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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: 6-30730522-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30730522&ref=C&alt=T&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": "FLOT1",
"hgnc_id": 3757,
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_005803.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 7,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0732,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13772228360176086,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1866,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 1284,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_005803.4",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376389.8",
"protein_coding": true,
"protein_id": "NP_005794.1",
"strand": false,
"transcript": "NM_005803.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1866,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 1284,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000376389.8",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005803.4",
"protein_coding": true,
"protein_id": "ENSP00000365569.3",
"strand": false,
"transcript": "ENST00000376389.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 462,
"aa_ref": "R",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1879,
"cdna_start": 1306,
"cds_end": null,
"cds_length": 1389,
"cds_start": 1100,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000903950.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.1100G>A",
"hgvs_p": "p.Arg367Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574009.1",
"strand": false,
"transcript": "ENST00000903950.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 440,
"aa_ref": "R",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1786,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1034,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000914089.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584148.1",
"strand": false,
"transcript": "ENST00000914089.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 440,
"aa_ref": "R",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1034,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000946582.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616641.1",
"strand": false,
"transcript": "ENST00000946582.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1630,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 1284,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000903944.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574003.1",
"strand": false,
"transcript": "ENST00000903944.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": 1094,
"cds_end": null,
"cds_length": 1284,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000903945.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574004.1",
"strand": false,
"transcript": "ENST00000903945.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1817,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 1284,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000903948.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574007.1",
"strand": false,
"transcript": "ENST00000903948.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1806,
"cdna_start": 1225,
"cds_end": null,
"cds_length": 1284,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000903949.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574008.1",
"strand": false,
"transcript": "ENST00000903949.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 426,
"aa_ref": "R",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 1281,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000903959.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.992G>A",
"hgvs_p": "p.Arg331Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574018.1",
"strand": false,
"transcript": "ENST00000903959.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 426,
"aa_ref": "R",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1668,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 1281,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000914092.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.992G>A",
"hgvs_p": "p.Arg331Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584151.1",
"strand": false,
"transcript": "ENST00000914092.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 425,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1757,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1278,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000903953.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.989G>A",
"hgvs_p": "p.Arg330Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574012.1",
"strand": false,
"transcript": "ENST00000903953.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 425,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1278,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000946577.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.989G>A",
"hgvs_p": "p.Arg330Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616636.1",
"strand": false,
"transcript": "ENST00000946577.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1275,
"cds_start": 986,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000914090.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Arg329Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584149.1",
"strand": false,
"transcript": "ENST00000914090.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 423,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1828,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 1272,
"cds_start": 983,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000946579.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.983G>A",
"hgvs_p": "p.Arg328Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616638.1",
"strand": false,
"transcript": "ENST00000946579.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1269,
"cds_start": 995,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000903951.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574010.1",
"strand": false,
"transcript": "ENST00000903951.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 419,
"aa_ref": "R",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 1144,
"cds_end": null,
"cds_length": 1260,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000903956.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.971G>A",
"hgvs_p": "p.Arg324Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574015.1",
"strand": false,
"transcript": "ENST00000903956.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 415,
"aa_ref": "R",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 1152,
"cds_end": null,
"cds_length": 1248,
"cds_start": 959,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000903952.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Arg320Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574011.1",
"strand": false,
"transcript": "ENST00000903952.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1239,
"cds_start": 950,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000903954.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.950G>A",
"hgvs_p": "p.Arg317Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574013.1",
"strand": false,
"transcript": "ENST00000903954.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 411,
"aa_ref": "R",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1688,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 1236,
"cds_start": 947,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000946581.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Arg316Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616640.1",
"strand": false,
"transcript": "ENST00000946581.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 394,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1640,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 1185,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000903957.1",
"gene_hgnc_id": 3757,
"gene_symbol": "FLOT1",
"hgvs_c": "c.896G>A",
"hgvs_p": "p.Arg299Gln",
"intron_rank": null,
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