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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: X-51896530-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=51896530&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MAGED1",
"hgnc_id": 6813,
"hgvs_c": "c.1043C>G",
"hgvs_p": "p.Pro348Arg",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001005333.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.2193,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.255384624004364,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 778,
"aa_ref": "P",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": 1044,
"cds_end": null,
"cds_length": 2337,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_006986.4",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.875C>G",
"hgvs_p": "p.Pro292Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000326587.12",
"protein_coding": true,
"protein_id": "NP_008917.3",
"strand": true,
"transcript": "NM_006986.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 778,
"aa_ref": "P",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": 1044,
"cds_end": null,
"cds_length": 2337,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000326587.12",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.875C>G",
"hgvs_p": "p.Pro292Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006986.4",
"protein_coding": true,
"protein_id": "ENSP00000325333.8",
"strand": true,
"transcript": "ENST00000326587.12",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 834,
"aa_ref": "P",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2875,
"cdna_start": 1196,
"cds_end": null,
"cds_length": 2505,
"cds_start": 1043,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000375695.2",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.1043C>G",
"hgvs_p": "p.Pro348Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364847.2",
"strand": true,
"transcript": "ENST00000375695.2",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 834,
"aa_ref": "P",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2891,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 2505,
"cds_start": 1043,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001005333.2",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.1043C>G",
"hgvs_p": "p.Pro348Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005333.1",
"strand": true,
"transcript": "NM_001005333.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 834,
"aa_ref": "P",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2800,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 2505,
"cds_start": 1043,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898271.1",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.1043C>G",
"hgvs_p": "p.Pro348Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568330.1",
"strand": true,
"transcript": "ENST00000898271.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 834,
"aa_ref": "P",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2870,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 2505,
"cds_start": 1043,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000943445.1",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.1043C>G",
"hgvs_p": "p.Pro348Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613504.1",
"strand": true,
"transcript": "ENST00000943445.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 819,
"aa_ref": "P",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2820,
"cdna_start": 1018,
"cds_end": null,
"cds_length": 2460,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000898286.1",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.875C>G",
"hgvs_p": "p.Pro292Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568345.1",
"strand": true,
"transcript": "ENST00000898286.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 819,
"aa_ref": "P",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2759,
"cdna_start": 957,
"cds_end": null,
"cds_length": 2460,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000939079.1",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.875C>G",
"hgvs_p": "p.Pro292Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609138.1",
"strand": true,
"transcript": "ENST00000939079.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 819,
"aa_ref": "P",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2994,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 2460,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000943446.1",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.875C>G",
"hgvs_p": "p.Pro292Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613505.1",
"strand": true,
"transcript": "ENST00000943446.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 813,
"aa_ref": "P",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2751,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 2442,
"cds_start": 1043,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000939078.1",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.1043C>G",
"hgvs_p": "p.Pro348Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609137.1",
"strand": true,
"transcript": "ENST00000939078.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2742,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 2364,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000898283.1",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.875C>G",
"hgvs_p": "p.Pro292Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568342.1",
"strand": true,
"transcript": "ENST00000898283.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2742,
"cdna_start": 1039,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000898281.1",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.875C>G",
"hgvs_p": "p.Pro292Arg",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000568340.1",
"strand": true,
"transcript": "ENST00000898281.1",
"transcript_support_level": null
},
{
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"cdna_end": null,
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"cdna_start": 1012,
"cds_end": null,
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"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000943452.1",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.875C>G",
"hgvs_p": "p.Pro292Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613511.1",
"strand": true,
"transcript": "ENST00000943452.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2632,
"cdna_start": 953,
"cds_end": null,
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"cds_start": 875,
"consequences": [
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],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001005332.2",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.875C>G",
"hgvs_p": "p.Pro292Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005332.1",
"strand": true,
"transcript": "NM_001005332.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"cds_start": 875,
"consequences": [
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],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000375722.5",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.875C>G",
"hgvs_p": "p.Pro292Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364874.1",
"strand": true,
"transcript": "ENST00000375722.5",
"transcript_support_level": 5
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2701,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 2337,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000375772.7",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.875C>G",
"hgvs_p": "p.Pro292Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364927.3",
"strand": true,
"transcript": "ENST00000375772.7",
"transcript_support_level": 5
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1036,
"cds_end": null,
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"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000898263.1",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.875C>G",
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"protein_coding": true,
"protein_id": "ENSP00000568322.1",
"strand": true,
"transcript": "ENST00000898263.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 14,
"exon_rank": 5,
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"feature": "ENST00000898264.1",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.875C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000568323.1",
"strand": true,
"transcript": "ENST00000898264.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 1208,
"cds_end": null,
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"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000898265.1",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.875C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000568324.1",
"strand": true,
"transcript": "ENST00000898265.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2959,
"cdna_start": 1280,
"cds_end": null,
"cds_length": 2337,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898266.1",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.875C>G",
"hgvs_p": "p.Pro292Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568325.1",
"strand": true,
"transcript": "ENST00000898266.1",
"transcript_support_level": null
},
{
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"aa_length": 778,
"aa_ref": "P",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2892,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 2337,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000898268.1",
"gene_hgnc_id": 6813,
"gene_symbol": "MAGED1",
"hgvs_c": "c.875C>G",
"hgvs_p": "p.Pro292Arg",
"intron_rank": null,
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