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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: 9-70259152-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=70259152&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM1",
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SMC5",
"hgnc_id": 20465,
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 2,
"transcript": "NM_015110.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "MAMDC2-AS1",
"hgnc_id": 48719,
"hgvs_c": "n.-228G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000727086.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BP4_Moderate",
"acmg_score": 2,
"allele_count_reference_population": 5,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.194,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.16888630390167236,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1101,
"aa_ref": "S",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5949,
"cdna_start": 175,
"cds_end": null,
"cds_length": 3306,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_015110.4",
"gene_hgnc_id": 20465,
"gene_symbol": "SMC5",
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361138.7",
"protein_coding": true,
"protein_id": "NP_055925.2",
"strand": true,
"transcript": "NM_015110.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1101,
"aa_ref": "S",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5949,
"cdna_start": 175,
"cds_end": null,
"cds_length": 3306,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000361138.7",
"gene_hgnc_id": 20465,
"gene_symbol": "SMC5",
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015110.4",
"protein_coding": true,
"protein_id": "ENSP00000354957.5",
"strand": true,
"transcript": "ENST00000361138.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "S",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4736,
"cdna_start": 171,
"cds_end": null,
"cds_length": 3393,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000912980.1",
"gene_hgnc_id": 20465,
"gene_symbol": "SMC5",
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583039.1",
"strand": true,
"transcript": "ENST00000912980.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1086,
"aa_ref": "S",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6613,
"cdna_start": 883,
"cds_end": null,
"cds_length": 3261,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000884400.1",
"gene_hgnc_id": 20465,
"gene_symbol": "SMC5",
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554459.1",
"strand": true,
"transcript": "ENST00000884400.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1085,
"aa_ref": "S",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5904,
"cdna_start": 179,
"cds_end": null,
"cds_length": 3258,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000912976.1",
"gene_hgnc_id": 20465,
"gene_symbol": "SMC5",
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583035.1",
"strand": true,
"transcript": "ENST00000912976.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1077,
"aa_ref": "S",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5914,
"cdna_start": 212,
"cds_end": null,
"cds_length": 3234,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000912975.1",
"gene_hgnc_id": 20465,
"gene_symbol": "SMC5",
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583034.1",
"strand": true,
"transcript": "ENST00000912975.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1073,
"aa_ref": "S",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5861,
"cdna_start": 177,
"cds_end": null,
"cds_length": 3222,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000955050.1",
"gene_hgnc_id": 20465,
"gene_symbol": "SMC5",
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625109.1",
"strand": true,
"transcript": "ENST00000955050.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1069,
"aa_ref": "S",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5851,
"cdna_start": 173,
"cds_end": null,
"cds_length": 3210,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000912977.1",
"gene_hgnc_id": 20465,
"gene_symbol": "SMC5",
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583036.1",
"strand": true,
"transcript": "ENST00000912977.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1063,
"aa_ref": "S",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5872,
"cdna_start": 212,
"cds_end": null,
"cds_length": 3192,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000912974.1",
"gene_hgnc_id": 20465,
"gene_symbol": "SMC5",
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583033.1",
"strand": true,
"transcript": "ENST00000912974.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1062,
"aa_ref": "S",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5889,
"cdna_start": 232,
"cds_end": null,
"cds_length": 3189,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000912972.1",
"gene_hgnc_id": 20465,
"gene_symbol": "SMC5",
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583031.1",
"strand": true,
"transcript": "ENST00000912972.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 1059,
"aa_ref": "S",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5808,
"cdna_start": 160,
"cds_end": null,
"cds_length": 3180,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000955051.1",
"gene_hgnc_id": 20465,
"gene_symbol": "SMC5",
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625110.1",
"strand": true,
"transcript": "ENST00000955051.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 1054,
"aa_ref": "S",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5858,
"cdna_start": 225,
"cds_end": null,
"cds_length": 3165,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000912973.1",
"gene_hgnc_id": 20465,
"gene_symbol": "SMC5",
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583032.1",
"strand": true,
"transcript": "ENST00000912973.1",
"transcript_support_level": null
},
{
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"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3341,
"cdna_start": 175,
"cds_end": null,
"cds_length": 3156,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000955053.1",
"gene_hgnc_id": 20465,
"gene_symbol": "SMC5",
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625112.1",
"strand": true,
"transcript": "ENST00000955053.1",
"transcript_support_level": null
},
{
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"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5815,
"cdna_start": 205,
"cds_end": null,
"cds_length": 3147,
"cds_start": 74,
"consequences": [
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],
"exon_count": 23,
"exon_rank": 1,
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"feature": "ENST00000884401.1",
"gene_hgnc_id": 20465,
"gene_symbol": "SMC5",
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554460.1",
"strand": true,
"transcript": "ENST00000884401.1",
"transcript_support_level": null
},
{
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"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5685,
"cdna_start": 82,
"cds_end": null,
"cds_length": 3135,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000912979.1",
"gene_hgnc_id": 20465,
"gene_symbol": "SMC5",
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583038.1",
"strand": true,
"transcript": "ENST00000912979.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 1009,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4083,
"cdna_start": 99,
"cds_end": null,
"cds_length": 3030,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000955052.1",
"gene_hgnc_id": 20465,
"gene_symbol": "SMC5",
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625111.1",
"strand": true,
"transcript": "ENST00000955052.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000912978.1",
"gene_hgnc_id": 20465,
"gene_symbol": "SMC5",
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000583037.1",
"strand": true,
"transcript": "ENST00000912978.1",
"transcript_support_level": null
},
{
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"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5904,
"cdna_start": 175,
"cds_end": null,
"cds_length": 3261,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_005251837.3",
"gene_hgnc_id": 20465,
"gene_symbol": "SMC5",
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251894.1",
"strand": true,
"transcript": "XM_005251837.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 175,
"cds_end": null,
"cds_length": 3234,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_005251838.3",
"gene_hgnc_id": 20465,
"gene_symbol": "SMC5",
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005251895.1",
"strand": true,
"transcript": "XM_005251838.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "S",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3589,
"cdna_start": 175,
"cds_end": null,
"cds_length": 3207,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017014507.2",
"gene_hgnc_id": 20465,
"gene_symbol": "SMC5",
"hgvs_c": "c.74C>G",
"hgvs_p": "p.Ser25Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869996.1",
"strand": true,
"transcript": "XM_017014507.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1063,
"aa_ref": "S",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5835,
"cdna_start": 175,
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