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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: 2-227304032-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=227304032&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"PM1",
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "COL4A3",
"hgnc_id": 2204,
"hgvs_c": "c.4041C>A",
"hgvs_p": "p.Asp1347Glu",
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 2,
"score": -18,
"transcript": "NM_000091.5",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MFF-DT",
"hgnc_id": 41067,
"hgvs_c": "n.243+1428G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000439598.6",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM1,BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -18,
"allele_count_reference_population": 7415,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1052,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "2",
"clinvar_classification": "Benign",
"clinvar_disease": "Alport syndrome,Atypical hemolytic-uremic syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0026836097240448,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1670,
"aa_ref": "D",
"aa_start": 1347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8038,
"cdna_start": 4144,
"cds_end": null,
"cds_length": 5013,
"cds_start": 4041,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_000091.5",
"gene_hgnc_id": 2204,
"gene_symbol": "COL4A3",
"hgvs_c": "c.4041C>A",
"hgvs_p": "p.Asp1347Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396578.8",
"protein_coding": true,
"protein_id": "NP_000082.2",
"strand": true,
"transcript": "NM_000091.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1670,
"aa_ref": "D",
"aa_start": 1347,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8038,
"cdna_start": 4144,
"cds_end": null,
"cds_length": 5013,
"cds_start": 4041,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000396578.8",
"gene_hgnc_id": 2204,
"gene_symbol": "COL4A3",
"hgvs_c": "c.4041C>A",
"hgvs_p": "p.Asp1347Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000091.5",
"protein_coding": true,
"protein_id": "ENSP00000379823.3",
"strand": true,
"transcript": "ENST00000396578.8",
"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": 806,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000469504.2",
"gene_hgnc_id": 2204,
"gene_symbol": "COL4A3",
"hgvs_c": "n.12C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000493493.1",
"strand": true,
"transcript": "ENST00000469504.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2568,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000439598.6",
"gene_hgnc_id": 41067,
"gene_symbol": "MFF-DT",
"hgvs_c": "n.243+1428G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000439598.6",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1651,
"aa_ref": "D",
"aa_start": 1347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6129,
"cdna_start": 4144,
"cds_end": null,
"cds_length": 4956,
"cds_start": 4041,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000871618.1",
"gene_hgnc_id": 2204,
"gene_symbol": "COL4A3",
"hgvs_c": "c.4041C>A",
"hgvs_p": "p.Asp1347Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541677.1",
"strand": true,
"transcript": "ENST00000871618.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1635,
"aa_ref": "D",
"aa_start": 1312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7933,
"cdna_start": 4039,
"cds_end": null,
"cds_length": 4908,
"cds_start": 3936,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_005246277.4",
"gene_hgnc_id": 2204,
"gene_symbol": "COL4A3",
"hgvs_c": "c.3936C>A",
"hgvs_p": "p.Asp1312Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246334.1",
"strand": true,
"transcript": "XM_005246277.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1609,
"aa_ref": "D",
"aa_start": 1347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5012,
"cdna_start": 4144,
"cds_end": null,
"cds_length": 4830,
"cds_start": 4041,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_011510555.2",
"gene_hgnc_id": 2204,
"gene_symbol": "COL4A3",
"hgvs_c": "c.4041C>A",
"hgvs_p": "p.Asp1347Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508857.1",
"strand": true,
"transcript": "XM_011510555.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1498,
"aa_ref": "D",
"aa_start": 1347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4677,
"cdna_start": 4144,
"cds_end": null,
"cds_length": 4497,
"cds_start": 4041,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "XM_047443224.1",
"gene_hgnc_id": 2204,
"gene_symbol": "COL4A3",
"hgvs_c": "c.4041C>A",
"hgvs_p": "p.Asp1347Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299180.1",
"strand": true,
"transcript": "XM_047443224.1",
"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": 4603,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000471862.2",
"gene_hgnc_id": 2204,
"gene_symbol": "COL4A3",
"hgvs_c": "n.459C>A",
"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": "ENST00000471862.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2214,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396588.6",
"gene_hgnc_id": 41067,
"gene_symbol": "MFF-DT",
"hgvs_c": "n.215+1428G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000396588.6",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 6087,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000433324.2",
"gene_hgnc_id": 41067,
"gene_symbol": "MFF-DT",
"hgvs_c": "n.217+1428G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000433324.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1474,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000437673.6",
"gene_hgnc_id": 41067,
"gene_symbol": "MFF-DT",
"hgvs_c": "n.34+21136G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000437673.6",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2692,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000606119.2",
"gene_hgnc_id": 41067,
"gene_symbol": "MFF-DT",
"hgvs_c": "n.238+1428G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000606119.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1936,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000656540.1",
"gene_hgnc_id": 41067,
"gene_symbol": "MFF-DT",
"hgvs_c": "n.159+1428G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000656540.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2827,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000656707.1",
"gene_hgnc_id": 41067,
"gene_symbol": "MFF-DT",
"hgvs_c": "n.135+1428G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000656707.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3037,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000656771.1",
"gene_hgnc_id": 41067,
"gene_symbol": "MFF-DT",
"hgvs_c": "n.255+1428G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000656771.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3087,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000657158.1",
"gene_hgnc_id": 41067,
"gene_symbol": "MFF-DT",
"hgvs_c": "n.309+21136G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000657158.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1941,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000657873.1",
"gene_hgnc_id": 41067,
"gene_symbol": "MFF-DT",
"hgvs_c": "n.185+1428G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000657873.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2199,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000658093.1",
"gene_hgnc_id": 41067,
"gene_symbol": "MFF-DT",
"hgvs_c": "n.245+1428G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000658093.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1810,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000658632.1",
"gene_hgnc_id": 41067,
"gene_symbol": "MFF-DT",
"hgvs_c": "n.69+1428G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000658632.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000660803.1",
"gene_hgnc_id": 41067,
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