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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: 17-35440788-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35440788&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 35440788,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000285013.11",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"hgvs_c": "c.2501T>C",
"hgvs_p": "p.Met834Thr",
"transcript": "NM_144682.6",
"protein_id": "NP_653283.3",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 897,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2706,
"cdna_end": null,
"cdna_length": 8398,
"mane_select": "ENST00000285013.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"hgvs_c": "c.2501T>C",
"hgvs_p": "p.Met834Thr",
"transcript": "ENST00000285013.11",
"protein_id": "ENSP00000285013.6",
"transcript_support_level": 1,
"aa_start": 834,
"aa_end": null,
"aa_length": 897,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2706,
"cdna_end": null,
"cdna_length": 8398,
"mane_select": "NM_144682.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"hgvs_c": "c.2501T>C",
"hgvs_p": "p.Met834Thr",
"transcript": "ENST00000542635.5",
"protein_id": "ENSP00000444016.1",
"transcript_support_level": 1,
"aa_start": 834,
"aa_end": null,
"aa_length": 897,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2678,
"cdna_end": null,
"cdna_length": 5921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"hgvs_c": "c.2501T>C",
"hgvs_p": "p.Met834Thr",
"transcript": "ENST00000526861.5",
"protein_id": "ENSP00000434439.1",
"transcript_support_level": 5,
"aa_start": 834,
"aa_end": null,
"aa_length": 897,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2759,
"cdna_end": null,
"cdna_length": 6004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"hgvs_c": "c.2501T>C",
"hgvs_p": "p.Met834Thr",
"transcript": "ENST00000533791.5",
"protein_id": "ENSP00000467426.1",
"transcript_support_level": 2,
"aa_start": 834,
"aa_end": null,
"aa_length": 897,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2831,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"hgvs_c": "c.1547T>C",
"hgvs_p": "p.Met516Thr",
"transcript": "ENST00000534689.5",
"protein_id": "ENSP00000435442.1",
"transcript_support_level": 2,
"aa_start": 516,
"aa_end": null,
"aa_length": 579,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1750,
"cdna_end": null,
"cdna_length": 3058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"hgvs_c": "c.2501T>C",
"hgvs_p": "p.Met834Thr",
"transcript": "XM_005257922.3",
"protein_id": "XP_005257979.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 897,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 3155,
"cdna_end": null,
"cdna_length": 8847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"hgvs_c": "c.2501T>C",
"hgvs_p": "p.Met834Thr",
"transcript": "XM_017024233.2",
"protein_id": "XP_016879722.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 897,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 3766,
"cdna_end": null,
"cdna_length": 9458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"hgvs_c": "c.2501T>C",
"hgvs_p": "p.Met834Thr",
"transcript": "XM_024450614.2",
"protein_id": "XP_024306382.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 897,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 4920,
"cdna_end": null,
"cdna_length": 10612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"hgvs_c": "c.2501T>C",
"hgvs_p": "p.Met834Thr",
"transcript": "XM_047435460.1",
"protein_id": "XP_047291416.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 897,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 3128,
"cdna_end": null,
"cdna_length": 8820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"hgvs_c": "c.2501T>C",
"hgvs_p": "p.Met834Thr",
"transcript": "XM_047435461.1",
"protein_id": "XP_047291417.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 897,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 4215,
"cdna_end": null,
"cdna_length": 9907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"hgvs_c": "c.2501T>C",
"hgvs_p": "p.Met834Thr",
"transcript": "XM_047435462.1",
"protein_id": "XP_047291418.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 897,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 4188,
"cdna_end": null,
"cdna_length": 9880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"hgvs_c": "c.2501T>C",
"hgvs_p": "p.Met834Thr",
"transcript": "XM_047435463.1",
"protein_id": "XP_047291419.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 897,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2743,
"cdna_end": null,
"cdna_length": 8435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"hgvs_c": "c.2501T>C",
"hgvs_p": "p.Met834Thr",
"transcript": "XM_047435464.1",
"protein_id": "XP_047291420.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
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"cds_start": 2501,
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"cds_length": 2694,
"cdna_start": 2968,
"cdna_end": null,
"cdna_length": 8660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"hgvs_c": "c.2501T>C",
"hgvs_p": "p.Met834Thr",
"transcript": "XM_047435465.1",
"protein_id": "XP_047291421.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
"aa_length": 897,
"cds_start": 2501,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 3192,
"cdna_end": null,
"cdna_length": 8884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"hgvs_c": "c.2501T>C",
"hgvs_p": "p.Met834Thr",
"transcript": "XM_047435467.1",
"protein_id": "XP_047291423.1",
"transcript_support_level": null,
"aa_start": 834,
"aa_end": null,
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"cds_start": 2501,
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"cdna_start": 2559,
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"cdna_length": 8251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"hgvs_c": "c.1508T>C",
"hgvs_p": "p.Met503Thr",
"transcript": "XM_011524383.3",
"protein_id": "XP_011522685.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 566,
"cds_start": 1508,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 7406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"hgvs_c": "c.1508T>C",
"hgvs_p": "p.Met503Thr",
"transcript": "XM_047435468.1",
"protein_id": "XP_047291424.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 566,
"cds_start": 1508,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 7828,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"hgvs_c": "n.*1470T>C",
"hgvs_p": null,
"transcript": "ENST00000530782.5",
"protein_id": "ENSP00000437298.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3910,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"hgvs_c": "n.*1470T>C",
"hgvs_p": null,
"transcript": "ENST00000530782.5",
"protein_id": "ENSP00000437298.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLFN13",
"gene_hgnc_id": 26481,
"dbsnp": "rs751216867",
"frequency_reference_population": 0.0000047884528,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000478845,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03506326675415039,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.01,
"revel_prediction": "Benign",
"alphamissense_score": 0.1069,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.797,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000285013.11",
"gene_symbol": "SLFN13",
"hgnc_id": 26481,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2501T>C",
"hgvs_p": "p.Met834Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}