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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: 11-126235083-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=126235083&ref=C&alt=T&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": "FAM118B",
"hgnc_id": 26110,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_024556.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2095,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"chr": "11",
"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": 0.152578204870224,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 351,
"aa_ref": "P",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2016,
"cdna_start": 207,
"cds_end": null,
"cds_length": 1056,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_024556.4",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000533050.6",
"protein_coding": true,
"protein_id": "NP_078832.1",
"strand": true,
"transcript": "NM_024556.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 351,
"aa_ref": "P",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2016,
"cdna_start": 207,
"cds_end": null,
"cds_length": 1056,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000533050.6",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024556.4",
"protein_coding": true,
"protein_id": "ENSP00000433343.1",
"strand": true,
"transcript": "ENST00000533050.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 376,
"aa_ref": "P",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1754,
"cdna_start": 185,
"cds_end": null,
"cds_length": 1131,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000891485.1",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561544.1",
"strand": true,
"transcript": "ENST00000891485.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 355,
"aa_ref": "P",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1740,
"cdna_start": 237,
"cds_end": null,
"cds_length": 1068,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000891481.1",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561540.1",
"strand": true,
"transcript": "ENST00000891481.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 354,
"aa_ref": "P",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1714,
"cdna_start": 222,
"cds_end": null,
"cds_length": 1065,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000891482.1",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561541.1",
"strand": true,
"transcript": "ENST00000891482.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 351,
"aa_ref": "P",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1966,
"cdna_start": 138,
"cds_end": null,
"cds_length": 1056,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001439324.1",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426253.1",
"strand": true,
"transcript": "NM_001439324.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 351,
"aa_ref": "P",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2031,
"cdna_start": 203,
"cds_end": null,
"cds_length": 1056,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000891478.1",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561537.1",
"strand": true,
"transcript": "ENST00000891478.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 351,
"aa_ref": "P",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2248,
"cdna_start": 762,
"cds_end": null,
"cds_length": 1056,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000891484.1",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561543.1",
"strand": true,
"transcript": "ENST00000891484.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 351,
"aa_ref": "P",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1337,
"cdna_start": 247,
"cds_end": null,
"cds_length": 1056,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000891486.1",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561545.1",
"strand": true,
"transcript": "ENST00000891486.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 351,
"aa_ref": "P",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 341,
"cds_end": null,
"cds_length": 1056,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933496.1",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603555.1",
"strand": true,
"transcript": "ENST00000933496.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 351,
"aa_ref": "P",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1448,
"cdna_start": 239,
"cds_end": null,
"cds_length": 1056,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933500.1",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603559.1",
"strand": true,
"transcript": "ENST00000933500.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 350,
"aa_ref": "P",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2032,
"cdna_start": 207,
"cds_end": null,
"cds_length": 1053,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001330446.2",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317375.1",
"strand": true,
"transcript": "NM_001330446.2",
"transcript_support_level": null
},
{
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"aa_length": 350,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": 138,
"cds_end": null,
"cds_length": 1053,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001439325.1",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426254.1",
"strand": true,
"transcript": "NM_001439325.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 350,
"aa_ref": "P",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1616,
"cdna_start": 147,
"cds_end": null,
"cds_length": 1053,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000360194.8",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353321.4",
"strand": true,
"transcript": "ENST00000360194.8",
"transcript_support_level": 5
},
{
"aa_alt": "S",
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"aa_length": 350,
"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2191,
"cdna_start": 302,
"cds_end": null,
"cds_length": 1053,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000891477.1",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561536.1",
"strand": true,
"transcript": "ENST00000891477.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 350,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": 231,
"cds_end": null,
"cds_length": 1053,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933498.1",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603557.1",
"strand": true,
"transcript": "ENST00000933498.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 350,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2094,
"cdna_start": 328,
"cds_end": null,
"cds_length": 1053,
"cds_start": 82,
"consequences": [
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],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000942846.1",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000612905.1",
"strand": true,
"transcript": "ENST00000942846.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_start": 353,
"cds_end": null,
"cds_length": 1040,
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"consequences": [
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],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000528985.5",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434952.1",
"strand": true,
"transcript": "ENST00000528985.5",
"transcript_support_level": 5
},
{
"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": 207,
"cds_end": null,
"cds_length": 1023,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000891483.1",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561542.1",
"strand": true,
"transcript": "ENST00000891483.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 339,
"aa_ref": "P",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1925,
"cdna_start": 189,
"cds_end": null,
"cds_length": 1020,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000933494.1",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603553.1",
"strand": true,
"transcript": "ENST00000933494.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 331,
"aa_ref": "P",
"aa_start": 28,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2006,
"cdna_start": 238,
"cds_end": null,
"cds_length": 996,
"cds_start": 82,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000891479.1",
"gene_hgnc_id": 26110,
"gene_symbol": "FAM118B",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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