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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: 18-49118866-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=49118866&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 49118866,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000675505.1",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1789T>C",
"hgvs_p": "p.Cys597Arg",
"transcript": "NM_001353214.3",
"protein_id": "NP_001340143.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 724,
"cds_start": 1789,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2090,
"cdna_end": null,
"cdna_length": 10144,
"mane_select": "ENST00000675505.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1789T>C",
"hgvs_p": "p.Cys597Arg",
"transcript": "ENST00000675505.1",
"protein_id": "ENSP00000501694.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 724,
"cds_start": 1789,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2090,
"cdna_end": null,
"cdna_length": 10144,
"mane_select": "NM_001353214.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1624T>C",
"hgvs_p": "p.Cys542Arg",
"transcript": "ENST00000269445.10",
"protein_id": "ENSP00000269445.6",
"transcript_support_level": 1,
"aa_start": 542,
"aa_end": null,
"aa_length": 669,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 2082,
"cdna_end": null,
"cdna_length": 5049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1789T>C",
"hgvs_p": "p.Cys597Arg",
"transcript": "NM_001374428.1",
"protein_id": "NP_001361357.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 724,
"cds_start": 1789,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2348,
"cdna_end": null,
"cdna_length": 10402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1786T>C",
"hgvs_p": "p.Cys596Arg",
"transcript": "NM_001353212.3",
"protein_id": "NP_001340141.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 723,
"cds_start": 1786,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 10141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1786T>C",
"hgvs_p": "p.Cys596Arg",
"transcript": "NM_001353213.3",
"protein_id": "NP_001340142.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 723,
"cds_start": 1786,
"cds_end": null,
"cds_length": 2172,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 10141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1783T>C",
"hgvs_p": "p.Cys595Arg",
"transcript": "NM_001374429.1",
"protein_id": "NP_001361358.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 722,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2084,
"cdna_end": null,
"cdna_length": 10138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1789T>C",
"hgvs_p": "p.Cys597Arg",
"transcript": "NM_001374430.1",
"protein_id": "NP_001361359.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 711,
"cds_start": 1789,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 2090,
"cdna_end": null,
"cdna_length": 10239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1789T>C",
"hgvs_p": "p.Cys597Arg",
"transcript": "NM_001374431.1",
"protein_id": "NP_001361360.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 686,
"cds_start": 1789,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 2090,
"cdna_end": null,
"cdna_length": 10030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1663T>C",
"hgvs_p": "p.Cys555Arg",
"transcript": "NM_001374432.1",
"protein_id": "NP_001361361.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 682,
"cds_start": 1663,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 10018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1624T>C",
"hgvs_p": "p.Cys542Arg",
"transcript": "NM_017653.6",
"protein_id": "NP_060123.3",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 669,
"cds_start": 1624,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 9979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1621T>C",
"hgvs_p": "p.Cys541Arg",
"transcript": "NM_001353210.3",
"protein_id": "NP_001340139.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 668,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 9976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1621T>C",
"hgvs_p": "p.Cys541Arg",
"transcript": "NM_001353211.3",
"protein_id": "NP_001340140.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 668,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 9976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1624T>C",
"hgvs_p": "p.Cys542Arg",
"transcript": "NM_001374433.1",
"protein_id": "NP_001361362.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 656,
"cds_start": 1624,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 10074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1624T>C",
"hgvs_p": "p.Cys542Arg",
"transcript": "NM_001374434.1",
"protein_id": "NP_001361363.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 631,
"cds_start": 1624,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 9865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1621T>C",
"hgvs_p": "p.Cys541Arg",
"transcript": "NM_001374435.1",
"protein_id": "NP_001361364.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 630,
"cds_start": 1621,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 9862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1498T>C",
"hgvs_p": "p.Cys500Arg",
"transcript": "NM_001374436.1",
"protein_id": "NP_001361365.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 627,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 9853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1441T>C",
"hgvs_p": "p.Cys481Arg",
"transcript": "NM_001374437.1",
"protein_id": "NP_001361366.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 608,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1742,
"cdna_end": null,
"cdna_length": 9796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1396T>C",
"hgvs_p": "p.Cys466Arg",
"transcript": "NM_001374440.1",
"protein_id": "NP_001361369.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 593,
"cds_start": 1396,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 9751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1219T>C",
"hgvs_p": "p.Cys407Arg",
"transcript": "NM_001374441.1",
"protein_id": "NP_001361370.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 534,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 9574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1054T>C",
"hgvs_p": "p.Cys352Arg",
"transcript": "NM_001374442.1",
"protein_id": "NP_001361371.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 479,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 9409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
"hgvs_c": "c.1054T>C",
"hgvs_p": "p.Cys352Arg",
"transcript": "ENST00000442713.6",
"protein_id": "ENSP00000395942.2",
"transcript_support_level": 2,
"aa_start": 352,
"aa_end": null,
"aa_length": 479,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYM",
"gene_hgnc_id": 21317,
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"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000585251.1",
"gene_symbol": "ENSG00000265128",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.184+2382A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Smith-McCort dysplasia 1",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Smith-McCort dysplasia 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}