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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: 17-80112699-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=80112699&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM1",
"PM2",
"PP2",
"BP4",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GAA",
"hgnc_id": 4065,
"hgvs_c": "c.1876T>G",
"hgvs_p": "p.Ser626Ala",
"inheritance_mode": "AR",
"pathogenic_score": 5,
"score": 3,
"transcript": "NM_000152.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP2,BP4,BP6",
"acmg_score": 3,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.0737,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "17",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " type II,Cardiovascular phenotype,Glycogen storage disease",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3383370041847229,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 952,
"aa_ref": "S",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3751,
"cdna_start": 2218,
"cds_end": null,
"cds_length": 2859,
"cds_start": 1876,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_000152.5",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "c.1876T>G",
"hgvs_p": "p.Ser626Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000302262.8",
"protein_coding": true,
"protein_id": "NP_000143.2",
"strand": true,
"transcript": "NM_000152.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 952,
"aa_ref": "S",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3751,
"cdna_start": 2218,
"cds_end": null,
"cds_length": 2859,
"cds_start": 1876,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000302262.8",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "c.1876T>G",
"hgvs_p": "p.Ser626Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000152.5",
"protein_coding": true,
"protein_id": "ENSP00000305692.3",
"strand": true,
"transcript": "ENST00000302262.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 952,
"aa_ref": "S",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3549,
"cdna_start": 2020,
"cds_end": null,
"cds_length": 2859,
"cds_start": 1876,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000390015.7",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "c.1876T>G",
"hgvs_p": "p.Ser626Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000374665.3",
"strand": true,
"transcript": "ENST00000390015.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 957,
"aa_ref": "S",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3487,
"cdna_start": 1955,
"cds_end": null,
"cds_length": 2874,
"cds_start": 1891,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000933406.1",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "c.1891T>G",
"hgvs_p": "p.Ser631Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603465.1",
"strand": true,
"transcript": "ENST00000933406.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 952,
"aa_ref": "S",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3566,
"cdna_start": 2033,
"cds_end": null,
"cds_length": 2859,
"cds_start": 1876,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001079803.3",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "c.1876T>G",
"hgvs_p": "p.Ser626Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073271.1",
"strand": true,
"transcript": "NM_001079803.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 952,
"aa_ref": "S",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": 1953,
"cds_end": null,
"cds_length": 2859,
"cds_start": 1876,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001079804.3",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "c.1876T>G",
"hgvs_p": "p.Ser626Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001073272.1",
"strand": true,
"transcript": "NM_001079804.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 952,
"aa_ref": "S",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3661,
"cdna_start": 2128,
"cds_end": null,
"cds_length": 2859,
"cds_start": 1876,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001406741.1",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "c.1876T>G",
"hgvs_p": "p.Ser626Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393670.1",
"strand": true,
"transcript": "NM_001406741.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 952,
"aa_ref": "S",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3601,
"cdna_start": 2068,
"cds_end": null,
"cds_length": 2859,
"cds_start": 1876,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001406742.1",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "c.1876T>G",
"hgvs_p": "p.Ser626Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393671.1",
"strand": true,
"transcript": "NM_001406742.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 952,
"aa_ref": "S",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3522,
"cdna_start": 2001,
"cds_end": null,
"cds_length": 2859,
"cds_start": 1876,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000570803.6",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "c.1876T>G",
"hgvs_p": "p.Ser626Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460543.2",
"strand": true,
"transcript": "ENST00000570803.6",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 952,
"aa_ref": "S",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3594,
"cdna_start": 2073,
"cds_end": null,
"cds_length": 2859,
"cds_start": 1876,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000577106.6",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "c.1876T>G",
"hgvs_p": "p.Ser626Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458306.2",
"strand": true,
"transcript": "ENST00000577106.6",
"transcript_support_level": 3
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 952,
"aa_ref": "S",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3537,
"cdna_start": 2170,
"cds_end": null,
"cds_length": 2859,
"cds_start": 1876,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000714057.1",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "c.1876T>G",
"hgvs_p": "p.Ser626Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519347.1",
"strand": true,
"transcript": "ENST00000714057.1",
"transcript_support_level": null
},
{
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"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3571,
"cdna_start": 2052,
"cds_end": null,
"cds_length": 2859,
"cds_start": 1876,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000714058.1",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "c.1876T>G",
"hgvs_p": "p.Ser626Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519348.1",
"strand": true,
"transcript": "ENST00000714058.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3586,
"cdna_start": 2055,
"cds_end": null,
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"cds_start": 1876,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
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"feature": "ENST00000945487.1",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "c.1876T>G",
"hgvs_p": "p.Ser626Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615546.1",
"strand": true,
"transcript": "ENST00000945487.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 952,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 2106,
"cds_end": null,
"cds_length": 2859,
"cds_start": 1876,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000945488.1",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "c.1876T>G",
"hgvs_p": "p.Ser626Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615547.1",
"strand": true,
"transcript": "ENST00000945488.1",
"transcript_support_level": null
},
{
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"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3657,
"cdna_start": 2218,
"cds_end": null,
"cds_length": 2769,
"cds_start": 1876,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000714055.1",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "c.1876T>G",
"hgvs_p": "p.Ser626Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519345.1",
"strand": true,
"transcript": "ENST00000714055.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 922,
"aa_ref": "S",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3373,
"cdna_start": 1934,
"cds_end": null,
"cds_length": 2769,
"cds_start": 1876,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000933405.1",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "c.1876T>G",
"hgvs_p": "p.Ser626Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603464.1",
"strand": true,
"transcript": "ENST00000933405.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 685,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 1380,
"cds_end": null,
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"cds_start": 1075,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000714054.1",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "c.1075T>G",
"hgvs_p": "p.Ser359Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519344.1",
"strand": true,
"transcript": "ENST00000714054.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1238,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000714062.1",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "c.955T>G",
"hgvs_p": "p.Ser319Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519352.1",
"strand": true,
"transcript": "ENST00000714062.1",
"transcript_support_level": null
},
{
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"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 2253,
"cds_end": null,
"cds_length": 2859,
"cds_start": 1876,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047435719.1",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "c.1876T>G",
"hgvs_p": "p.Ser626Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291675.1",
"strand": true,
"transcript": "XM_047435719.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 807,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3055,
"cdna_start": null,
"cds_end": null,
"cds_length": 2424,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933404.1",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "c.1754+599T>G",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603463.1",
"strand": true,
"transcript": "ENST00000933404.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 534,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000570716.1",
"gene_hgnc_id": 4065,
"gene_symbol": "GAA",
"hgvs_c": "n.316T>G",
"hgvs_p": null,
"intron_rank": null,
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}