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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: 15-40744140-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40744140&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 40744140,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001323896.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Arg273Trp",
"transcript": "NM_018145.3",
"protein_id": "NP_060615.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 470,
"cds_start": 817,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338376.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018145.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Arg273Trp",
"transcript": "ENST00000338376.8",
"protein_id": "ENSP00000342493.3",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 470,
"cds_start": 817,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018145.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338376.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Arg273Trp",
"transcript": "ENST00000260385.10",
"protein_id": "ENSP00000260385.6",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 470,
"cds_start": 817,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260385.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "n.*368C>T",
"hgvs_p": null,
"transcript": "ENST00000558777.5",
"protein_id": "ENSP00000453357.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000558777.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "n.*368C>T",
"hgvs_p": null,
"transcript": "ENST00000558777.5",
"protein_id": "ENSP00000453357.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000558777.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Trp",
"transcript": "NM_001323896.2",
"protein_id": "NP_001310825.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 496,
"cds_start": 895,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323896.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Trp",
"transcript": "NM_001323897.2",
"protein_id": "NP_001310826.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 496,
"cds_start": 895,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323897.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Trp",
"transcript": "ENST00000862132.1",
"protein_id": "ENSP00000532191.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 496,
"cds_start": 895,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862132.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Arg273Trp",
"transcript": "NM_001304802.2",
"protein_id": "NP_001291731.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 470,
"cds_start": 817,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304802.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Arg273Trp",
"transcript": "NM_001323894.2",
"protein_id": "NP_001310823.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 470,
"cds_start": 817,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323894.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Arg273Trp",
"transcript": "ENST00000862129.1",
"protein_id": "ENSP00000532188.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 470,
"cds_start": 817,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862129.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Arg273Trp",
"transcript": "ENST00000862131.1",
"protein_id": "ENSP00000532190.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 470,
"cds_start": 817,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862131.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Arg273Trp",
"transcript": "ENST00000862134.1",
"protein_id": "ENSP00000532193.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 470,
"cds_start": 817,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862134.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Arg273Trp",
"transcript": "ENST00000862138.1",
"protein_id": "ENSP00000532197.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 470,
"cds_start": 817,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862138.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Arg273Trp",
"transcript": "ENST00000951449.1",
"protein_id": "ENSP00000621508.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 470,
"cds_start": 817,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951449.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Trp",
"transcript": "ENST00000919001.1",
"protein_id": "ENSP00000589060.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 469,
"cds_start": 814,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919001.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Arg273Trp",
"transcript": "ENST00000951448.1",
"protein_id": "ENSP00000621507.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 469,
"cds_start": 817,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951448.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Arg273Trp",
"transcript": "ENST00000951451.1",
"protein_id": "ENSP00000621510.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 423,
"cds_start": 817,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951451.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Trp",
"transcript": "ENST00000918999.1",
"protein_id": "ENSP00000589058.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 422,
"cds_start": 673,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918999.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "c.607C>T",
"hgvs_p": "p.Arg203Trp",
"transcript": "ENST00000862136.1",
"protein_id": "ENSP00000532195.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 400,
"cds_start": 607,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862136.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "c.430C>T",
"hgvs_p": "p.Arg144Trp",
"transcript": "NM_001323895.2",
"protein_id": "NP_001310824.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 341,
"cds_start": 430,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323895.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN3",
"gene_hgnc_id": 25550,
"hgvs_c": "c.322C>T",
"hgvs_p": "p.Arg108Trp",
"transcript": "ENST00000558232.5",
"protein_id": "ENSP00000453535.1",
"transcript_support_level": 5,
"aa_start": 108,
"aa_end": null,
"aa_length": 305,
"cds_start": 322,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}