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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: 4-112646956-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=112646956&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 112646956,
"ref": "G",
"alt": "A",
"effect": "splice_donor_variant,intron_variant",
"transcript": "NM_001370974.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.552+1G>A",
"hgvs_p": null,
"transcript": "NM_016648.4",
"protein_id": "NP_057732.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": null,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344442.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016648.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.552+1G>A",
"hgvs_p": null,
"transcript": "ENST00000344442.10",
"protein_id": "ENSP00000344950.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": null,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016648.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344442.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.552+1G>A",
"hgvs_p": null,
"transcript": "ENST00000509061.5",
"protein_id": "ENSP00000422626.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": null,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509061.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "n.*311+1G>A",
"hgvs_p": null,
"transcript": "ENST00000509622.5",
"protein_id": "ENSP00000422451.1",
"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": "ENST00000509622.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.561+1G>A",
"hgvs_p": null,
"transcript": "ENST00000926151.1",
"protein_id": "ENSP00000596213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 597,
"cds_start": null,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926151.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.552+1G>A",
"hgvs_p": null,
"transcript": "NM_001370974.1",
"protein_id": "NP_001357903.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": null,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370974.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.552+1G>A",
"hgvs_p": null,
"transcript": "NM_001370975.1",
"protein_id": "NP_001357904.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": null,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370975.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.552+1G>A",
"hgvs_p": null,
"transcript": "ENST00000694898.1",
"protein_id": "ENSP00000511576.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": null,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694898.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.552+1G>A",
"hgvs_p": null,
"transcript": "ENST00000895081.1",
"protein_id": "ENSP00000565140.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": null,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895081.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.552+1G>A",
"hgvs_p": null,
"transcript": "ENST00000895087.1",
"protein_id": "ENSP00000565146.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": null,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895087.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.552+1G>A",
"hgvs_p": null,
"transcript": "ENST00000895091.1",
"protein_id": "ENSP00000565150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": null,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895091.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.552+1G>A",
"hgvs_p": null,
"transcript": "NM_001370976.1",
"protein_id": "NP_001357905.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": null,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370976.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.552+1G>A",
"hgvs_p": null,
"transcript": "NM_001370977.1",
"protein_id": "NP_001357906.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": null,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370977.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.552+1G>A",
"hgvs_p": null,
"transcript": "ENST00000511529.2",
"protein_id": "ENSP00000426376.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": null,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511529.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.552+1G>A",
"hgvs_p": null,
"transcript": "ENST00000694896.1",
"protein_id": "ENSP00000511574.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": null,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694896.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.552+1G>A",
"hgvs_p": null,
"transcript": "ENST00000895090.1",
"protein_id": "ENSP00000565149.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": null,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895090.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.552+1G>A",
"hgvs_p": null,
"transcript": "ENST00000895092.1",
"protein_id": "ENSP00000565151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": null,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895092.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.552+1G>A",
"hgvs_p": null,
"transcript": "ENST00000969073.1",
"protein_id": "ENSP00000639132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 594,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969073.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.552+1G>A",
"hgvs_p": null,
"transcript": "NM_001267039.4",
"protein_id": "NP_001253968.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": null,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267039.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.552+1G>A",
"hgvs_p": null,
"transcript": "NM_001370978.1",
"protein_id": "NP_001357907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": null,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370978.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.552+1G>A",
"hgvs_p": null,
"transcript": "NM_015454.3",
"protein_id": "NP_056269.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": null,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015454.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LARP7",
"gene_hgnc_id": 24912,
"hgvs_c": "c.552+1G>A",
"hgvs_p": null,
"transcript": "ENST00000505034.6",
"protein_id": "ENSP00000421541.2",
"transcript_support_level": 2,
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{
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"verdict": "Likely_pathogenic",
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{
"score": 8,
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"PP5_Moderate"
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}