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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: 1-231241390-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=231241390&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 231241390,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_014236.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "NM_014236.4",
"protein_id": "NP_055051.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 680,
"cds_start": 12,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366647.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014236.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "ENST00000366647.9",
"protein_id": "ENSP00000355607.4",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 680,
"cds_start": 12,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014236.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366647.9"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "ENST00000851685.1",
"protein_id": "ENSP00000521744.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 691,
"cds_start": 12,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851685.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "ENST00000926541.1",
"protein_id": "ENSP00000596600.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 686,
"cds_start": 12,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926541.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "ENST00000851681.1",
"protein_id": "ENSP00000521740.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 679,
"cds_start": 12,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851681.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "ENST00000958394.1",
"protein_id": "ENSP00000628453.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 677,
"cds_start": 12,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958394.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "ENST00000851692.1",
"protein_id": "ENSP00000521751.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 674,
"cds_start": 12,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851692.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "ENST00000851683.1",
"protein_id": "ENSP00000521742.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 669,
"cds_start": 12,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851683.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "ENST00000851682.1",
"protein_id": "ENSP00000521741.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 665,
"cds_start": 12,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851682.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "ENST00000851688.1",
"protein_id": "ENSP00000521747.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 656,
"cds_start": 12,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851688.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "ENST00000926542.1",
"protein_id": "ENSP00000596601.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 644,
"cds_start": 12,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926542.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "ENST00000958399.1",
"protein_id": "ENSP00000628458.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 637,
"cds_start": 12,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958399.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "ENST00000958398.1",
"protein_id": "ENSP00000628457.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 636,
"cds_start": 12,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958398.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "ENST00000851690.1",
"protein_id": "ENSP00000521749.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 634,
"cds_start": 12,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851690.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "ENST00000851686.1",
"protein_id": "ENSP00000521745.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 633,
"cds_start": 12,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851686.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "ENST00000851689.1",
"protein_id": "ENSP00000521748.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 627,
"cds_start": 12,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851689.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "ENST00000958396.1",
"protein_id": "ENSP00000628455.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 627,
"cds_start": 12,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958396.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "NM_001316350.2",
"protein_id": "NP_001303279.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 619,
"cds_start": 12,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316350.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "ENST00000926540.1",
"protein_id": "ENSP00000596599.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 612,
"cds_start": 12,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926540.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "ENST00000851684.1",
"protein_id": "ENSP00000521743.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 609,
"cds_start": 12,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851684.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "ENST00000851691.1",
"protein_id": "ENSP00000521750.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 604,
"cds_start": 12,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851691.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPAT",
"gene_hgnc_id": 4416,
"hgvs_c": "c.12C>T",
"hgvs_p": "p.Ser4Ser",
"transcript": "ENST00000958395.1",
"protein_id": "ENSP00000628454.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 599,
"cds_start": 12,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958395.1"
},
{
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
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"effects": [
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{
"score": -4,
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_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
}