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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: 5-60902446-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=60902446&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 60902446,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000082.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.613G>C",
"hgvs_p": "p.Ala205Pro",
"transcript": "NM_000082.4",
"protein_id": "NP_000073.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 396,
"cds_start": 613,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000676185.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000082.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.613G>C",
"hgvs_p": "p.Ala205Pro",
"transcript": "ENST00000676185.1",
"protein_id": "ENSP00000501614.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 396,
"cds_start": 613,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000082.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676185.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.613G>C",
"hgvs_p": "p.Ala205Pro",
"transcript": "ENST00000265038.10",
"protein_id": "ENSP00000265038.6",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 415,
"cds_start": 613,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265038.10"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.625G>C",
"hgvs_p": "p.Ala209Pro",
"transcript": "ENST00000891473.1",
"protein_id": "ENSP00000561532.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 400,
"cds_start": 625,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891473.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.613G>C",
"hgvs_p": "p.Ala205Pro",
"transcript": "ENST00000891472.1",
"protein_id": "ENSP00000561531.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 369,
"cds_start": 613,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891472.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.439G>C",
"hgvs_p": "p.Ala147Pro",
"transcript": "NM_001007233.3",
"protein_id": "NP_001007234.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 338,
"cds_start": 439,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007233.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.439G>C",
"hgvs_p": "p.Ala147Pro",
"transcript": "ENST00000675042.2",
"protein_id": "ENSP00000502082.2",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 338,
"cds_start": 439,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675042.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.613G>C",
"hgvs_p": "p.Ala205Pro",
"transcript": "ENST00000682217.1",
"protein_id": "ENSP00000507570.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 330,
"cds_start": 613,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682217.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.415G>C",
"hgvs_p": "p.Ala139Pro",
"transcript": "ENST00000683052.1",
"protein_id": "ENSP00000507072.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 330,
"cds_start": 415,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683052.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.625G>C",
"hgvs_p": "p.Ala209Pro",
"transcript": "ENST00000439176.6",
"protein_id": "ENSP00000408344.2",
"transcript_support_level": 5,
"aa_start": 209,
"aa_end": null,
"aa_length": 307,
"cds_start": 625,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439176.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.613G>C",
"hgvs_p": "p.Ala205Pro",
"transcript": "ENST00000940243.1",
"protein_id": "ENSP00000610302.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 303,
"cds_start": 613,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940243.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Ala52Pro",
"transcript": "NM_001290285.2",
"protein_id": "NP_001277214.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 243,
"cds_start": 154,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290285.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.*657G>C",
"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": 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": "ENST00000381118.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.458G>C",
"hgvs_p": null,
"transcript": "ENST00000462279.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000462279.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.289G>C",
"hgvs_p": null,
"transcript": "ENST00000484330.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000484330.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.390G>C",
"hgvs_p": null,
"transcript": "ENST00000495985.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000495985.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.*505G>C",
"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": 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": "ENST00000643034.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.*443G>C",
"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": 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": "ENST00000643708.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.*252G>C",
"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": 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": "ENST00000647431.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.*76G>C",
"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": 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": "ENST00000647486.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.613G>C",
"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": 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": "ENST00000675378.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC8",
"gene_hgnc_id": 3439,
"hgvs_c": "n.*578G>C",
"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": 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": "ENST00000675452.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": "Pathogenic",
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"bayesdelnoaf_prediction": "Pathogenic",
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"clinvar_disease": "Cockayne syndrome type 1,UV-sensitive syndrome 2,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1 O:1",
"phenotype_combined": "Cockayne syndrome type 1|not provided|Cockayne syndrome type 1;UV-sensitive syndrome 2",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}