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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: 1-25301552-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=25301552&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 25301552,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000328664.9",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHD",
"gene_hgnc_id": 10009,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "NM_016124.6",
"protein_id": "NP_057208.3",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 417,
"cds_start": 667,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 2814,
"mane_select": "ENST00000328664.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHD",
"gene_hgnc_id": 10009,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "ENST00000328664.9",
"protein_id": "ENSP00000331871.4",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 417,
"cds_start": 667,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 2814,
"mane_select": "NM_016124.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHD",
"gene_hgnc_id": 10009,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "ENST00000342055.9",
"protein_id": "ENSP00000339577.5",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 493,
"cds_start": 667,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHD",
"gene_hgnc_id": 10009,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "ENST00000568195.5",
"protein_id": "ENSP00000456966.1",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 463,
"cds_start": 667,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 1467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHD",
"gene_hgnc_id": 10009,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "ENST00000423810.6",
"protein_id": "ENSP00000399640.2",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 431,
"cds_start": 667,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 1637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHD",
"gene_hgnc_id": 10009,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "ENST00000357542.8",
"protein_id": "ENSP00000350150.4",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 396,
"cds_start": 667,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 1387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHD",
"gene_hgnc_id": 10009,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "ENST00000417538.6",
"protein_id": "ENSP00000396420.2",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 378,
"cds_start": 667,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 1333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHD",
"gene_hgnc_id": 10009,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "ENST00000454452.6",
"protein_id": "ENSP00000413849.2",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 321,
"cds_start": 667,
"cds_end": null,
"cds_length": 966,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 1303,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHD",
"gene_hgnc_id": 10009,
"hgvs_c": "n.822T>C",
"hgvs_p": null,
"transcript": "ENST00000564398.5",
"protein_id": null,
"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": 1441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHD",
"gene_hgnc_id": 10009,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "NM_001282871.2",
"protein_id": "NP_001269800.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 493,
"cds_start": 667,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHD",
"gene_hgnc_id": 10009,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "NM_001282870.1",
"protein_id": "NP_001269799.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 463,
"cds_start": 667,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 2763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHD",
"gene_hgnc_id": 10009,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "NM_001282872.1",
"protein_id": "NP_001269801.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 431,
"cds_start": 667,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"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": "RHD",
"gene_hgnc_id": 10009,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "ENST00000622561.4",
"protein_id": "ENSP00000478087.1",
"transcript_support_level": 5,
"aa_start": 223,
"aa_end": null,
"aa_length": 431,
"cds_start": 667,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 3007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHD",
"gene_hgnc_id": 10009,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "NM_001282869.2",
"protein_id": "NP_001269798.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 396,
"cds_start": 667,
"cds_end": null,
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"cdna_start": 706,
"cdna_end": null,
"cdna_length": 2660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHD",
"gene_hgnc_id": 10009,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "NM_001282868.1",
"protein_id": "NP_001269797.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 378,
"cds_start": 667,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 2629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHD",
"gene_hgnc_id": 10009,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "ENST00000648012.1",
"protein_id": "ENSP00000498055.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 345,
"cds_start": 667,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 776,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHD",
"gene_hgnc_id": 10009,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "NM_001127691.3",
"protein_id": "NP_001121163.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 321,
"cds_start": 667,
"cds_end": null,
"cds_length": 966,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHD",
"gene_hgnc_id": 10009,
"hgvs_c": "c.169T>C",
"hgvs_p": "p.Phe57Leu",
"transcript": "NM_001282867.1",
"protein_id": "NP_001269796.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 251,
"cds_start": 169,
"cds_end": null,
"cds_length": 756,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHD",
"gene_hgnc_id": 10009,
"hgvs_c": "c.667T>C",
"hgvs_p": "p.Phe223Leu",
"transcript": "XM_017002015.2",
"protein_id": "XP_016857504.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 425,
"cds_start": 667,
"cds_end": null,
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"cdna_start": 729,
"cdna_end": null,
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"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHD",
"gene_hgnc_id": 10009,
"hgvs_c": "n.667T>C",
"hgvs_p": null,
"transcript": "ENST00000423253.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RSRP1",
"gene_hgnc_id": 25234,
"hgvs_c": "c.-67+35488A>G",
"hgvs_p": null,
"transcript": "NM_001321772.2",
"protein_id": "NP_001308701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": -4,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RSRP1",
"gene_hgnc_id": 25234,
"hgvs_c": "c.-67+36426A>G",
"hgvs_p": null,
"transcript": "ENST00000561867.1",
"protein_id": "ENSP00000456995.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 95,
"cds_start": -4,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RSRP1",
"gene_hgnc_id": 25234,
"hgvs_c": "c.-67+36517A>G",
"hgvs_p": null,
"transcript": "ENST00000568996.1",
"protein_id": "ENSP00000458042.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 88,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"PP3_Strong"
],
"verdict": "Likely_pathogenic",
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{
"score": 6,
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"criteria": [
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"PP3_Strong"
],
"verdict": "Likely_pathogenic",
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],
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}