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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: 3-25596428-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=25596428&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 25596428,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000330688.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.1159C>A",
"hgvs_p": "p.Arg387Ser",
"transcript": "NM_000965.5",
"protein_id": "NP_000956.2",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 448,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": "ENST00000330688.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.1159C>A",
"hgvs_p": "p.Arg387Ser",
"transcript": "ENST00000330688.9",
"protein_id": "ENSP00000332296.4",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 448,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": "NM_000965.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.823C>A",
"hgvs_p": "p.Arg275Ser",
"transcript": "ENST00000437042.7",
"protein_id": "ENSP00000398840.2",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 336,
"cds_start": 823,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 2600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.823C>A",
"hgvs_p": "p.Arg275Ser",
"transcript": "ENST00000458646.2",
"protein_id": "ENSP00000391391.1",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 336,
"cds_start": 823,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 2587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.1180C>A",
"hgvs_p": "p.Arg394Ser",
"transcript": "NM_001290216.3",
"protein_id": "NP_001277145.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 455,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1673,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.1180C>A",
"hgvs_p": "p.Arg394Ser",
"transcript": "ENST00000383772.9",
"protein_id": "ENSP00000373282.5",
"transcript_support_level": 5,
"aa_start": 394,
"aa_end": null,
"aa_length": 455,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 3034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.1180C>A",
"hgvs_p": "p.Arg394Ser",
"transcript": "ENST00000686715.1",
"protein_id": "ENSP00000510539.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 455,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 3135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.1180C>A",
"hgvs_p": "p.Arg394Ser",
"transcript": "ENST00000687353.1",
"protein_id": "ENSP00000508588.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 455,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1861,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.1180C>A",
"hgvs_p": "p.Arg394Ser",
"transcript": "ENST00000687676.1",
"protein_id": "ENSP00000510313.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 455,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 3221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.1180C>A",
"hgvs_p": "p.Arg394Ser",
"transcript": "ENST00000688892.1",
"protein_id": "ENSP00000510650.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 455,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 3144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.1030C>A",
"hgvs_p": "p.Arg344Ser",
"transcript": "NM_001290300.2",
"protein_id": "NP_001277229.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 405,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.1021C>A",
"hgvs_p": "p.Arg341Ser",
"transcript": "NM_001290277.1",
"protein_id": "NP_001277206.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 402,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 2994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.1021C>A",
"hgvs_p": "p.Arg341Ser",
"transcript": "ENST00000691912.1",
"protein_id": "ENSP00000510520.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 402,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.1012C>A",
"hgvs_p": "p.Arg338Ser",
"transcript": "NM_001290266.2",
"protein_id": "NP_001277195.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 399,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.823C>A",
"hgvs_p": "p.Arg275Ser",
"transcript": "NM_001290217.2",
"protein_id": "NP_001277146.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 336,
"cds_start": 823,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.823C>A",
"hgvs_p": "p.Arg275Ser",
"transcript": "NM_001290276.2",
"protein_id": "NP_001277205.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 336,
"cds_start": 823,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.823C>A",
"hgvs_p": "p.Arg275Ser",
"transcript": "NM_016152.4",
"protein_id": "NP_057236.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 336,
"cds_start": 823,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.823C>A",
"hgvs_p": "p.Arg275Ser",
"transcript": "ENST00000693261.1",
"protein_id": "ENSP00000508421.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 336,
"cds_start": 823,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 2493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "c.795C>A",
"hgvs_p": "p.Ser265Arg",
"transcript": "ENST00000687083.1",
"protein_id": "ENSP00000509681.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 266,
"cds_start": 795,
"cds_end": null,
"cds_length": 801,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 2124,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "n.1104C>A",
"hgvs_p": null,
"transcript": "ENST00000462272.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 2563,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "n.*548C>A",
"hgvs_p": null,
"transcript": "ENST00000479097.6",
"protein_id": "ENSP00000508755.1",
"transcript_support_level": 3,
"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": 2352,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "n.*135C>A",
"hgvs_p": null,
"transcript": "ENST00000480001.6",
"protein_id": "ENSP00000510647.1",
"transcript_support_level": 3,
"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": 2722,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RARB",
"gene_hgnc_id": 9865,
"hgvs_c": "n.*995C>A",
"hgvs_p": null,
"transcript": "ENST00000685523.1",
"protein_id": "ENSP00000508765.1",
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"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Microphthalmia, syndromic 12",
"pathogenicity_classification_combined": "Pathogenic",
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}
],
"message": null
}