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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: 16-20469557-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=20469557&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 20469557,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001308172.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "NM_001308172.2",
"protein_id": "NP_001295101.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 577,
"cds_start": 434,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000573854.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308172.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "ENST00000573854.6",
"protein_id": "ENSP00000459451.1",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 577,
"cds_start": 434,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001308172.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573854.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "ENST00000219054.10",
"protein_id": "ENSP00000219054.6",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 577,
"cds_start": 434,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000219054.10"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "ENST00000396104.2",
"protein_id": "ENSP00000379411.2",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 577,
"cds_start": 434,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396104.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "n.609T>C",
"hgvs_p": null,
"transcript": "ENST00000570698.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000570698.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "NM_001308954.2",
"protein_id": "NP_001295883.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 577,
"cds_start": 434,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308954.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "ENST00000575690.5",
"protein_id": "ENSP00000460349.1",
"transcript_support_level": 2,
"aa_start": 145,
"aa_end": null,
"aa_length": 577,
"cds_start": 434,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575690.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "ENST00000910835.1",
"protein_id": "ENSP00000580894.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 577,
"cds_start": 434,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910835.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "ENST00000910837.1",
"protein_id": "ENSP00000580896.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 577,
"cds_start": 434,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910837.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "ENST00000910839.1",
"protein_id": "ENSP00000580898.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 577,
"cds_start": 434,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910839.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "ENST00000910843.1",
"protein_id": "ENSP00000580902.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 577,
"cds_start": 434,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910843.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "ENST00000910846.1",
"protein_id": "ENSP00000580905.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 577,
"cds_start": 434,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910846.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "ENST00000910848.1",
"protein_id": "ENSP00000580907.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 577,
"cds_start": 434,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910848.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "ENST00000910850.1",
"protein_id": "ENSP00000580909.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 577,
"cds_start": 434,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910850.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "ENST00000910851.1",
"protein_id": "ENSP00000580910.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 577,
"cds_start": 434,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910851.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "ENST00000910852.1",
"protein_id": "ENSP00000580911.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 577,
"cds_start": 434,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910852.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "ENST00000910847.1",
"protein_id": "ENSP00000580906.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 576,
"cds_start": 434,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910847.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "ENST00000910842.1",
"protein_id": "ENSP00000580901.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 575,
"cds_start": 434,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910842.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "ENST00000910836.1",
"protein_id": "ENSP00000580895.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 561,
"cds_start": 434,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910836.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "ENST00000910841.1",
"protein_id": "ENSP00000580900.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 561,
"cds_start": 434,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910841.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "ENST00000910840.1",
"protein_id": "ENSP00000580899.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 551,
"cds_start": 434,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910840.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSM2A",
"gene_hgnc_id": 32017,
"hgvs_c": "c.434T>C",
"hgvs_p": "p.Ile145Thr",
"transcript": "ENST00000910844.1",
"protein_id": "ENSP00000580903.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 543,
"cds_start": 434,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Uncertain_significance",
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{
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"criteria": [
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],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}