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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: 16-682047-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=682047&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 682047,
"ref": "C",
"alt": "CT",
"effect": "frameshift_variant",
"transcript": "NM_005861.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STUB1",
"gene_hgnc_id": 11427,
"hgvs_c": "c.646dupT",
"hgvs_p": "p.Ser216fs",
"transcript": "NM_005861.4",
"protein_id": "NP_005852.2",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 303,
"cds_start": 647,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000219548.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005861.4"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STUB1",
"gene_hgnc_id": 11427,
"hgvs_c": "c.646dupT",
"hgvs_p": "p.Ser216fs",
"transcript": "ENST00000219548.9",
"protein_id": "ENSP00000219548.4",
"transcript_support_level": 1,
"aa_start": 216,
"aa_end": null,
"aa_length": 303,
"cds_start": 647,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005861.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000219548.9"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STUB1",
"gene_hgnc_id": 11427,
"hgvs_c": "c.430dupT",
"hgvs_p": "p.Ser144fs",
"transcript": "ENST00000565677.5",
"protein_id": "ENSP00000457228.1",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 231,
"cds_start": 431,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565677.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD8",
"gene_hgnc_id": 14148,
"hgvs_c": "c.*746dupA",
"hgvs_p": null,
"transcript": "NM_001005920.4",
"protein_id": "NP_001005920.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 264,
"cds_start": null,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000609261.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005920.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD8",
"gene_hgnc_id": 14148,
"hgvs_c": "c.*746dupA",
"hgvs_p": null,
"transcript": "ENST00000609261.6",
"protein_id": "ENSP00000477481.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 264,
"cds_start": null,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001005920.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000609261.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD8",
"gene_hgnc_id": 14148,
"hgvs_c": "n.1828dupA",
"hgvs_p": null,
"transcript": "ENST00000567120.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000567120.5"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STUB1",
"gene_hgnc_id": 11427,
"hgvs_c": "c.745dupT",
"hgvs_p": "p.Ser249fs",
"transcript": "ENST00000965393.1",
"protein_id": "ENSP00000635452.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 336,
"cds_start": 746,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965393.1"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STUB1",
"gene_hgnc_id": 11427,
"hgvs_c": "c.679dupT",
"hgvs_p": "p.Ser227fs",
"transcript": "ENST00000880078.1",
"protein_id": "ENSP00000550137.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 314,
"cds_start": 680,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880078.1"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STUB1",
"gene_hgnc_id": 11427,
"hgvs_c": "c.673dupT",
"hgvs_p": "p.Ser225fs",
"transcript": "ENST00000880079.1",
"protein_id": "ENSP00000550138.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 312,
"cds_start": 674,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880079.1"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STUB1",
"gene_hgnc_id": 11427,
"hgvs_c": "c.646dupT",
"hgvs_p": "p.Ser216fs",
"transcript": "ENST00000880076.1",
"protein_id": "ENSP00000550135.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 302,
"cds_start": 647,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880076.1"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STUB1",
"gene_hgnc_id": 11427,
"hgvs_c": "c.499dupT",
"hgvs_p": "p.Ser167fs",
"transcript": "ENST00000880077.1",
"protein_id": "ENSP00000550136.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 254,
"cds_start": 500,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880077.1"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STUB1",
"gene_hgnc_id": 11427,
"hgvs_c": "c.430dupT",
"hgvs_p": "p.Ser144fs",
"transcript": "NM_001293197.2",
"protein_id": "NP_001280126.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 231,
"cds_start": 431,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293197.2"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STUB1",
"gene_hgnc_id": 11427,
"hgvs_c": "c.430dupT",
"hgvs_p": "p.Ser144fs",
"transcript": "ENST00000564370.5",
"protein_id": "ENSP00000456875.1",
"transcript_support_level": 2,
"aa_start": 144,
"aa_end": null,
"aa_length": 231,
"cds_start": 431,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564370.5"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STUB1",
"gene_hgnc_id": 11427,
"hgvs_c": "c.589dupT",
"hgvs_p": "p.Ser197fs",
"transcript": "ENST00000567173.5",
"protein_id": "ENSP00000456591.1",
"transcript_support_level": 3,
"aa_start": 197,
"aa_end": null,
"aa_length": 212,
"cds_start": 590,
"cds_end": null,
"cds_length": 641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567173.5"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STUB1",
"gene_hgnc_id": 11427,
"hgvs_c": "c.361dupT",
"hgvs_p": "p.Ser121fs",
"transcript": "ENST00000566408.5",
"protein_id": "ENSP00000457583.1",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 184,
"cds_start": 362,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566408.5"
},
{
"aa_ref": "S",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STUB1",
"gene_hgnc_id": 11427,
"hgvs_c": "c.193dupT",
"hgvs_p": "p.Ser65fs",
"transcript": "ENST00000917532.1",
"protein_id": "ENSP00000587591.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 152,
"cds_start": 194,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917532.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD8",
"gene_hgnc_id": 14148,
"hgvs_c": "c.*746dupA",
"hgvs_p": null,
"transcript": "ENST00000880262.1",
"protein_id": "ENSP00000550321.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 270,
"cds_start": null,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880262.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD8",
"gene_hgnc_id": 14148,
"hgvs_c": "c.*746dupA",
"hgvs_p": null,
"transcript": "ENST00000880259.1",
"protein_id": "ENSP00000550318.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 263,
"cds_start": null,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880259.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD8",
"gene_hgnc_id": 14148,
"hgvs_c": "c.*746dupA",
"hgvs_p": null,
"transcript": "ENST00000917366.1",
"protein_id": "ENSP00000587425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 263,
"cds_start": null,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917366.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD8",
"gene_hgnc_id": 14148,
"hgvs_c": "c.*746dupA",
"hgvs_p": null,
"transcript": "ENST00000880261.1",
"protein_id": "ENSP00000550320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 259,
"cds_start": null,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880261.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD8",
"gene_hgnc_id": 14148,
"hgvs_c": "c.*746dupA",
"hgvs_p": null,
"transcript": "ENST00000917368.1",
"protein_id": "ENSP00000587427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": null,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917368.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JMJD8",
"gene_hgnc_id": 14148,
"hgvs_c": "c.*746dupA",
"hgvs_p": null,
"transcript": "ENST00000880258.1",
"protein_id": "ENSP00000550317.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": null,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880258.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
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"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_005861.4",
"gene_symbol": "STUB1",
"hgnc_id": 11427,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.646dupT",
"hgvs_p": "p.Ser216fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001005920.4",
"gene_symbol": "JMJD8",
"hgnc_id": 14148,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*746dupA",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive spinocerebellar ataxia 16,Spinocerebellar ataxia 48,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"phenotype_combined": "Autosomal recessive spinocerebellar ataxia 16|Spinocerebellar ataxia 48|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}