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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: 12-121915890-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=121915890&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 121915890,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002813.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.590A>C",
"hgvs_p": "p.Glu197Ala",
"transcript": "NM_002813.7",
"protein_id": "NP_002804.2",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 223,
"cds_start": 590,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000541212.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002813.7"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.590A>C",
"hgvs_p": "p.Glu197Ala",
"transcript": "ENST00000541212.6",
"protein_id": "ENSP00000440485.1",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 223,
"cds_start": 590,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002813.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541212.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "n.*25A>C",
"hgvs_p": null,
"transcript": "ENST00000537407.5",
"protein_id": "ENSP00000445058.1",
"transcript_support_level": 1,
"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": "ENST00000537407.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "n.*25A>C",
"hgvs_p": null,
"transcript": "ENST00000537407.5",
"protein_id": "ENSP00000445058.1",
"transcript_support_level": 1,
"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": "ENST00000537407.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256950",
"gene_hgnc_id": null,
"hgvs_c": "n.*86-5396A>C",
"hgvs_p": null,
"transcript": "ENST00000546333.1",
"protein_id": "ENSP00000477146.1",
"transcript_support_level": 5,
"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": "ENST00000546333.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.662A>C",
"hgvs_p": "p.Glu221Ala",
"transcript": "ENST00000858884.1",
"protein_id": "ENSP00000528943.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 247,
"cds_start": 662,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858884.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.659A>C",
"hgvs_p": "p.Glu220Ala",
"transcript": "ENST00000970345.1",
"protein_id": "ENSP00000640404.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 246,
"cds_start": 659,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970345.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.617A>C",
"hgvs_p": "p.Glu206Ala",
"transcript": "ENST00000922353.1",
"protein_id": "ENSP00000592412.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 232,
"cds_start": 617,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922353.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.614A>C",
"hgvs_p": "p.Glu205Ala",
"transcript": "ENST00000922351.1",
"protein_id": "ENSP00000592410.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 231,
"cds_start": 614,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922351.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.605A>C",
"hgvs_p": "p.Glu202Ala",
"transcript": "ENST00000858885.1",
"protein_id": "ENSP00000528944.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 228,
"cds_start": 605,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858885.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.596A>C",
"hgvs_p": "p.Glu199Ala",
"transcript": "ENST00000858887.1",
"protein_id": "ENSP00000528946.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 225,
"cds_start": 596,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858887.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.Glu196Ala",
"transcript": "ENST00000261817.6",
"protein_id": "ENSP00000261817.2",
"transcript_support_level": 2,
"aa_start": 196,
"aa_end": null,
"aa_length": 222,
"cds_start": 587,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261817.6"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.Glu196Ala",
"transcript": "ENST00000922352.1",
"protein_id": "ENSP00000592411.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 222,
"cds_start": 587,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922352.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.587A>C",
"hgvs_p": "p.Glu196Ala",
"transcript": "ENST00000970344.1",
"protein_id": "ENSP00000640403.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 222,
"cds_start": 587,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970344.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.551A>C",
"hgvs_p": "p.Glu184Ala",
"transcript": "ENST00000922357.1",
"protein_id": "ENSP00000592416.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 210,
"cds_start": 551,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922357.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.548A>C",
"hgvs_p": "p.Glu183Ala",
"transcript": "ENST00000858883.1",
"protein_id": "ENSP00000528942.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 209,
"cds_start": 548,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858883.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.Glu163Ala",
"transcript": "ENST00000858882.1",
"protein_id": "ENSP00000528941.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 189,
"cds_start": 488,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858882.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.479A>C",
"hgvs_p": "p.Glu160Ala",
"transcript": "ENST00000922356.1",
"protein_id": "ENSP00000592415.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 186,
"cds_start": 479,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922356.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.281A>C",
"hgvs_p": "p.Glu94Ala",
"transcript": "ENST00000922354.1",
"protein_id": "ENSP00000592413.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 120,
"cds_start": 281,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922354.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.275A>C",
"hgvs_p": "p.Glu92Ala",
"transcript": "NM_001261400.3",
"protein_id": "NP_001248329.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 118,
"cds_start": 275,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261400.3"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.275A>C",
"hgvs_p": "p.Glu92Ala",
"transcript": "ENST00000542602.1",
"protein_id": "ENSP00000443772.1",
"transcript_support_level": 3,
"aa_start": 92,
"aa_end": null,
"aa_length": 118,
"cds_start": 275,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542602.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD9",
"gene_hgnc_id": 9567,
"hgvs_c": "c.272A>C",
"hgvs_p": "p.Glu91Ala",
"transcript": "ENST00000858886.1",
"protein_id": "ENSP00000528945.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 117,
"cds_start": 272,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858886.1"
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
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{
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}
],
"message": null
}