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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: 21-32604269-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32604269&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CFAP298-TCP10L",
"hgnc_id": 54636,
"hgvs_c": "c.390C>T",
"hgvs_p": "p.Ala130Ala",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_001350338.2",
"verdict": "Likely_benign"
},
{
"benign_score": 5,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CFAP298",
"hgnc_id": 1301,
"hgvs_c": "c.390C>T",
"hgvs_p": "p.Ala130Ala",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_021254.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 84,
"alphamissense_prediction": null,
"alphamissense_score": 0.0623,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"chr": "21",
"clinvar_classification": "Likely benign",
"clinvar_disease": "CFAP298-related disorder,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.029999999329447746,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 290,
"aa_ref": "A",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3516,
"cdna_start": 524,
"cds_end": null,
"cds_length": 873,
"cds_start": 390,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_021254.4",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.390C>T",
"hgvs_p": "p.Ala130Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000290155.8",
"protein_coding": true,
"protein_id": "NP_067077.1",
"strand": false,
"transcript": "NM_021254.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 290,
"aa_ref": "A",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3516,
"cdna_start": 524,
"cds_end": null,
"cds_length": 873,
"cds_start": 390,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000290155.8",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.390C>T",
"hgvs_p": "p.Ala130Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021254.4",
"protein_coding": true,
"protein_id": "ENSP00000290155.3",
"strand": false,
"transcript": "ENST00000290155.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 389,
"aa_ref": "A",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4781,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1170,
"cds_start": 390,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000673807.1",
"gene_hgnc_id": 54636,
"gene_symbol": "CFAP298-TCP10L",
"hgvs_c": "c.390C>T",
"hgvs_p": "p.Ala130Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501088.1",
"strand": false,
"transcript": "ENST00000673807.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 245,
"aa_ref": "A",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2503,
"cdna_start": 733,
"cds_end": null,
"cds_length": 738,
"cds_start": 390,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000382549.8",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.390C>T",
"hgvs_p": "p.Ala130Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371989.4",
"strand": false,
"transcript": "ENST00000382549.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 389,
"aa_ref": "A",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4357,
"cdna_start": 524,
"cds_end": null,
"cds_length": 1170,
"cds_start": 390,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001350338.2",
"gene_hgnc_id": 54636,
"gene_symbol": "CFAP298-TCP10L",
"hgvs_c": "c.390C>T",
"hgvs_p": "p.Ala130Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337267.1",
"strand": false,
"transcript": "NM_001350338.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 373,
"aa_ref": "A",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3001,
"cdna_start": 733,
"cds_end": null,
"cds_length": 1122,
"cds_start": 390,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000673985.1",
"gene_hgnc_id": 54636,
"gene_symbol": "CFAP298-TCP10L",
"hgvs_c": "c.390C>T",
"hgvs_p": "p.Ala130Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500984.1",
"strand": false,
"transcript": "ENST00000673985.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 322,
"aa_ref": "A",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1186,
"cdna_start": 650,
"cds_end": null,
"cds_length": 969,
"cds_start": 486,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000877680.1",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.486C>T",
"hgvs_p": "p.Ala162Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547739.1",
"strand": false,
"transcript": "ENST00000877680.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 321,
"aa_ref": "A",
"aa_start": 161,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1505,
"cdna_start": 826,
"cds_end": null,
"cds_length": 966,
"cds_start": 483,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000926992.1",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.483C>T",
"hgvs_p": "p.Ala161Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597051.1",
"strand": false,
"transcript": "ENST00000926992.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 319,
"aa_ref": "A",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": 1079,
"cds_end": null,
"cds_length": 960,
"cds_start": 477,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000877679.1",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.477C>T",
"hgvs_p": "p.Ala159Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547738.1",
"strand": false,
"transcript": "ENST00000877679.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 317,
"aa_ref": "A",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3883,
"cdna_start": 682,
"cds_end": null,
"cds_length": 954,
"cds_start": 390,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000673945.1",
"gene_hgnc_id": 54636,
"gene_symbol": "CFAP298-TCP10L",
"hgvs_c": "c.390C>T",
"hgvs_p": "p.Ala130Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501020.1",
"strand": false,
"transcript": "ENST00000673945.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 307,
"aa_ref": "A",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1248,
"cdna_start": 569,
"cds_end": null,
"cds_length": 924,
"cds_start": 441,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000926995.1",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.441C>T",
"hgvs_p": "p.Ala147Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597054.1",
"strand": false,
"transcript": "ENST00000926995.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 302,
"aa_ref": "A",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1448,
"cdna_start": 769,
"cds_end": null,
"cds_length": 909,
"cds_start": 426,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000926993.1",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.426C>T",
"hgvs_p": "p.Ala142Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597052.1",
"strand": false,
"transcript": "ENST00000926993.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 295,
"aa_ref": "A",
"aa_start": 97,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 891,
"cdna_start": 293,
"cds_end": null,
"cds_length": 889,
"cds_start": 291,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000431216.5",
"gene_hgnc_id": 54636,
"gene_symbol": "CFAP298-TCP10L",
"hgvs_c": "c.291C>T",
"hgvs_p": "p.Ala97Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391771.1",
"strand": false,
"transcript": "ENST00000431216.5",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 290,
"aa_ref": "A",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1446,
"cdna_start": 863,
"cds_end": null,
"cds_length": 873,
"cds_start": 486,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000926989.1",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.486C>T",
"hgvs_p": "p.Ala162Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597048.1",
"strand": false,
"transcript": "ENST00000926989.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 287,
"aa_ref": "A",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1421,
"cdna_start": 751,
"cds_end": null,
"cds_length": 864,
"cds_start": 390,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000926990.1",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.390C>T",
"hgvs_p": "p.Ala130Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597049.1",
"strand": false,
"transcript": "ENST00000926990.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 269,
"aa_ref": "A",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": 524,
"cds_end": null,
"cds_length": 810,
"cds_start": 390,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001350337.2",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.390C>T",
"hgvs_p": "p.Ala130Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337266.1",
"strand": false,
"transcript": "NM_001350337.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 258,
"aa_ref": "A",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3420,
"cdna_start": 524,
"cds_end": null,
"cds_length": 777,
"cds_start": 390,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001350336.2",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.390C>T",
"hgvs_p": "p.Ala130Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337265.1",
"strand": false,
"transcript": "NM_001350336.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 258,
"aa_ref": "A",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1082,
"cdna_start": 499,
"cds_end": null,
"cds_length": 777,
"cds_start": 390,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000440966.5",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.390C>T",
"hgvs_p": "p.Ala130Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411467.1",
"strand": false,
"transcript": "ENST00000440966.5",
"transcript_support_level": 3
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 252,
"aa_ref": "A",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1624,
"cdna_start": 102,
"cds_end": null,
"cds_length": 759,
"cds_start": 102,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000553001.2",
"gene_hgnc_id": 54636,
"gene_symbol": "CFAP298-TCP10L",
"hgvs_c": "c.102C>T",
"hgvs_p": "p.Ala34Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446874.2",
"strand": false,
"transcript": "ENST00000553001.2",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 245,
"aa_ref": "A",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2294,
"cdna_start": 524,
"cds_end": null,
"cds_length": 738,
"cds_start": 390,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001350335.2",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.390C>T",
"hgvs_p": "p.Ala130Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337264.1",
"strand": false,
"transcript": "NM_001350335.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 234,
"aa_ref": "A",
"aa_start": 74,
"biotype": "protein_coding",
"canonical": false,
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}
]
}