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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: 1-155238209-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155238209&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GBA1",
"hgnc_id": 4177,
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ala229Val",
"inheritance_mode": "AD,AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_000157.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP2",
"acmg_score": 3,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.1333,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.16,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4469670057296753,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 536,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": 823,
"cds_end": null,
"cds_length": 1611,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_000157.4",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ala229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368373.8",
"protein_coding": true,
"protein_id": "NP_000148.2",
"strand": false,
"transcript": "NM_000157.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 536,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": 823,
"cds_end": null,
"cds_length": 1611,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000368373.8",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ala229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000157.4",
"protein_coding": true,
"protein_id": "ENSP00000357357.3",
"strand": false,
"transcript": "ENST00000368373.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 536,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": 919,
"cds_end": null,
"cds_length": 1611,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000327247.9",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ala229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000314508.5",
"strand": false,
"transcript": "ENST00000327247.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 558,
"aa_ref": "A",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2411,
"cdna_start": 944,
"cds_end": null,
"cds_length": 1677,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000948997.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Ala251Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619056.1",
"strand": false,
"transcript": "ENST00000948997.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 543,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": 914,
"cds_end": null,
"cds_length": 1632,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000852365.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ala229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522424.1",
"strand": false,
"transcript": "ENST00000852365.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 543,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2289,
"cdna_start": 800,
"cds_end": null,
"cds_length": 1632,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000852367.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ala229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522426.1",
"strand": false,
"transcript": "ENST00000852367.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 536,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2344,
"cdna_start": 876,
"cds_end": null,
"cds_length": 1611,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001005741.3",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ala229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005741.1",
"strand": false,
"transcript": "NM_001005741.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 536,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2325,
"cdna_start": 857,
"cds_end": null,
"cds_length": 1611,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001005742.3",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ala229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005742.1",
"strand": false,
"transcript": "NM_001005742.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 536,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2407,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1611,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000852359.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ala229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522418.1",
"strand": false,
"transcript": "ENST00000852359.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 536,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": 929,
"cds_end": null,
"cds_length": 1611,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000852360.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ala229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522419.1",
"strand": false,
"transcript": "ENST00000852360.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 536,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 918,
"cds_end": null,
"cds_length": 1611,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000852361.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ala229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522420.1",
"strand": false,
"transcript": "ENST00000852361.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 536,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2518,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 1611,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000852362.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ala229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522421.1",
"strand": false,
"transcript": "ENST00000852362.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 536,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 1611,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000852363.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ala229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522422.1",
"strand": false,
"transcript": "ENST00000852363.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 536,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2488,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 1611,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000852366.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ala229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522425.1",
"strand": false,
"transcript": "ENST00000852366.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 536,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 1611,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000948996.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ala229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619055.1",
"strand": false,
"transcript": "ENST00000948996.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 535,
"aa_ref": "A",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2301,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1608,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000948998.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.686C>T",
"hgvs_p": "p.Ala229Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619057.1",
"strand": false,
"transcript": "ENST00000948998.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 487,
"aa_ref": "A",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2144,
"cdna_start": 676,
"cds_end": null,
"cds_length": 1464,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001171812.2",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ala180Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165283.1",
"strand": false,
"transcript": "NM_001171812.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 487,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 702,
"cds_end": null,
"cds_length": 1464,
"cds_start": 539,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000427500.7",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.539C>T",
"hgvs_p": "p.Ala180Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402577.2",
"strand": false,
"transcript": "ENST00000427500.7",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 449,
"aa_ref": "A",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2161,
"cdna_start": 693,
"cds_end": null,
"cds_length": 1350,
"cds_start": 425,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001171811.2",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.425C>T",
"hgvs_p": "p.Ala142Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165282.1",
"strand": false,
"transcript": "NM_001171811.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 449,
"aa_ref": "A",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1817,
"cdna_start": 765,
"cds_end": null,
"cds_length": 1350,
"cds_start": 425,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000428024.3",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.425C>T",
"hgvs_p": "p.Ala142Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397986.2",
"strand": false,
"transcript": "ENST00000428024.3",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 423,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": 994,
"cds_end": null,
"cds_length": 1272,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000852364.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"intron_rank": null,
"intron_rank_end": null,
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}