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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: 5-60904794-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=60904794&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 60904794,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000676185.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ala160Val",
"transcript": "NM_000082.4",
"protein_id": "NP_000073.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 396,
"cds_start": 479,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 9414,
"mane_select": "ENST00000676185.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ala160Val",
"transcript": "ENST00000676185.1",
"protein_id": "ENSP00000501614.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 396,
"cds_start": 479,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 9414,
"mane_select": "NM_000082.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ala160Val",
"transcript": "ENST00000265038.10",
"protein_id": "ENSP00000265038.6",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 415,
"cds_start": 479,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 2034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.*277C>T",
"hgvs_p": null,
"transcript": "ENST00000497892.6",
"protein_id": "ENSP00000501805.1",
"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": 969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.*277C>T",
"hgvs_p": null,
"transcript": "ENST00000497892.6",
"protein_id": "ENSP00000501805.1",
"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": 969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Ala102Val",
"transcript": "NM_001007233.3",
"protein_id": "NP_001007234.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 338,
"cds_start": 305,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 9632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Ala102Val",
"transcript": "ENST00000675042.2",
"protein_id": "ENSP00000502082.2",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 338,
"cds_start": 305,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ala160Val",
"transcript": "ENST00000682217.1",
"protein_id": "ENSP00000507570.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 330,
"cds_start": 479,
"cds_end": null,
"cds_length": 993,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "ENST00000683052.1",
"protein_id": "ENSP00000507072.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 330,
"cds_start": 281,
"cds_end": null,
"cds_length": 993,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ala160Val",
"transcript": "ENST00000439176.6",
"protein_id": "ENSP00000408344.2",
"transcript_support_level": 5,
"aa_start": 160,
"aa_end": null,
"aa_length": 307,
"cds_start": 479,
"cds_end": null,
"cds_length": 924,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 1741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ala160Val",
"transcript": "NM_001007234.3",
"protein_id": "NP_001007235.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 205,
"cds_start": 479,
"cds_end": null,
"cds_length": 618,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ala160Val",
"transcript": "ENST00000675229.1",
"protein_id": "ENSP00000502154.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 205,
"cds_start": 479,
"cds_end": null,
"cds_length": 618,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.*523C>T",
"hgvs_p": null,
"transcript": "ENST00000381118.7",
"protein_id": "ENSP00000370510.3",
"transcript_support_level": 2,
"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": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.324C>T",
"hgvs_p": null,
"transcript": "ENST00000462279.5",
"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": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.252C>T",
"hgvs_p": null,
"transcript": "ENST00000495985.5",
"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": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.*371C>T",
"hgvs_p": null,
"transcript": "ENST00000643034.1",
"protein_id": "ENSP00000496080.1",
"transcript_support_level": null,
"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": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.*309C>T",
"hgvs_p": null,
"transcript": "ENST00000643708.1",
"protein_id": "ENSP00000494199.1",
"transcript_support_level": null,
"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": 2280,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.*118C>T",
"hgvs_p": null,
"transcript": "ENST00000647431.2",
"protein_id": "ENSP00000494726.2",
"transcript_support_level": null,
"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": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.479C>T",
"hgvs_p": null,
"transcript": "ENST00000647486.2",
"protein_id": "ENSP00000494466.2",
"transcript_support_level": null,
"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": 1290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.479C>T",
"hgvs_p": null,
"transcript": "ENST00000675378.1",
"protein_id": "ENSP00000502535.1",
"transcript_support_level": null,
"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": 2165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.*444C>T",
"hgvs_p": null,
"transcript": "ENST00000675452.2",
"protein_id": "ENSP00000506954.1",
"transcript_support_level": null,
"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": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.1087C>T",
"hgvs_p": null,
"transcript": "ENST00000675920.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
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"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:2 O:1",
"phenotype_combined": "Cockayne syndrome type 1|not provided|Cockayne syndrome",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}