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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: 15-77471015-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=77471015&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 77471015,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018200.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "NM_001304504.2",
"protein_id": "NP_001291433.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 347,
"cds_start": 556,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336216.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304504.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "ENST00000336216.9",
"protein_id": "ENSP00000336856.4",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 347,
"cds_start": 556,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001304504.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336216.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "ENST00000381714.7",
"protein_id": "ENSP00000371133.3",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 347,
"cds_start": 556,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381714.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "NM_018200.4",
"protein_id": "NP_060670.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 347,
"cds_start": 556,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018200.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "ENST00000859564.1",
"protein_id": "ENSP00000529622.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 347,
"cds_start": 556,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859564.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "ENST00000859565.1",
"protein_id": "ENSP00000529624.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 347,
"cds_start": 556,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859565.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "ENST00000859566.1",
"protein_id": "ENSP00000529625.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 347,
"cds_start": 556,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859566.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "ENST00000859568.1",
"protein_id": "ENSP00000529627.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 347,
"cds_start": 556,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859568.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "ENST00000859569.1",
"protein_id": "ENSP00000529628.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 347,
"cds_start": 556,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859569.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "ENST00000859571.1",
"protein_id": "ENSP00000529630.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 347,
"cds_start": 556,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859571.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "ENST00000859572.1",
"protein_id": "ENSP00000529631.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 347,
"cds_start": 556,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859572.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "ENST00000938333.1",
"protein_id": "ENSP00000608392.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 347,
"cds_start": 556,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938333.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "ENST00000938334.1",
"protein_id": "ENSP00000608393.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 347,
"cds_start": 556,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938334.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "ENST00000938335.1",
"protein_id": "ENSP00000608394.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 347,
"cds_start": 556,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938335.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "ENST00000938337.1",
"protein_id": "ENSP00000608396.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 347,
"cds_start": 556,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938337.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "ENST00000938338.1",
"protein_id": "ENSP00000608397.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 347,
"cds_start": 556,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938338.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "ENST00000951417.1",
"protein_id": "ENSP00000621476.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 347,
"cds_start": 556,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951417.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "ENST00000859567.1",
"protein_id": "ENSP00000529626.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 343,
"cds_start": 556,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859567.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "ENST00000938336.1",
"protein_id": "ENSP00000608395.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 311,
"cds_start": 556,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938336.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.343C>G",
"hgvs_p": "p.Arg115Gly",
"transcript": "ENST00000859570.1",
"protein_id": "ENSP00000529629.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 276,
"cds_start": 343,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859570.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Arg73Gly",
"transcript": "NM_001304505.2",
"protein_id": "NP_001291434.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 234,
"cds_start": 217,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304505.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMG20A",
"gene_hgnc_id": 5001,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "XM_011521158.4",
"protein_id": "XP_011519460.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 347,
"cds_start": 556,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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},
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{
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"verdict": "Uncertain_significance",
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{
"score": 0,
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],
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}