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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: 16-20924009-CCT-TCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=20924009&ref=CCT&alt=TCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "LYRM1",
"hgnc_id": 25074,
"hgvs_c": "c.277_279delCCTinsTCG",
"hgvs_p": "p.Pro93Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001369631.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1378,
"cdna_start": 381,
"cds_end": null,
"cds_length": 369,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001128302.3",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.262_264delCCTinsTCG",
"hgvs_p": "p.Pro88Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000567954.6",
"protein_coding": true,
"protein_id": "NP_001121774.1",
"strand": true,
"transcript": "NM_001128302.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1378,
"cdna_start": 381,
"cds_end": null,
"cds_length": 369,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000567954.6",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.262_264delCCTinsTCG",
"hgvs_p": "p.Pro88Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001128302.3",
"protein_coding": true,
"protein_id": "ENSP00000457333.1",
"strand": true,
"transcript": "ENST00000567954.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1659,
"cdna_start": 662,
"cds_end": null,
"cds_length": 369,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396052.3",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.262_264delCCTinsTCG",
"hgvs_p": "p.Pro88Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379367.2",
"strand": true,
"transcript": "ENST00000396052.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 33,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1399,
"cdna_start": null,
"cds_end": null,
"cds_length": 102,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000412082.6",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.-6_-4delCCTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396868.2",
"strand": true,
"transcript": "ENST00000412082.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 33,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 931,
"cdna_start": null,
"cds_end": null,
"cds_length": 102,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000562740.5",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.-6_-4delCCTinsTCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454759.1",
"strand": true,
"transcript": "ENST00000562740.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 127,
"aa_ref": "P",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1635,
"cdna_start": 638,
"cds_end": null,
"cds_length": 384,
"cds_start": 277,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369631.1",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.277_279delCCTinsTCG",
"hgvs_p": "p.Pro93Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356560.1",
"strand": true,
"transcript": "NM_001369631.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1610,
"cdna_start": 613,
"cds_end": null,
"cds_length": 369,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001128301.3",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.262_264delCCTinsTCG",
"hgvs_p": "p.Pro88Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121773.1",
"strand": true,
"transcript": "NM_001128301.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1721,
"cdna_start": 724,
"cds_end": null,
"cds_length": 369,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001302835.2",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.262_264delCCTinsTCG",
"hgvs_p": "p.Pro88Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289764.1",
"strand": true,
"transcript": "NM_001302835.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1696,
"cdna_start": 699,
"cds_end": null,
"cds_length": 369,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001302836.2",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.262_264delCCTinsTCG",
"hgvs_p": "p.Pro88Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001289765.1",
"strand": true,
"transcript": "NM_001302836.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1382,
"cdna_start": 385,
"cds_end": null,
"cds_length": 369,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369632.1",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.262_264delCCTinsTCG",
"hgvs_p": "p.Pro88Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356561.1",
"strand": true,
"transcript": "NM_001369632.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1614,
"cdna_start": 617,
"cds_end": null,
"cds_length": 369,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369633.1",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.262_264delCCTinsTCG",
"hgvs_p": "p.Pro88Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356562.1",
"strand": true,
"transcript": "NM_001369633.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1464,
"cdna_start": 467,
"cds_end": null,
"cds_length": 369,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369634.1",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.262_264delCCTinsTCG",
"hgvs_p": "p.Pro88Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356563.1",
"strand": true,
"transcript": "NM_001369634.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1284,
"cdna_start": 287,
"cds_end": null,
"cds_length": 369,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369635.1",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.262_264delCCTinsTCG",
"hgvs_p": "p.Pro88Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356564.1",
"strand": true,
"transcript": "NM_001369635.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1460,
"cdna_start": 463,
"cds_end": null,
"cds_length": 369,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369636.1",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.262_264delCCTinsTCG",
"hgvs_p": "p.Pro88Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356565.1",
"strand": true,
"transcript": "NM_001369636.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1342,
"cdna_start": 345,
"cds_end": null,
"cds_length": 369,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369637.1",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.262_264delCCTinsTCG",
"hgvs_p": "p.Pro88Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356566.1",
"strand": true,
"transcript": "NM_001369637.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1574,
"cdna_start": 577,
"cds_end": null,
"cds_length": 369,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369638.1",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.262_264delCCTinsTCG",
"hgvs_p": "p.Pro88Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356567.1",
"strand": true,
"transcript": "NM_001369638.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1572,
"cdna_start": 575,
"cds_end": null,
"cds_length": 369,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369639.1",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.262_264delCCTinsTCG",
"hgvs_p": "p.Pro88Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356568.1",
"strand": true,
"transcript": "NM_001369639.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1393,
"cdna_start": 396,
"cds_end": null,
"cds_length": 369,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369641.1",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.262_264delCCTinsTCG",
"hgvs_p": "p.Pro88Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356570.1",
"strand": true,
"transcript": "NM_001369641.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 784,
"cds_end": null,
"cds_length": 369,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369642.1",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.262_264delCCTinsTCG",
"hgvs_p": "p.Pro88Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356571.1",
"strand": true,
"transcript": "NM_001369642.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1460,
"cdna_start": 463,
"cds_end": null,
"cds_length": 369,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369644.1",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.262_264delCCTinsTCG",
"hgvs_p": "p.Pro88Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356573.1",
"strand": true,
"transcript": "NM_001369644.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 122,
"aa_ref": "P",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1692,
"cdna_start": 695,
"cds_end": null,
"cds_length": 369,
"cds_start": 262,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369645.1",
"gene_hgnc_id": 25074,
"gene_symbol": "LYRM1",
"hgvs_c": "c.262_264delCCTinsTCG",
"hgvs_p": "p.Pro88Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356574.1",
"strand": true,
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}