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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: 1-2193896-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=2193896&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FAAP20",
"hgnc_id": 26428,
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Ala67Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001146310.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.2266,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07908350229263306,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 180,
"aa_ref": "G",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 727,
"cdna_start": 236,
"cds_end": null,
"cds_length": 543,
"cds_start": 213,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_182533.4",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Gly71Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378546.9",
"protein_coding": true,
"protein_id": "NP_872339.3",
"strand": false,
"transcript": "NM_182533.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 180,
"aa_ref": "G",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 727,
"cdna_start": 236,
"cds_end": null,
"cds_length": 543,
"cds_start": 213,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000378546.9",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Gly71Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_182533.4",
"protein_coding": true,
"protein_id": "ENSP00000367808.4",
"strand": false,
"transcript": "ENST00000378546.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 194,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1544,
"cdna_start": 212,
"cds_end": null,
"cds_length": 585,
"cds_start": 210,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000420515.1",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "c.210C>T",
"hgvs_p": "p.Gly70Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409721.1",
"strand": false,
"transcript": "ENST00000420515.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2543,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000401813.7",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "n.2052C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000401813.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2313,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000428120.5",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "n.204C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000405430.1",
"strand": false,
"transcript": "ENST00000428120.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 230,
"aa_ref": "A",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2267,
"cdna_start": 973,
"cds_end": null,
"cds_length": 693,
"cds_start": 200,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001146310.2",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "c.200C>T",
"hgvs_p": "p.Ala67Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139782.1",
"strand": false,
"transcript": "NM_001146310.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 189,
"aa_ref": "A",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1394,
"cdna_start": 100,
"cds_end": null,
"cds_length": 570,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001256945.2",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "c.77C>T",
"hgvs_p": "p.Ala26Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243874.2",
"strand": false,
"transcript": "NM_001256945.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 189,
"aa_ref": "A",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1413,
"cdna_start": 103,
"cds_end": null,
"cds_length": 570,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000400919.7",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "c.77C>T",
"hgvs_p": "p.Ala26Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383710.4",
"strand": false,
"transcript": "ENST00000400919.7",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 112,
"aa_ref": "A",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 591,
"cdna_start": 100,
"cds_end": null,
"cds_length": 339,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001256947.2",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "c.77C>T",
"hgvs_p": "p.Ala26Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243876.2",
"strand": false,
"transcript": "NM_001256947.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 112,
"aa_ref": "A",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 569,
"cdna_start": 78,
"cds_end": null,
"cds_length": 339,
"cds_start": 77,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000378543.2",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "c.77C>T",
"hgvs_p": "p.Ala26Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367804.2",
"strand": false,
"transcript": "ENST00000378543.2",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 283,
"aa_ref": "G",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3576,
"cdna_start": 3085,
"cds_end": null,
"cds_length": 852,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001282670.2",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "c.522C>T",
"hgvs_p": "p.Gly174Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269599.1",
"strand": false,
"transcript": "NM_001282670.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 195,
"aa_ref": "G",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1568,
"cdna_start": 236,
"cds_end": null,
"cds_length": 588,
"cds_start": 213,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001256946.2",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Gly71Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243875.2",
"strand": false,
"transcript": "NM_001256946.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 172,
"aa_ref": "G",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 701,
"cdna_start": 237,
"cds_end": null,
"cds_length": 519,
"cds_start": 213,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000904919.1",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Gly71Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574978.1",
"strand": false,
"transcript": "ENST00000904919.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 170,
"aa_ref": "G",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1530,
"cdna_start": 236,
"cds_end": null,
"cds_length": 513,
"cds_start": 213,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001282673.2",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Gly71Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269602.2",
"strand": false,
"transcript": "NM_001282673.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 170,
"aa_ref": "G",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 811,
"cdna_start": 215,
"cds_end": null,
"cds_length": 513,
"cds_start": 213,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000400918.7",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Gly71Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383709.3",
"strand": false,
"transcript": "ENST00000400918.7",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 170,
"aa_ref": "G",
"aa_start": 61,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 698,
"cdna_start": 207,
"cds_end": null,
"cds_length": 513,
"cds_start": 183,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000904918.1",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "c.183C>T",
"hgvs_p": "p.Gly61Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574977.1",
"strand": false,
"transcript": "ENST00000904918.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 160,
"aa_ref": "G",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 664,
"cdna_start": 176,
"cds_end": null,
"cds_length": 483,
"cds_start": 153,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000904920.1",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "c.153C>T",
"hgvs_p": "p.Gly51Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574979.1",
"strand": false,
"transcript": "ENST00000904920.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 132,
"aa_ref": "G",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 580,
"cdna_start": 91,
"cds_end": null,
"cds_length": 399,
"cds_start": 69,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000925510.1",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "c.69C>T",
"hgvs_p": "p.Gly23Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595569.1",
"strand": false,
"transcript": "ENST00000925510.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 336,
"aa_ref": "G",
"aa_start": 212,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1561,
"cdna_start": 997,
"cds_end": null,
"cds_length": 1011,
"cds_start": 636,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047448516.1",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Gly212Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304472.1",
"strand": false,
"transcript": "XM_047448516.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 326,
"aa_ref": "G",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1531,
"cdna_start": 967,
"cds_end": null,
"cds_length": 981,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047448517.1",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Gly202Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304473.1",
"strand": false,
"transcript": "XM_047448517.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 324,
"aa_ref": "G",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1164,
"cdna_start": 600,
"cds_end": null,
"cds_length": 975,
"cds_start": 600,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047448519.1",
"gene_hgnc_id": 26428,
"gene_symbol": "FAAP20",
"hgvs_c": "c.600C>T",
"hgvs_p": "p.Gly200Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304475.1",
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