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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: 18-49118864-GCA-CCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=49118864&ref=GCA&alt=CCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DYM",
"hgnc_id": 21317,
"hgvs_c": "c.1789_1791delTGCinsCGG",
"hgvs_p": "p.Cys597Arg",
"inheritance_mode": "AR",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_001353214.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000265128",
"hgnc_id": null,
"hgvs_c": "n.184+2380_184+2382delGCAinsCCG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000585251.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PS1,PP3",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "18",
"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": "R",
"aa_end": null,
"aa_length": 724,
"aa_ref": "C",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10144,
"cdna_start": 2092,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1789,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353214.3",
"gene_hgnc_id": 21317,
"gene_symbol": "DYM",
"hgvs_c": "c.1789_1791delTGCinsCGG",
"hgvs_p": "p.Cys597Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000675505.1",
"protein_coding": true,
"protein_id": "NP_001340143.1",
"strand": false,
"transcript": "NM_001353214.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 724,
"aa_ref": "C",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10144,
"cdna_start": 2092,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1789,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675505.1",
"gene_hgnc_id": 21317,
"gene_symbol": "DYM",
"hgvs_c": "c.1789_1791delTGCinsCGG",
"hgvs_p": "p.Cys597Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001353214.3",
"protein_coding": true,
"protein_id": "ENSP00000501694.1",
"strand": false,
"transcript": "ENST00000675505.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 669,
"aa_ref": "C",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5049,
"cdna_start": 2084,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1624,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000269445.10",
"gene_hgnc_id": 21317,
"gene_symbol": "DYM",
"hgvs_c": "c.1624_1626delTGCinsCGG",
"hgvs_p": "p.Cys542Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000269445.6",
"strand": false,
"transcript": "ENST00000269445.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 724,
"aa_ref": "C",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10402,
"cdna_start": 2350,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1789,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374428.1",
"gene_hgnc_id": 21317,
"gene_symbol": "DYM",
"hgvs_c": "c.1789_1791delTGCinsCGG",
"hgvs_p": "p.Cys597Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361357.1",
"strand": false,
"transcript": "NM_001374428.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 723,
"aa_ref": "C",
"aa_start": 596,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10141,
"cdna_start": 2089,
"cds_end": null,
"cds_length": 2172,
"cds_start": 1786,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353212.3",
"gene_hgnc_id": 21317,
"gene_symbol": "DYM",
"hgvs_c": "c.1786_1788delTGCinsCGG",
"hgvs_p": "p.Cys596Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340141.1",
"strand": false,
"transcript": "NM_001353212.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 723,
"aa_ref": "C",
"aa_start": 596,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10141,
"cdna_start": 2089,
"cds_end": null,
"cds_length": 2172,
"cds_start": 1786,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353213.3",
"gene_hgnc_id": 21317,
"gene_symbol": "DYM",
"hgvs_c": "c.1786_1788delTGCinsCGG",
"hgvs_p": "p.Cys596Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340142.1",
"strand": false,
"transcript": "NM_001353213.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 722,
"aa_ref": "C",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10138,
"cdna_start": 2086,
"cds_end": null,
"cds_length": 2169,
"cds_start": 1783,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374429.1",
"gene_hgnc_id": 21317,
"gene_symbol": "DYM",
"hgvs_c": "c.1783_1785delTGCinsCGG",
"hgvs_p": "p.Cys595Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361358.1",
"strand": false,
"transcript": "NM_001374429.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 711,
"aa_ref": "C",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10239,
"cdna_start": 2092,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1789,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374430.1",
"gene_hgnc_id": 21317,
"gene_symbol": "DYM",
"hgvs_c": "c.1789_1791delTGCinsCGG",
"hgvs_p": "p.Cys597Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361359.1",
"strand": false,
"transcript": "NM_001374430.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 686,
"aa_ref": "C",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10030,
"cdna_start": 2092,
"cds_end": null,
"cds_length": 2061,
"cds_start": 1789,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374431.1",
"gene_hgnc_id": 21317,
"gene_symbol": "DYM",
"hgvs_c": "c.1789_1791delTGCinsCGG",
"hgvs_p": "p.Cys597Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361360.1",
"strand": false,
"transcript": "NM_001374431.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 682,
"aa_ref": "C",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10018,
"cdna_start": 1966,
"cds_end": null,
"cds_length": 2049,
"cds_start": 1663,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374432.1",
"gene_hgnc_id": 21317,
"gene_symbol": "DYM",
"hgvs_c": "c.1663_1665delTGCinsCGG",
"hgvs_p": "p.Cys555Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361361.1",
"strand": false,
"transcript": "NM_001374432.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 669,
"aa_ref": "C",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9979,
"cdna_start": 1927,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1624,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017653.6",
"gene_hgnc_id": 21317,
"gene_symbol": "DYM",
"hgvs_c": "c.1624_1626delTGCinsCGG",
"hgvs_p": "p.Cys542Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060123.3",
"strand": false,
"transcript": "NM_017653.6",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 669,
"aa_ref": "C",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": 2259,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1624,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919568.1",
"gene_hgnc_id": 21317,
"gene_symbol": "DYM",
"hgvs_c": "c.1624_1626delTGCinsCGG",
"hgvs_p": "p.Cys542Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589627.1",
"strand": false,
"transcript": "ENST00000919568.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 669,
"aa_ref": "C",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2536,
"cdna_start": 1906,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1624,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919569.1",
"gene_hgnc_id": 21317,
"gene_symbol": "DYM",
"hgvs_c": "c.1624_1626delTGCinsCGG",
"hgvs_p": "p.Cys542Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589628.1",
"strand": false,
"transcript": "ENST00000919569.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 668,
"aa_ref": "C",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9976,
"cdna_start": 1924,
"cds_end": null,
"cds_length": 2007,
"cds_start": 1621,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353210.3",
"gene_hgnc_id": 21317,
"gene_symbol": "DYM",
"hgvs_c": "c.1621_1623delTGCinsCGG",
"hgvs_p": "p.Cys541Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340139.1",
"strand": false,
"transcript": "NM_001353210.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 668,
"aa_ref": "C",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9976,
"cdna_start": 1924,
"cds_end": null,
"cds_length": 2007,
"cds_start": 1621,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353211.3",
"gene_hgnc_id": 21317,
"gene_symbol": "DYM",
"hgvs_c": "c.1621_1623delTGCinsCGG",
"hgvs_p": "p.Cys541Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340140.1",
"strand": false,
"transcript": "NM_001353211.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 656,
"aa_ref": "C",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10074,
"cdna_start": 1927,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1624,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374433.1",
"gene_hgnc_id": 21317,
"gene_symbol": "DYM",
"hgvs_c": "c.1624_1626delTGCinsCGG",
"hgvs_p": "p.Cys542Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361362.1",
"strand": false,
"transcript": "NM_001374433.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 631,
"aa_ref": "C",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9865,
"cdna_start": 1927,
"cds_end": null,
"cds_length": 1896,
"cds_start": 1624,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374434.1",
"gene_hgnc_id": 21317,
"gene_symbol": "DYM",
"hgvs_c": "c.1624_1626delTGCinsCGG",
"hgvs_p": "p.Cys542Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361363.1",
"strand": false,
"transcript": "NM_001374434.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 630,
"aa_ref": "C",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9862,
"cdna_start": 1924,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1621,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374435.1",
"gene_hgnc_id": 21317,
"gene_symbol": "DYM",
"hgvs_c": "c.1621_1623delTGCinsCGG",
"hgvs_p": "p.Cys541Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361364.1",
"strand": false,
"transcript": "NM_001374435.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 627,
"aa_ref": "C",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9853,
"cdna_start": 1801,
"cds_end": null,
"cds_length": 1884,
"cds_start": 1498,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374436.1",
"gene_hgnc_id": 21317,
"gene_symbol": "DYM",
"hgvs_c": "c.1498_1500delTGCinsCGG",
"hgvs_p": "p.Cys500Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361365.1",
"strand": false,
"transcript": "NM_001374436.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 620,
"aa_ref": "C",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3173,
"cdna_start": 1851,
"cds_end": null,
"cds_length": 1863,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889574.1",
"gene_hgnc_id": 21317,
"gene_symbol": "DYM",
"hgvs_c": "c.1477_1479delTGCinsCGG",
"hgvs_p": "p.Cys493Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559633.1",
"strand": false,
"transcript": "ENST00000889574.1",
"transcript_support_level": null
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