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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: 21-32601870-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32601870&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CFAP298",
"hgnc_id": 1301,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Pro289Leu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_021254.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CFAP298-TCP10L",
"hgnc_id": 54636,
"hgvs_c": "c.666+1291C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001350338.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 20,
"alphamissense_prediction": null,
"alphamissense_score": 0.8064,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.14,
"chr": "21",
"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": 0.7349172830581665,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 290,
"aa_ref": "P",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3516,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 873,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_021254.4",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Pro289Leu",
"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": "L",
"aa_end": null,
"aa_length": 290,
"aa_ref": "P",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3516,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 873,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000290155.8",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Pro289Leu",
"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": null,
"aa_end": null,
"aa_length": 245,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2503,
"cdna_start": null,
"cds_end": null,
"cds_length": 738,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000382549.8",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.*1219C>T",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 389,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4781,
"cdna_start": null,
"cds_end": null,
"cds_length": 1170,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000673807.1",
"gene_hgnc_id": 54636,
"gene_symbol": "CFAP298-TCP10L",
"hgvs_c": "c.666+1291C>T",
"hgvs_p": null,
"intron_rank": 5,
"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": "L",
"aa_end": null,
"aa_length": 322,
"aa_ref": "P",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1186,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 969,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000877680.1",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.962C>T",
"hgvs_p": "p.Pro321Leu",
"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": "L",
"aa_end": null,
"aa_length": 321,
"aa_ref": "P",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1505,
"cdna_start": 1302,
"cds_end": null,
"cds_length": 966,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000926992.1",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.959C>T",
"hgvs_p": "p.Pro320Leu",
"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": "L",
"aa_end": null,
"aa_length": 319,
"aa_ref": "P",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": 1555,
"cds_end": null,
"cds_length": 960,
"cds_start": 953,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000877679.1",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.953C>T",
"hgvs_p": "p.Pro318Leu",
"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": "L",
"aa_end": null,
"aa_length": 307,
"aa_ref": "P",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1248,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 924,
"cds_start": 917,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000926995.1",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Pro306Leu",
"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": "L",
"aa_end": null,
"aa_length": 302,
"aa_ref": "P",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1448,
"cdna_start": 1245,
"cds_end": null,
"cds_length": 909,
"cds_start": 902,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000926993.1",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.902C>T",
"hgvs_p": "p.Pro301Leu",
"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": "L",
"aa_end": null,
"aa_length": 290,
"aa_ref": "P",
"aa_start": 289,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1446,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 873,
"cds_start": 866,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000926989.1",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Pro289Leu",
"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": "L",
"aa_end": null,
"aa_length": 287,
"aa_ref": "P",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1421,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 864,
"cds_start": 857,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000926990.1",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.857C>T",
"hgvs_p": "p.Pro286Leu",
"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": "L",
"aa_end": null,
"aa_length": 258,
"aa_ref": "P",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3420,
"cdna_start": 904,
"cds_end": null,
"cds_length": 777,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001350336.2",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.770C>T",
"hgvs_p": "p.Pro257Leu",
"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": "L",
"aa_end": null,
"aa_length": 258,
"aa_ref": "P",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1082,
"cdna_start": 879,
"cds_end": null,
"cds_length": 777,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000440966.5",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.770C>T",
"hgvs_p": "p.Pro257Leu",
"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": "L",
"aa_end": null,
"aa_length": 234,
"aa_ref": "P",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2916,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 705,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000877678.1",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.698C>T",
"hgvs_p": "p.Pro233Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547737.1",
"strand": false,
"transcript": "ENST00000877678.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 214,
"aa_ref": "P",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1184,
"cdna_start": 981,
"cds_end": null,
"cds_length": 645,
"cds_start": 638,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000926991.1",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.638C>T",
"hgvs_p": "p.Pro213Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597050.1",
"strand": false,
"transcript": "ENST00000926991.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 202,
"aa_ref": "P",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1130,
"cdna_start": 927,
"cds_end": null,
"cds_length": 609,
"cds_start": 602,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000926994.1",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.602C>T",
"hgvs_p": "p.Pro201Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597053.1",
"strand": false,
"transcript": "ENST00000926994.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 191,
"aa_ref": "P",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3448,
"cdna_start": 932,
"cds_end": null,
"cds_length": 576,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001350334.2",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.569C>T",
"hgvs_p": "p.Pro190Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337263.1",
"strand": false,
"transcript": "NM_001350334.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 142,
"aa_ref": "P",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 638,
"cdna_start": 553,
"cds_end": null,
"cds_length": 429,
"cds_start": 422,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000877681.1",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Pro141Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547740.1",
"strand": false,
"transcript": "ENST00000877681.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 269,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": null,
"cds_end": null,
"cds_length": 810,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001350337.2",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.*354C>T",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 245,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2294,
"cdna_start": null,
"cds_end": null,
"cds_length": 738,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001350335.2",
"gene_hgnc_id": 1301,
"gene_symbol": "CFAP298",
"hgvs_c": "c.*1219C>T",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 116,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 873,
"cdna_start": null,
"cds_end": null,
"cds_length": 351,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
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