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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: 1-235504146-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=235504146&ref=G&alt=C&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": "B3GALNT2",
"hgnc_id": 28596,
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Pro36Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_152490.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.0751,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " 11, type a,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13647329807281494,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 500,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4719,
"cdna_start": 307,
"cds_end": null,
"cds_length": 1503,
"cds_start": 107,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_152490.5",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Pro36Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366600.8",
"protein_coding": true,
"protein_id": "NP_689703.1",
"strand": false,
"transcript": "NM_152490.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 500,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4719,
"cdna_start": 307,
"cds_end": null,
"cds_length": 1503,
"cds_start": 107,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000366600.8",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Pro36Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152490.5",
"protein_coding": true,
"protein_id": "ENSP00000355559.3",
"strand": false,
"transcript": "ENST00000366600.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 326,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": 277,
"cds_end": null,
"cds_length": 981,
"cds_start": 107,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000313984.3",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Pro36Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000315678.3",
"strand": false,
"transcript": "ENST00000313984.3",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 540,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4832,
"cdna_start": 323,
"cds_end": null,
"cds_length": 1623,
"cds_start": 107,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000954792.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Pro36Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624851.1",
"strand": false,
"transcript": "ENST00000954792.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 502,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3948,
"cdna_start": 280,
"cds_end": null,
"cds_length": 1509,
"cds_start": 107,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000676288.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Pro36Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502392.1",
"strand": false,
"transcript": "ENST00000676288.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 499,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4669,
"cdna_start": 283,
"cds_end": null,
"cds_length": 1500,
"cds_start": 107,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000920824.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Pro36Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590883.1",
"strand": false,
"transcript": "ENST00000920824.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 499,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4666,
"cdna_start": 280,
"cds_end": null,
"cds_length": 1500,
"cds_start": 107,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000920826.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Pro36Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590885.1",
"strand": false,
"transcript": "ENST00000920826.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 498,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4652,
"cdna_start": 276,
"cds_end": null,
"cds_length": 1497,
"cds_start": 107,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000954793.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Pro36Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624852.1",
"strand": false,
"transcript": "ENST00000954793.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 463,
"aa_ref": "P",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": 275,
"cds_end": null,
"cds_length": 1392,
"cds_start": 107,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000920827.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Pro36Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590886.1",
"strand": false,
"transcript": "ENST00000920827.1",
"transcript_support_level": null
},
{
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"aa_length": 461,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2240,
"cdna_start": 315,
"cds_end": null,
"cds_length": 1386,
"cds_start": 107,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000883744.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Pro36Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553803.1",
"strand": false,
"transcript": "ENST00000883744.1",
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},
{
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"aa_length": 326,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3342,
"cdna_start": 307,
"cds_end": null,
"cds_length": 981,
"cds_start": 107,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001277155.3",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Pro36Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001264084.1",
"strand": false,
"transcript": "NM_001277155.3",
"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": 4030,
"cdna_start": 283,
"cds_end": null,
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000920825.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.107C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000590884.1",
"strand": false,
"transcript": "ENST00000920825.1",
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},
{
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"consequences": [
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],
"exon_count": 6,
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"feature": "ENST00000920823.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Pro36Arg",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000590882.1",
"strand": false,
"transcript": "ENST00000920823.1",
"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": 3950,
"cdna_start": 329,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
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"feature": "ENST00000920822.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Pro36Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000590881.1",
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"transcript": "ENST00000920822.1",
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},
{
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"cdna_end": null,
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"consequences": [
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],
"exon_count": 5,
"exon_rank": 1,
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"feature": "ENST00000883743.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Pro36Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553802.1",
"strand": false,
"transcript": "ENST00000883743.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 307,
"cds_end": null,
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"consequences": [
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],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_006711749.4",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Pro36Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_006711812.1",
"strand": false,
"transcript": "XM_006711749.4",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 13,
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"feature": "XM_017000394.2",
"gene_hgnc_id": 28596,
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"protein_id": "XP_016855883.1",
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"transcript": "XM_017000394.2",
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},
{
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"consequences": [
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],
"exon_count": 9,
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"feature": "XM_047447002.1",
"gene_hgnc_id": 28596,
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"protein_coding": true,
"protein_id": "XP_047302958.1",
"strand": false,
"transcript": "XM_047447002.1",
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},
{
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"consequences": [
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],
"exon_count": 8,
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"feature": "XM_047447003.1",
"gene_hgnc_id": 28596,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047302959.1",
"strand": false,
"transcript": "XM_047447003.1",
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},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_start": 307,
"cds_end": null,
"cds_length": 930,
"cds_start": 107,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047447004.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Pro36Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047302960.1",
"strand": false,
"transcript": "XM_047447004.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 307,
"cds_end": null,
"cds_length": 876,
"cds_start": 107,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047447005.1",
"gene_hgnc_id": 28596,
"gene_symbol": "B3GALNT2",
"hgvs_c": "c.107C>G",
"hgvs_p": "p.Pro36Arg",
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}