_p": "p.Tyr250Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000313776.7",
"strand": true,
"transcript": "ENST00000317896.11",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 246,
"aa_ref": "Y",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 781,
"cdna_start": 756,
"cds_end": null,
"cds_length": 741,
"cds_start": 720,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000488199.5",
"gene_hgnc_id": 4886,
"gene_symbol": "HFE",
"hgvs_c": "c.720C>T",
"hgvs_p": "p.Tyr240Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420559.1",
"strand": true,
"transcript": "ENST00000488199.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 242,
"aa_ref": "Y",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 804,
"cdna_start": 752,
"cds_end": null,
"cds_length": 729,
"cds_start": 708,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000336625.12",
"gene_hgnc_id": 4886,
"gene_symbol": "HFE",
"hgvs_c": "c.708C>T",
"hgvs_p": "p.Tyr236Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000337819.8",
"strand": true,
"transcript": "ENST00000336625.12",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 168,
"aa_ref": "Y",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 809,
"cdna_start": 646,
"cds_end": null,
"cds_length": 507,
"cds_start": 486,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000353147.9",
"gene_hgnc_id": 4886,
"gene_symbol": "HFE",
"hgvs_c": "c.486C>T",
"hgvs_p": "p.Tyr162Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000312342.5",
"strand": true,
"transcript": "ENST00000353147.9",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 76,
"aa_ref": "Y",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 653,
"cdna_start": 370,
"cds_end": null,
"cds_length": 231,
"cds_start": 210,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000352392.8",
"gene_hgnc_id": 4886,
"gene_symbol": "HFE",
"hgvs_c": "c.210C>T",
"hgvs_p": "p.Tyr70Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000315936.4",
"strand": true,
"transcript": "ENST00000352392.8",
"transcript_support_level": 1
},
{
"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": 987,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000486147.1",
"gene_hgnc_id": 4886,
"gene_symbol": "HFE",
"hgvs_c": "n.935C>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": "ENST00000486147.1",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 190,
"aa_ref": "R",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3183,
"cdna_start": 574,
"cds_end": null,
"cds_length": 573,
"cds_start": 562,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000714174.1",
"gene_hgnc_id": 4886,
"gene_symbol": "HFE",
"hgvs_c": "c.562C>T",
"hgvs_p": "p.Arg188Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519463.1",
"strand": true,
"transcript": "ENST00000714174.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 348,
"aa_ref": "Y",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4991,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 1047,
"cds_start": 1026,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001384164.1",
"gene_hgnc_id": 4886,
"gene_symbol": "HFE",
"hgvs_c": "c.1026C>T",
"hgvs_p": "p.Tyr342Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371093.1",
"strand": true,
"transcript": "NM_001384164.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 348,
"aa_ref": "Y",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2118,
"cdna_start": 1036,
"cds_end": null,
"cds_length": 1047,
"cds_start": 1026,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000485729.2",
"gene_hgnc_id": 4886,
"gene_symbol": "HFE",
"hgvs_c": "c.1026C>T",
"hgvs_p": "p.Tyr342Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417534.2",
"strand": true,
"transcript": "ENST00000485729.2",
"transcript_support_level": 3
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 345,
"aa_ref": "Y",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5167,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1038,
"cds_start": 1017,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001406751.1",
"gene_hgnc_id": 4886,
"gene_symbol": "HFE",
"hgvs_c": "c.1017C>T",
"hgvs_p": "p.Tyr339Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393680.1",
"strand": true,
"transcript": "NM_001406751.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 334,
"aa_ref": "Y",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5134,
"cdna_start": 996,
"cds_end": null,
"cds_length": 1005,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_139006.3",
"gene_hgnc_id": 4886,
"gene_symbol": "HFE",
"hgvs_c": "c.984C>T",
"hgvs_p": "p.Tyr328Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_620575.1",
"strand": true,
"transcript": "NM_139006.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 325,
"aa_ref": "Y",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5107,
"cdna_start": 969,
"cds_end": null,
"cds_length": 978,
"cds_start": 957,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_139009.3",
"gene_hgnc_id": 4886,
"gene_symbol": "HFE",
"hgvs_c": "c.957C>T",
"hgvs_p": "p.Tyr319Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_620578.1",
"strand": true,
"transcript": "NM_139009.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 314,
"aa_ref": "Y",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3736,
"cdna_start": 1118,
"cds_end": null,
"cds_length": 945,
"cds_start": 924,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000714170.1",
"gene_hgnc_id": 4886,
"gene_symbol": "HFE",
"hgvs_c": "c.924C>T",
"hgvs_p": "p.Tyr308Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519459.1",
"strand": true,
"transcript": "ENST00000714170.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 260,
"aa_ref": "Y",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4912,
"cdna_start": 774,
"cds_end": null,
"cds_length": 783,
"cds_start": 762,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_139007.3",
"gene_hgnc_id": 4886,
"gene_symbol": "HFE",
"hgvs_c": "c.762C>T",
"hgvs_p": "p.Tyr254Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_620576.1",
"strand": true,
"transcript": "NM_139007.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 256,
"aa_ref": "Y",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4900,
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