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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: 17-77487446-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=77487446&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 77487446,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001113491.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.936C>T",
"hgvs_p": "p.Ser312Ser",
"transcript": "NM_001113491.2",
"protein_id": "NP_001106963.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 586,
"cds_start": 936,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000427177.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113491.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.936C>T",
"hgvs_p": "p.Ser312Ser",
"transcript": "ENST00000427177.6",
"protein_id": "ENSP00000391249.1",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 586,
"cds_start": 936,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001113491.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427177.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.882C>T",
"hgvs_p": "p.Ser294Ser",
"transcript": "NM_006640.5",
"protein_id": "NP_006631.2",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 568,
"cds_start": 882,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000329047.13",
"biotype": "protein_coding",
"feature": "NM_006640.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.882C>T",
"hgvs_p": "p.Ser294Ser",
"transcript": "ENST00000329047.13",
"protein_id": "ENSP00000329161.8",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 568,
"cds_start": 882,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_006640.5",
"biotype": "protein_coding",
"feature": "ENST00000329047.13"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.915C>T",
"hgvs_p": "p.Ser305Ser",
"transcript": "ENST00000423034.6",
"protein_id": "ENSP00000405877.1",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 579,
"cds_start": 915,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423034.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.444C>T",
"hgvs_p": "p.Ser148Ser",
"transcript": "ENST00000427674.6",
"protein_id": "ENSP00000403194.1",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 422,
"cds_start": 444,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427674.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.183C>T",
"hgvs_p": "p.Ser61Ser",
"transcript": "ENST00000541152.6",
"protein_id": "ENSP00000438089.2",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 335,
"cds_start": 183,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541152.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.936C>T",
"hgvs_p": "p.Ser312Ser",
"transcript": "ENST00000873888.1",
"protein_id": "ENSP00000543947.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 585,
"cds_start": 936,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873888.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.936C>T",
"hgvs_p": "p.Ser312Ser",
"transcript": "ENST00000873887.1",
"protein_id": "ENSP00000543946.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 584,
"cds_start": 936,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873887.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.915C>T",
"hgvs_p": "p.Ser305Ser",
"transcript": "NM_001113493.2",
"protein_id": "NP_001106965.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 579,
"cds_start": 915,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113493.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.879C>T",
"hgvs_p": "p.Ser293Ser",
"transcript": "NM_001293695.2",
"protein_id": "NP_001280624.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 567,
"cds_start": 879,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293695.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.879C>T",
"hgvs_p": "p.Ser293Ser",
"transcript": "ENST00000591198.5",
"protein_id": "ENSP00000468406.1",
"transcript_support_level": 2,
"aa_start": 293,
"aa_end": null,
"aa_length": 567,
"cds_start": 879,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591198.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.444C>T",
"hgvs_p": "p.Ser148Ser",
"transcript": "NM_001113492.2",
"protein_id": "NP_001106964.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 422,
"cds_start": 444,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113492.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.444C>T",
"hgvs_p": "p.Ser148Ser",
"transcript": "NM_001113494.1",
"protein_id": "NP_001106966.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 422,
"cds_start": 444,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113494.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.444C>T",
"hgvs_p": "p.Ser148Ser",
"transcript": "ENST00000431235.6",
"protein_id": "ENSP00000406987.2",
"transcript_support_level": 5,
"aa_start": 148,
"aa_end": null,
"aa_length": 422,
"cds_start": 444,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431235.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.444C>T",
"hgvs_p": "p.Ser148Ser",
"transcript": "ENST00000449803.6",
"protein_id": "ENSP00000400181.2",
"transcript_support_level": 2,
"aa_start": 148,
"aa_end": null,
"aa_length": 422,
"cds_start": 444,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449803.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.444C>T",
"hgvs_p": "p.Ser148Ser",
"transcript": "ENST00000588690.6",
"protein_id": "ENSP00000468668.1",
"transcript_support_level": 5,
"aa_start": 148,
"aa_end": null,
"aa_length": 422,
"cds_start": 444,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588690.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Ser88Ser",
"transcript": "NM_001293696.2",
"protein_id": "NP_001280625.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 362,
"cds_start": 264,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293696.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Ser88Ser",
"transcript": "ENST00000585930.5",
"protein_id": "ENSP00000468120.1",
"transcript_support_level": 2,
"aa_start": 88,
"aa_end": null,
"aa_length": 362,
"cds_start": 264,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585930.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.183C>T",
"hgvs_p": "p.Ser61Ser",
"transcript": "NM_001113495.2",
"protein_id": "NP_001106967.2",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 335,
"cds_start": 183,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113495.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.183C>T",
"hgvs_p": "p.Ser61Ser",
"transcript": "NM_001113496.2",
"protein_id": "NP_001106968.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 335,
"cds_start": 183,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113496.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.183C>T",
"hgvs_p": "p.Ser61Ser",
"transcript": "NM_001293697.2",
"protein_id": "NP_001280626.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 335,
"cds_start": 183,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.67,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -18,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -18,
"benign_score": 18,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001113491.2",
"gene_symbol": "SEPTIN9",
"hgnc_id": 7323,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.936C>T",
"hgvs_p": "p.Ser312Ser"
}
],
"clinvar_disease": "Amyotrophic neuralgia,SEPTIN9-related disorder,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"phenotype_combined": "Amyotrophic neuralgia|not specified|not provided|SEPTIN9-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}