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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: 17-77482288-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=77482288&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 77482288,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001113491.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "NM_001113491.2",
"protein_id": "NP_001106963.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 586,
"cds_start": 866,
"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": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "ENST00000427177.6",
"protein_id": "ENSP00000391249.1",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 586,
"cds_start": 866,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271His",
"transcript": "NM_006640.5",
"protein_id": "NP_006631.2",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 568,
"cds_start": 812,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271His",
"transcript": "ENST00000329047.13",
"protein_id": "ENSP00000329161.8",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 568,
"cds_start": 812,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Arg282His",
"transcript": "ENST00000423034.6",
"protein_id": "ENSP00000405877.1",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 579,
"cds_start": 845,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.374G>A",
"hgvs_p": "p.Arg125His",
"transcript": "ENST00000427674.6",
"protein_id": "ENSP00000403194.1",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 422,
"cds_start": 374,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38His",
"transcript": "ENST00000541152.6",
"protein_id": "ENSP00000438089.2",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 335,
"cds_start": 113,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "ENST00000873888.1",
"protein_id": "ENSP00000543947.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 585,
"cds_start": 866,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His",
"transcript": "ENST00000873887.1",
"protein_id": "ENSP00000543946.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 584,
"cds_start": 866,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Arg282His",
"transcript": "NM_001113493.2",
"protein_id": "NP_001106965.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 579,
"cds_start": 845,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Arg270His",
"transcript": "NM_001293695.2",
"protein_id": "NP_001280624.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 567,
"cds_start": 809,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.809G>A",
"hgvs_p": "p.Arg270His",
"transcript": "ENST00000591198.5",
"protein_id": "ENSP00000468406.1",
"transcript_support_level": 2,
"aa_start": 270,
"aa_end": null,
"aa_length": 567,
"cds_start": 809,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.374G>A",
"hgvs_p": "p.Arg125His",
"transcript": "NM_001113492.2",
"protein_id": "NP_001106964.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 422,
"cds_start": 374,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.374G>A",
"hgvs_p": "p.Arg125His",
"transcript": "NM_001113494.1",
"protein_id": "NP_001106966.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 422,
"cds_start": 374,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.374G>A",
"hgvs_p": "p.Arg125His",
"transcript": "ENST00000431235.6",
"protein_id": "ENSP00000406987.2",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 422,
"cds_start": 374,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.374G>A",
"hgvs_p": "p.Arg125His",
"transcript": "ENST00000449803.6",
"protein_id": "ENSP00000400181.2",
"transcript_support_level": 2,
"aa_start": 125,
"aa_end": null,
"aa_length": 422,
"cds_start": 374,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.374G>A",
"hgvs_p": "p.Arg125His",
"transcript": "ENST00000588690.6",
"protein_id": "ENSP00000468668.1",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 422,
"cds_start": 374,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.194G>A",
"hgvs_p": "p.Arg65His",
"transcript": "NM_001293696.2",
"protein_id": "NP_001280625.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 362,
"cds_start": 194,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.194G>A",
"hgvs_p": "p.Arg65His",
"transcript": "ENST00000585930.5",
"protein_id": "ENSP00000468120.1",
"transcript_support_level": 2,
"aa_start": 65,
"aa_end": null,
"aa_length": 362,
"cds_start": 194,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38His",
"transcript": "NM_001113495.2",
"protein_id": "NP_001106967.2",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 335,
"cds_start": 113,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38His",
"transcript": "NM_001113496.2",
"protein_id": "NP_001106968.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 335,
"cds_start": 113,
"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": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPTIN9",
"gene_hgnc_id": 7323,
"hgvs_c": "c.113G>A",
"hgvs_p": "p.Arg38His",
"transcript": "NM_001293697.2",
"protein_id": "NP_001280626.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 335,
"cds_start": 113,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"dbsnp": "rs587781247",
"frequency_reference_population": 0.000012398565,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000109521,
"gnomad_genomes_af": 0.000026285,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6540215015411377,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.36,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7999,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.831,
"phylop100way_prediction": "Uncertain_significance",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001113491.2",
"gene_symbol": "SEPTIN9",
"hgnc_id": 7323,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.866G>A",
"hgvs_p": "p.Arg289His"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Charcot-Marie-Tooth disease|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}