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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: 3-99848865-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=99848865&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "FILIP1L",
"hgnc_id": 24589,
"hgvs_c": "c.2811G>C",
"hgvs_p": "p.Pro937Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001387850.1",
"verdict": "Likely_benign"
},
{
"benign_score": 5,
"criteria": [
"BP4_Strong",
"BP6"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CMSS1",
"hgnc_id": 28666,
"hgvs_c": "c.64+30822C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_032359.4",
"verdict": "Likely_benign"
},
{
"benign_score": 5,
"criteria": [
"BP4_Strong",
"BP6"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC105374010",
"hgnc_id": null,
"hgvs_c": "n.182+30822C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -5,
"transcript": "NR_189163.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BP7",
"acmg_score": -6,
"allele_count_reference_population": 218,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.75,
"chr": "3",
"clinvar_classification": "Likely benign",
"clinvar_disease": "FILIP1L-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.75,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "P",
"aa_start": 937,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5635,
"cdna_start": 3270,
"cds_end": null,
"cds_length": 3573,
"cds_start": 2811,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001387850.1",
"gene_hgnc_id": 24589,
"gene_symbol": "FILIP1L",
"hgvs_c": "c.2811G>C",
"hgvs_p": "p.Pro937Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000477258.2",
"protein_coding": true,
"protein_id": "NP_001374779.1",
"strand": false,
"transcript": "NM_001387850.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "P",
"aa_start": 937,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5635,
"cdna_start": 3270,
"cds_end": null,
"cds_length": 3573,
"cds_start": 2811,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000477258.2",
"gene_hgnc_id": 24589,
"gene_symbol": "FILIP1L",
"hgvs_c": "c.2811G>C",
"hgvs_p": "p.Pro937Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001387850.1",
"protein_coding": true,
"protein_id": "ENSP00000417617.2",
"strand": false,
"transcript": "ENST00000477258.2",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1135,
"aa_ref": "P",
"aa_start": 937,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3970,
"cdna_start": 3282,
"cds_end": null,
"cds_length": 3408,
"cds_start": 2811,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000354552.7",
"gene_hgnc_id": 24589,
"gene_symbol": "FILIP1L",
"hgvs_c": "c.2811G>C",
"hgvs_p": "p.Pro937Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346560.3",
"strand": false,
"transcript": "ENST00000354552.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "P",
"aa_start": 937,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4219,
"cdna_start": 3282,
"cds_end": null,
"cds_length": 3402,
"cds_start": 2811,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000331335.9",
"gene_hgnc_id": 24589,
"gene_symbol": "FILIP1L",
"hgvs_c": "c.2811G>C",
"hgvs_p": "p.Pro937Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000327880.5",
"strand": false,
"transcript": "ENST00000331335.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": 2239,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000471562.1",
"gene_hgnc_id": 24589,
"gene_symbol": "FILIP1L",
"hgvs_c": "c.2091G>C",
"hgvs_p": "p.Pro697Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419642.1",
"strand": false,
"transcript": "ENST00000471562.1",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 893,
"aa_ref": "P",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 2338,
"cds_end": null,
"cds_length": 2682,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000383694.3",
"gene_hgnc_id": 24589,
"gene_symbol": "FILIP1L",
"hgvs_c": "c.2091G>C",
"hgvs_p": "p.Pro697Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000373192.2",
"strand": false,
"transcript": "ENST00000383694.3",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 836,
"aa_ref": "P",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2898,
"cdna_start": 2478,
"cds_end": null,
"cds_length": 2511,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000495625.2",
"gene_hgnc_id": 24589,
"gene_symbol": "FILIP1L",
"hgvs_c": "c.2091G>C",
"hgvs_p": "p.Pro697Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419874.2",
"strand": false,
"transcript": "ENST00000495625.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 279,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4302,
"cdna_start": null,
"cds_end": null,
"cds_length": 840,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_032359.4",
"gene_hgnc_id": 28666,
"gene_symbol": "CMSS1",
"hgvs_c": "c.64+30822C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000421999.8",
"protein_coding": true,
"protein_id": "NP_115735.2",
"strand": true,
"transcript": "NM_032359.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 279,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4302,
"cdna_start": null,
"cds_end": null,
"cds_length": 840,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000421999.8",
"gene_hgnc_id": 28666,
"gene_symbol": "CMSS1",
"hgvs_c": "c.64+30822C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032359.4",
"protein_coding": true,
"protein_id": "ENSP00000410396.2",
"strand": true,
"transcript": "ENST00000421999.8",
"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": 2145,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000496116.1",
"gene_hgnc_id": 28666,
"gene_symbol": "CMSS1",
"hgvs_c": "n.132+30822C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000496116.1",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1135,
"aa_ref": "P",
"aa_start": 937,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3958,
"cdna_start": 3270,
"cds_end": null,
"cds_length": 3408,
"cds_start": 2811,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_182909.4",
"gene_hgnc_id": 24589,
"gene_symbol": "FILIP1L",
"hgvs_c": "c.2811G>C",
"hgvs_p": "p.Pro937Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_878913.2",
"strand": false,
"transcript": "NM_182909.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1133,
"aa_ref": "P",
"aa_start": 937,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4412,
"cdna_start": 3270,
"cds_end": null,
"cds_length": 3402,
"cds_start": 2811,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001042459.3",
"gene_hgnc_id": 24589,
"gene_symbol": "FILIP1L",
"hgvs_c": "c.2811G>C",
"hgvs_p": "p.Pro937Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035924.1",
"strand": false,
"transcript": "NM_001042459.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 950,
"aa_ref": "P",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4673,
"cdna_start": 2308,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001387851.1",
"gene_hgnc_id": 24589,
"gene_symbol": "FILIP1L",
"hgvs_c": "c.2091G>C",
"hgvs_p": "p.Pro697Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374780.1",
"strand": false,
"transcript": "NM_001387851.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2996,
"cdna_start": 2308,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001282794.2",
"gene_hgnc_id": 24589,
"gene_symbol": "FILIP1L",
"hgvs_c": "c.2091G>C",
"hgvs_p": "p.Pro697Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269723.1",
"strand": false,
"transcript": "NM_001282794.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 893,
"aa_ref": "P",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3649,
"cdna_start": 2507,
"cds_end": null,
"cds_length": 2682,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001370247.1",
"gene_hgnc_id": 24589,
"gene_symbol": "FILIP1L",
"hgvs_c": "c.2091G>C",
"hgvs_p": "p.Pro697Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357176.1",
"strand": false,
"transcript": "NM_001370247.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 893,
"aa_ref": "P",
"aa_start": 697,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3450,
"cdna_start": 2308,
"cds_end": null,
"cds_length": 2682,
"cds_start": 2091,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_014890.4",
"gene_hgnc_id": 24589,
"gene_symbol": "FILIP1L",
"hgvs_c": "c.2091G>C",
"hgvs_p": "p.Pro697Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055705.2",
"strand": false,
"transcript": "NM_014890.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2491,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1539,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001282793.2",
"gene_hgnc_id": 24589,
"gene_symbol": "FILIP1L",
"hgvs_c": "c.1539G>C",
"hgvs_p": "p.Pro513Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269722.1",
"strand": false,
"transcript": "NM_001282793.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 1739,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1539,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000487087.6",
"gene_hgnc_id": 24589,
"gene_symbol": "FILIP1L",
"hgvs_c": "c.1539G>C",
"hgvs_p": "p.Pro513Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417774.1",
"strand": false,
"transcript": "ENST00000487087.6",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 973,
"aa_ref": "P",
"aa_start": 777,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14048,
"cdna_start": 12906,
"cds_end": null,
"cds_length": 2922,
"cds_start": 2331,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047447376.1",
"gene_hgnc_id": 24589,
"gene_symbol": "FILIP1L",
"hgvs_c": "c.2331G>C",
"hgvs_p": "p.Pro777Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303332.1",
"strand": false,
"transcript": "XM_047447376.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 945,
"aa_ref": "P",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3522,
"cdna_start": 2380,
"cds_end": null,
"cds_length": 2838,
"cds_start": 2247,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011512371.3",
"gene_hgnc_id": 24589,
"gene_symbol": "FILIP1L",
"hgvs_c": "c.2247G>C",
"hgvs_p": "p.Pro749Pro",
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