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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: 9-128472947-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128472947&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128472947,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000351030.8",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.865T>C",
"hgvs_p": "p.Cys289Arg",
"transcript": "NM_001351578.2",
"protein_id": "NP_001338507.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 912,
"cds_start": 865,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 3862,
"mane_select": "ENST00000351030.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.865T>C",
"hgvs_p": "p.Cys289Arg",
"transcript": "ENST00000351030.8",
"protein_id": "ENSP00000342581.4",
"transcript_support_level": 2,
"aa_start": 289,
"aa_end": null,
"aa_length": 912,
"cds_start": 865,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 3862,
"mane_select": "NM_001351578.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.808T>C",
"hgvs_p": "p.Cys270Arg",
"transcript": "ENST00000393527.8",
"protein_id": "ENSP00000377161.6",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 893,
"cds_start": 808,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 3387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.616T>C",
"hgvs_p": "p.Cys206Arg",
"transcript": "ENST00000434106.7",
"protein_id": "ENSP00000403453.2",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 829,
"cds_start": 616,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 3890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Cys201Arg",
"transcript": "ENST00000372807.10",
"protein_id": "ENSP00000361893.5",
"transcript_support_level": 1,
"aa_start": 201,
"aa_end": null,
"aa_length": 824,
"cds_start": 601,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 2780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.559T>C",
"hgvs_p": "p.Cys187Arg",
"transcript": "ENST00000372791.8",
"protein_id": "ENSP00000361877.3",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 638,
"cds_start": 559,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 2358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.445T>C",
"hgvs_p": "p.Cys149Arg",
"transcript": "ENST00000421776.6",
"protein_id": "ENSP00000395489.2",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 385,
"cds_start": 445,
"cds_end": null,
"cds_length": 1159,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "n.*554T>C",
"hgvs_p": null,
"transcript": "ENST00000444119.7",
"protein_id": "ENSP00000394506.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "n.*554T>C",
"hgvs_p": null,
"transcript": "ENST00000444119.7",
"protein_id": "ENSP00000394506.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.865T>C",
"hgvs_p": "p.Cys289Arg",
"transcript": "NM_001351577.1",
"protein_id": "NP_001338506.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 964,
"cds_start": 865,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 4018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.808T>C",
"hgvs_p": "p.Cys270Arg",
"transcript": "NM_153435.1",
"protein_id": "NP_702913.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 893,
"cds_start": 808,
"cds_end": null,
"cds_length": 2682,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 3805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Cys201Arg",
"transcript": "NM_001351579.2",
"protein_id": "NP_001338508.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 876,
"cds_start": 601,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Cys201Arg",
"transcript": "NM_001351580.2",
"protein_id": "NP_001338509.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 876,
"cds_start": 601,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 4149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.748T>C",
"hgvs_p": "p.Cys250Arg",
"transcript": "NM_001351581.1",
"protein_id": "NP_001338510.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 873,
"cds_start": 748,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 3745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.733T>C",
"hgvs_p": "p.Cys245Arg",
"transcript": "NM_001351582.2",
"protein_id": "NP_001338511.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 868,
"cds_start": 733,
"cds_end": null,
"cds_length": 2607,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 3956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.544T>C",
"hgvs_p": "p.Cys182Arg",
"transcript": "NM_001351583.2",
"protein_id": "NP_001338512.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 857,
"cds_start": 544,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 3852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.616T>C",
"hgvs_p": "p.Cys206Arg",
"transcript": "NM_001242353.2",
"protein_id": "NP_001229282.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 829,
"cds_start": 616,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 3839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.616T>C",
"hgvs_p": "p.Cys206Arg",
"transcript": "NM_153433.2",
"protein_id": "NP_702911.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 829,
"cds_start": 616,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 969,
"cdna_end": null,
"cdna_length": 3880,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.616T>C",
"hgvs_p": "p.Cys206Arg",
"transcript": "ENST00000604420.5",
"protein_id": "ENSP00000473949.2",
"transcript_support_level": 2,
"aa_start": 206,
"aa_end": null,
"aa_length": 829,
"cds_start": 616,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Cys201Arg",
"transcript": "NM_001242352.2",
"protein_id": "NP_001229281.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 824,
"cds_start": 601,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Cys201Arg",
"transcript": "NM_001351584.2",
"protein_id": "NP_001338513.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 824,
"cds_start": 601,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.601T>C",
"hgvs_p": "p.Cys201Arg",
"transcript": "NM_001351585.2",
"protein_id": "NP_001338514.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 824,
"cds_start": 601,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 3993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ODF2",
"gene_hgnc_id": 8114,
"hgvs_c": "c.544T>C",
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{
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}