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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: 19-10986973-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10986973&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SMARCA4",
"hgnc_id": 11100,
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Pro277Ser",
"inheritance_mode": "AD,Unknown,AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001128849.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.0602,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "19",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " autosomal dominant 16,Hereditary cancer-predisposing syndrome,Intellectual disability,Rhabdoid tumor predisposition syndrome 2,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.06618261337280273,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "P",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5670,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 5040,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001387283.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Pro277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000646693.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374212.1",
"strand": true,
"transcript": "NM_001387283.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1679,
"aa_ref": "P",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5670,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 5040,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000646693.2",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Pro277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001387283.1",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495368.1",
"strand": true,
"transcript": "ENST00000646693.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1647,
"aa_ref": "P",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5577,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 4944,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_003072.5",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Pro277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000344626.10",
"protein_coding": true,
"protein_id": "NP_003063.2",
"strand": true,
"transcript": "NM_003072.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1647,
"aa_ref": "P",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5577,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 4944,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000344626.10",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Pro277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003072.5",
"protein_coding": true,
"protein_id": "ENSP00000343896.4",
"strand": true,
"transcript": "ENST00000344626.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1649,
"aa_ref": "P",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5609,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 4950,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000643549.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Pro277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493975.1",
"strand": true,
"transcript": "ENST00000643549.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "P",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5139,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 4854,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000541122.6",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Pro277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445036.2",
"strand": true,
"transcript": "ENST00000541122.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "P",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5563,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 4854,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000643296.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Pro277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496635.1",
"strand": true,
"transcript": "ENST00000643296.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1617,
"aa_ref": "P",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5777,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 4854,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000644737.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Pro277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495548.1",
"strand": true,
"transcript": "ENST00000644737.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1616,
"aa_ref": "P",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5181,
"cdna_start": 1159,
"cds_end": null,
"cds_length": 4851,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000589677.5",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Pro277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464778.1",
"strand": true,
"transcript": "ENST00000589677.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1454,
"aa_ref": "P",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4817,
"cdna_start": 243,
"cds_end": null,
"cds_length": 4365,
"cds_start": 241,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000643995.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.241C>T",
"hgvs_p": "p.Pro81Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496004.1",
"strand": true,
"transcript": "ENST00000643995.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1679,
"aa_ref": "P",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5673,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 5040,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001128849.3",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Pro277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001122321.1",
"strand": true,
"transcript": "NM_001128849.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1679,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5745,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 5040,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 36,
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"feature": "ENST00000711079.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Pro277Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518564.1",
"strand": true,
"transcript": "ENST00000711079.1",
"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": 5966,
"cdna_start": 1294,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 5,
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"feature": "ENST00000896343.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Pro277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566402.1",
"strand": true,
"transcript": "ENST00000896343.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1669,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5671,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 5010,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000924728.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Pro277Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594787.1",
"strand": true,
"transcript": "ENST00000924728.1",
"transcript_support_level": null
},
{
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"aa_length": 1649,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5403,
"cdna_start": 1034,
"cds_end": null,
"cds_length": 4950,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000924742.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Pro277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594801.1",
"strand": true,
"transcript": "ENST00000924742.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1648,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5728,
"cdna_start": 1149,
"cds_end": null,
"cds_length": 4947,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000924719.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Pro277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594778.1",
"strand": true,
"transcript": "ENST00000924719.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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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": 974,
"cds_end": null,
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"consequences": [
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],
"exon_count": 35,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000924738.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Pro277Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594797.1",
"strand": true,
"transcript": "ENST00000924738.1",
"transcript_support_level": null
},
{
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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": 1081,
"cds_end": null,
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"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001128844.3",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Pro277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001122316.1",
"strand": true,
"transcript": "NM_001128844.3",
"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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"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000429416.8",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Pro277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395654.1",
"strand": true,
"transcript": "ENST00000429416.8",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1647,
"aa_ref": "P",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5771,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 4944,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000924715.1",
"gene_hgnc_id": 11100,
"gene_symbol": "SMARCA4",
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Pro277Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594774.1",
"strand": true,
"transcript": "ENST00000924715.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1647,
"aa_ref": "P",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5720,
"cdna_start": 1350,
"cds_end": null,
"cds_length": 4944,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 35,
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}