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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: 2-177392794-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=177392794&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 177392794,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003659.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"transcript": "NM_003659.4",
"protein_id": "NP_003650.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 658,
"cds_start": 5,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264167.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003659.4"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"transcript": "ENST00000264167.11",
"protein_id": "ENSP00000264167.4",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 658,
"cds_start": 5,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003659.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264167.11"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"transcript": "ENST00000642466.2",
"protein_id": "ENSP00000494433.2",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 676,
"cds_start": 5,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642466.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"transcript": "ENST00000927419.1",
"protein_id": "ENSP00000597478.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 657,
"cds_start": 5,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927419.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"transcript": "ENST00000679459.1",
"protein_id": "ENSP00000506137.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 638,
"cds_start": 5,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679459.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"transcript": "ENST00000927420.1",
"protein_id": "ENSP00000597479.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 634,
"cds_start": 5,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927420.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"transcript": "ENST00000884689.1",
"protein_id": "ENSP00000554748.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 631,
"cds_start": 5,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884689.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"transcript": "ENST00000637633.2",
"protein_id": "ENSP00000490844.2",
"transcript_support_level": 5,
"aa_start": 2,
"aa_end": null,
"aa_length": 629,
"cds_start": 5,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637633.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"transcript": "ENST00000884688.1",
"protein_id": "ENSP00000554747.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 628,
"cds_start": 5,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884688.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"transcript": "ENST00000927418.1",
"protein_id": "ENSP00000597477.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 628,
"cds_start": 5,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927418.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"transcript": "ENST00000680770.1",
"protein_id": "ENSP00000505536.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 624,
"cds_start": 5,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680770.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"transcript": "ENST00000927421.1",
"protein_id": "ENSP00000597480.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 616,
"cds_start": 5,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927421.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"transcript": "ENST00000927422.1",
"protein_id": "ENSP00000597481.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 589,
"cds_start": 5,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927422.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"transcript": "ENST00000927423.1",
"protein_id": "ENSP00000597482.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 579,
"cds_start": 5,
"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": "ENST00000927423.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"transcript": "ENST00000409888.1",
"protein_id": "ENSP00000386688.1",
"transcript_support_level": 4,
"aa_start": 2,
"aa_end": null,
"aa_length": 189,
"cds_start": 5,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409888.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "c.5C>A",
"hgvs_p": "p.Ala2Glu",
"transcript": "XM_047446105.1",
"protein_id": "XP_047302061.1",
"transcript_support_level": null,
"aa_start": 2,
"aa_end": null,
"aa_length": 336,
"cds_start": 5,
"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": "XM_047446105.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.47C>A",
"hgvs_p": null,
"transcript": "ENST00000460342.2",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000460342.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.35C>A",
"hgvs_p": null,
"transcript": "ENST00000679421.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000679421.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.35C>A",
"hgvs_p": null,
"transcript": "ENST00000680677.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000680677.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.49C>A",
"hgvs_p": null,
"transcript": "ENST00000680705.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000680705.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.5C>A",
"hgvs_p": null,
"transcript": "ENST00000680893.1",
"protein_id": "ENSP00000505929.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000680893.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGPS",
"gene_hgnc_id": 327,
"hgvs_c": "n.35C>A",
"hgvs_p": null,
"transcript": "ENST00000680910.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000680910.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
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{
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"BS1_Supporting"
],
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{
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],
"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "",
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},
{
"score": 1,
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}