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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: 1-113904606-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=113904606&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 113904606,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000369569.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "NM_001253852.3",
"protein_id": "NP_001240781.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 739,
"cds_start": 112,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": "ENST00000369569.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "ENST00000369569.6",
"protein_id": "ENSP00000358582.1",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 739,
"cds_start": 112,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 3173,
"mane_select": "NM_001253852.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "ENST00000256658.8",
"protein_id": "ENSP00000256658.4",
"transcript_support_level": 1,
"aa_start": 38,
"aa_end": null,
"aa_length": 739,
"cds_start": 112,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 2742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.-58A>G",
"hgvs_p": null,
"transcript": "NM_001253853.3",
"protein_id": "NP_001240782.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": -4,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "NM_001438373.1",
"protein_id": "NP_001425302.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 739,
"cds_start": 112,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "NM_006594.5",
"protein_id": "NP_006585.2",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 739,
"cds_start": 112,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 3254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "ENST00000369571.3",
"protein_id": "ENSP00000358584.3",
"transcript_support_level": 3,
"aa_start": 38,
"aa_end": null,
"aa_length": 739,
"cds_start": 112,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 2730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "ENST00000713590.1",
"protein_id": "ENSP00000518886.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 739,
"cds_start": 112,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 2743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "ENST00000713645.1",
"protein_id": "ENSP00000518947.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 739,
"cds_start": 112,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "NM_001437822.1",
"protein_id": "NP_001424751.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 664,
"cds_start": 112,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 3029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "ENST00000369564.6",
"protein_id": "ENSP00000358577.2",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 664,
"cds_start": 112,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "NM_001438374.1",
"protein_id": "NP_001425303.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 646,
"cds_start": 112,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.-58A>G",
"hgvs_p": null,
"transcript": "NM_001253853.3",
"protein_id": "NP_001240782.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": -4,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "NM_001438375.1",
"protein_id": "NP_001425304.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 635,
"cds_start": 112,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "NM_001308312.2",
"protein_id": "NP_001295241.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 571,
"cds_start": 112,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "NM_001438376.1",
"protein_id": "NP_001425305.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 571,
"cds_start": 112,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "ENST00000369567.6",
"protein_id": "ENSP00000358580.1",
"transcript_support_level": 2,
"aa_start": 38,
"aa_end": null,
"aa_length": 571,
"cds_start": 112,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "ENST00000432415.6",
"protein_id": "ENSP00000393622.2",
"transcript_support_level": 3,
"aa_start": 38,
"aa_end": null,
"aa_length": 571,
"cds_start": 112,
"cds_end": null,
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"cdna_start": 267,
"cdna_end": null,
"cdna_length": 2188,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "NM_001438377.1",
"protein_id": "NP_001425306.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 560,
"cds_start": 112,
"cds_end": null,
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"cdna_start": 275,
"cdna_end": null,
"cdna_length": 2717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "NM_001438378.1",
"protein_id": "NP_001425307.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 542,
"cds_start": 112,
"cds_end": null,
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"cdna_start": 275,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "NM_001438379.1",
"protein_id": "NP_001425308.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 467,
"cds_start": 112,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 2357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.112A>G",
"hgvs_p": "p.Arg38Gly",
"transcript": "XM_047439052.1",
"protein_id": "XP_047295008.1",
"transcript_support_level": null,
"aa_start": 38,
"aa_end": null,
"aa_length": 453,
"cds_start": 112,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 1553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"verdict": "Likely_pathogenic",
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Hereditary spastic paraplegia 47|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}