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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: 17-2597798-GTC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2597798&ref=GTC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 2597798,
"ref": "GTC",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_000430.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.-191+3794_-191+3795delCT",
"hgvs_p": null,
"transcript": "NM_000430.4",
"protein_id": "NP_000421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5589,
"mane_select": "ENST00000397195.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.-191+3793_-191+3794delTC",
"hgvs_p": null,
"transcript": "ENST00000397195.10",
"protein_id": "ENSP00000380378.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5589,
"mane_select": "NM_000430.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "n.50+3793_50+3794delTC",
"hgvs_p": null,
"transcript": "ENST00000572915.6",
"protein_id": null,
"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": 1361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.-191+3793_-191+3794delTC",
"hgvs_p": null,
"transcript": "ENST00000674608.1",
"protein_id": "ENSP00000501976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 428,
"cds_start": -4,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.-191+4469_-191+4470delTC",
"hgvs_p": null,
"transcript": "ENST00000576586.6",
"protein_id": "ENSP00000461087.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.-396+3793_-396+3794delTC",
"hgvs_p": null,
"transcript": "ENST00000675202.1",
"protein_id": "ENSP00000502843.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.-319+3454_-319+3455delTC",
"hgvs_p": null,
"transcript": "ENST00000675331.1",
"protein_id": "ENSP00000502031.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.-268+3793_-268+3794delTC",
"hgvs_p": null,
"transcript": "ENST00000676098.1",
"protein_id": "ENSP00000502735.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.-191+3405_-191+3406delTC",
"hgvs_p": null,
"transcript": "ENST00000676188.1",
"protein_id": "ENSP00000502577.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.-259-1226_-259-1225delTC",
"hgvs_p": null,
"transcript": "ENST00000713986.1",
"protein_id": "ENSP00000519277.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
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"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.-387-1226_-387-1225delTC",
"hgvs_p": null,
"transcript": "ENST00000713987.1",
"protein_id": "ENSP00000519278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1769,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
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"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.-191+3793_-191+3794delTC",
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"transcript": "ENST00000574468.2",
"protein_id": "ENSP00000460591.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 376,
"cds_start": -4,
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"cds_length": 1131,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.-191+3793_-191+3794delTC",
"hgvs_p": null,
"transcript": "ENST00000713983.1",
"protein_id": "ENSP00000519274.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.-429+3793_-429+3794delTC",
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"transcript": "ENST00000570400.2",
"protein_id": "ENSP00000460258.2",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.-226+3793_-226+3794delTC",
"hgvs_p": null,
"transcript": "ENST00000674717.1",
"protein_id": "ENSP00000501931.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"intron_rank": 1,
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"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.-301+3793_-301+3794delTC",
"hgvs_p": null,
"transcript": "ENST00000676353.1",
"protein_id": "ENSP00000502737.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.-546+3793_-546+3794delTC",
"hgvs_p": null,
"transcript": "ENST00000713690.1",
"protein_id": "ENSP00000518994.1",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.-660+3793_-660+3794delTC",
"hgvs_p": null,
"transcript": "ENST00000713984.1",
"protein_id": "ENSP00000519275.1",
"transcript_support_level": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "n.39+3793_39+3794delTC",
"hgvs_p": null,
"transcript": "ENST00000571289.1",
"protein_id": null,
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},
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],
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "n.192+3793_192+3794delTC",
"hgvs_p": null,
"transcript": "ENST00000575477.5",
"protein_id": null,
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},
{
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"strand": true,
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],
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
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"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "n.-191+3793_-191+3794delTC",
"hgvs_p": null,
"transcript": "ENST00000675621.1",
"protein_id": "ENSP00000502117.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "n.-191+3793_-191+3794delTC",
"hgvs_p": null,
"transcript": "ENST00000675764.1",
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],
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{
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"verdict": "Benign",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}