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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: 6-99435828-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=99435828&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 99435828,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001080481.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.2333A>T",
"hgvs_p": "p.Asn778Ile",
"transcript": "NM_001346022.3",
"protein_id": "NP_001332951.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 814,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000500704.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346022.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.2333A>T",
"hgvs_p": "p.Asn778Ile",
"transcript": "ENST00000500704.7",
"protein_id": "ENSP00000424372.1",
"transcript_support_level": 5,
"aa_start": 778,
"aa_end": null,
"aa_length": 814,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001346022.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000500704.7"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.2333A>T",
"hgvs_p": "p.Asn778Ile",
"transcript": "ENST00000327681.10",
"protein_id": "ENSP00000333376.6",
"transcript_support_level": 1,
"aa_start": 778,
"aa_end": null,
"aa_length": 814,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327681.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "n.*1299A>T",
"hgvs_p": null,
"transcript": "ENST00000496518.6",
"protein_id": "ENSP00000421248.1",
"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": "ENST00000496518.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "n.*1299A>T",
"hgvs_p": null,
"transcript": "ENST00000496518.6",
"protein_id": "ENSP00000421248.1",
"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": "ENST00000496518.6"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.2333A>T",
"hgvs_p": "p.Asn778Ile",
"transcript": "NM_001080481.3",
"protein_id": "NP_001073950.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 814,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080481.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.2333A>T",
"hgvs_p": "p.Asn778Ile",
"transcript": "NM_001346021.3",
"protein_id": "NP_001332950.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 814,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346021.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.2333A>T",
"hgvs_p": "p.Asn778Ile",
"transcript": "ENST00000917069.1",
"protein_id": "ENSP00000587128.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 814,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917069.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.2330A>T",
"hgvs_p": "p.Asn777Ile",
"transcript": "NM_001346023.3",
"protein_id": "NP_001332952.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 813,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346023.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.2330A>T",
"hgvs_p": "p.Asn777Ile",
"transcript": "ENST00000917068.1",
"protein_id": "ENSP00000587127.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 813,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917068.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.2279A>T",
"hgvs_p": "p.Asn760Ile",
"transcript": "ENST00000917070.1",
"protein_id": "ENSP00000587129.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 796,
"cds_start": 2279,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917070.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.2189A>T",
"hgvs_p": "p.Asn730Ile",
"transcript": "ENST00000369233.6",
"protein_id": "ENSP00000358236.2",
"transcript_support_level": 5,
"aa_start": 730,
"aa_end": null,
"aa_length": 766,
"cds_start": 2189,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369233.6"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.2159A>T",
"hgvs_p": "p.Asn720Ile",
"transcript": "NM_001346024.3",
"protein_id": "NP_001332953.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 756,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346024.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.2156A>T",
"hgvs_p": "p.Asn719Ile",
"transcript": "NM_001346025.3",
"protein_id": "NP_001332954.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 755,
"cds_start": 2156,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346025.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "NM_001346027.3",
"protein_id": "NP_001332956.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 454,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346027.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "NM_001346028.3",
"protein_id": "NP_001332957.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 454,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346028.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.1253A>T",
"hgvs_p": "p.Asn418Ile",
"transcript": "NM_001346029.3",
"protein_id": "NP_001332958.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 454,
"cds_start": 1253,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346029.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.2333A>T",
"hgvs_p": "p.Asn778Ile",
"transcript": "XM_005267170.5",
"protein_id": "XP_005267227.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 814,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267170.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.2333A>T",
"hgvs_p": "p.Asn778Ile",
"transcript": "XM_047419422.1",
"protein_id": "XP_047275378.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 814,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419422.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.1295A>T",
"hgvs_p": "p.Asn432Ile",
"transcript": "XM_017011381.1",
"protein_id": "XP_016866870.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 468,
"cds_start": 1295,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011381.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.*13A>T",
"hgvs_p": null,
"transcript": "NM_001346026.3",
"protein_id": "NP_001332955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346026.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP45",
"gene_hgnc_id": 20080,
"hgvs_c": "c.*13A>T",
"hgvs_p": null,
"transcript": "XM_047419423.1",
"protein_id": "XP_047275379.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 721,
"cds_start": null,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
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"cdna_length": null,
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],
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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{
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],
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}