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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: 9-70282551-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=70282551&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 70282551,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015110.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "NM_015110.4",
"protein_id": "NP_055925.2",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1101,
"cds_start": 949,
"cds_end": null,
"cds_length": 3306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361138.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015110.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "ENST00000361138.7",
"protein_id": "ENSP00000354957.5",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 1101,
"cds_start": 949,
"cds_end": null,
"cds_length": 3306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015110.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361138.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "ENST00000912980.1",
"protein_id": "ENSP00000583039.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1130,
"cds_start": 949,
"cds_end": null,
"cds_length": 3393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912980.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "ENST00000884400.1",
"protein_id": "ENSP00000554459.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1086,
"cds_start": 949,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884400.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "ENST00000912976.1",
"protein_id": "ENSP00000583035.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1085,
"cds_start": 949,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912976.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "ENST00000912975.1",
"protein_id": "ENSP00000583034.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1077,
"cds_start": 949,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912975.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "ENST00000955050.1",
"protein_id": "ENSP00000625109.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1073,
"cds_start": 949,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955050.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "ENST00000912977.1",
"protein_id": "ENSP00000583036.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1069,
"cds_start": 949,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912977.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "ENST00000912974.1",
"protein_id": "ENSP00000583033.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1063,
"cds_start": 949,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912974.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "ENST00000912972.1",
"protein_id": "ENSP00000583031.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1062,
"cds_start": 949,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912972.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "ENST00000955051.1",
"protein_id": "ENSP00000625110.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1059,
"cds_start": 949,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955051.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Arg270Cys",
"transcript": "ENST00000912973.1",
"protein_id": "ENSP00000583032.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 1054,
"cds_start": 808,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912973.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "ENST00000955053.1",
"protein_id": "ENSP00000625112.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1051,
"cds_start": 949,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955053.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "ENST00000884401.1",
"protein_id": "ENSP00000554460.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1048,
"cds_start": 949,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884401.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "ENST00000912979.1",
"protein_id": "ENSP00000583038.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1044,
"cds_start": 949,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912979.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "ENST00000955052.1",
"protein_id": "ENSP00000625111.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1009,
"cds_start": 949,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955052.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.808C>T",
"hgvs_p": "p.Arg270Cys",
"transcript": "ENST00000912978.1",
"protein_id": "ENSP00000583037.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 947,
"cds_start": 808,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912978.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "XM_005251837.3",
"protein_id": "XP_005251894.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1086,
"cds_start": 949,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251837.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "XM_005251838.3",
"protein_id": "XP_005251895.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1077,
"cds_start": 949,
"cds_end": null,
"cds_length": 3234,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251838.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "XM_017014507.2",
"protein_id": "XP_016869996.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1068,
"cds_start": 949,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014507.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "XM_005251839.3",
"protein_id": "XP_005251896.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1063,
"cds_start": 949,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005251839.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMC5",
"gene_hgnc_id": 20465,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "XM_047423033.1",
"protein_id": "XP_047278989.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1062,
"cds_start": 949,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Likely_benign",
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{
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],
"verdict": "Likely_benign",
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}