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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: 22-24441161-GC-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=24441161&ref=GC&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ADORA2A",
"hgnc_id": 263,
"hgvs_c": "c.911_912delGCinsAT",
"hgvs_p": "p.Arg304His",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_000675.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "SPECC1L-ADORA2A",
"hgnc_id": 49185,
"hgvs_c": "n.*2046_*2047delGCinsAT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000358654.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ADORA2A-AS1",
"hgnc_id": 37122,
"hgvs_c": "n.1270+830_1270+831delGCinsAT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000427813.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2529,
"cdna_start": 1333,
"cds_end": null,
"cds_length": 1239,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000675.6",
"gene_hgnc_id": 263,
"gene_symbol": "ADORA2A",
"hgvs_c": "c.911_912delGCinsAT",
"hgvs_p": "p.Arg304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000337539.12",
"protein_coding": true,
"protein_id": "NP_000666.2",
"strand": true,
"transcript": "NM_000675.6",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2529,
"cdna_start": 1333,
"cds_end": null,
"cds_length": 1239,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000337539.12",
"gene_hgnc_id": 263,
"gene_symbol": "ADORA2A",
"hgvs_c": "c.911_912delGCinsAT",
"hgvs_p": "p.Arg304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000675.6",
"protein_coding": true,
"protein_id": "ENSP00000336630.6",
"strand": true,
"transcript": "ENST00000337539.12",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2630,
"cdna_start": 1435,
"cds_end": null,
"cds_length": 1239,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000618076.3",
"gene_hgnc_id": 263,
"gene_symbol": "ADORA2A",
"hgvs_c": "c.911_912delGCinsAT",
"hgvs_p": "p.Arg304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481552.1",
"strand": true,
"transcript": "ENST00000618076.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 6204,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000358654.2",
"gene_hgnc_id": 49185,
"gene_symbol": "SPECC1L-ADORA2A",
"hgvs_c": "n.*2046_*2047delGCinsAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000351480.2",
"strand": true,
"transcript": "ENST00000358654.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 6204,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000358654.2",
"gene_hgnc_id": 49185,
"gene_symbol": "SPECC1L-ADORA2A",
"hgvs_c": "n.*2046_*2047delGCinsAT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000351480.2",
"strand": true,
"transcript": "ENST00000358654.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2027,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000427813.6",
"gene_hgnc_id": 37122,
"gene_symbol": "ADORA2A-AS1",
"hgvs_c": "n.1270+830_1270+831delGCinsAT",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000427813.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2608,
"cdna_start": 1412,
"cds_end": null,
"cds_length": 1239,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278497.2",
"gene_hgnc_id": 263,
"gene_symbol": "ADORA2A",
"hgvs_c": "c.911_912delGCinsAT",
"hgvs_p": "p.Arg304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265426.1",
"strand": true,
"transcript": "NM_001278497.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 1306,
"cds_end": null,
"cds_length": 1239,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278498.2",
"gene_hgnc_id": 263,
"gene_symbol": "ADORA2A",
"hgvs_c": "c.911_912delGCinsAT",
"hgvs_p": "p.Arg304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265427.1",
"strand": true,
"transcript": "NM_001278498.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2509,
"cdna_start": 1313,
"cds_end": null,
"cds_length": 1239,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278499.2",
"gene_hgnc_id": 263,
"gene_symbol": "ADORA2A",
"hgvs_c": "c.911_912delGCinsAT",
"hgvs_p": "p.Arg304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265428.1",
"strand": true,
"transcript": "NM_001278499.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2413,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 1239,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278500.2",
"gene_hgnc_id": 263,
"gene_symbol": "ADORA2A",
"hgvs_c": "c.911_912delGCinsAT",
"hgvs_p": "p.Arg304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265429.1",
"strand": true,
"transcript": "NM_001278500.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2736,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 1239,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000610595.4",
"gene_hgnc_id": 263,
"gene_symbol": "ADORA2A",
"hgvs_c": "c.911_912delGCinsAT",
"hgvs_p": "p.Arg304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480012.1",
"strand": true,
"transcript": "ENST00000610595.4",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2412,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 1239,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000611543.4",
"gene_hgnc_id": 263,
"gene_symbol": "ADORA2A",
"hgvs_c": "c.911_912delGCinsAT",
"hgvs_p": "p.Arg304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483102.1",
"strand": true,
"transcript": "ENST00000611543.4",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3423,
"cdna_start": 1407,
"cds_end": null,
"cds_length": 1239,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880349.1",
"gene_hgnc_id": 263,
"gene_symbol": "ADORA2A",
"hgvs_c": "c.911_912delGCinsAT",
"hgvs_p": "p.Arg304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550408.1",
"strand": true,
"transcript": "ENST00000880349.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2613,
"cdna_start": 1420,
"cds_end": null,
"cds_length": 1239,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880350.1",
"gene_hgnc_id": 263,
"gene_symbol": "ADORA2A",
"hgvs_c": "c.911_912delGCinsAT",
"hgvs_p": "p.Arg304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550409.1",
"strand": true,
"transcript": "ENST00000880350.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2813,
"cdna_start": 1620,
"cds_end": null,
"cds_length": 1239,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880351.1",
"gene_hgnc_id": 263,
"gene_symbol": "ADORA2A",
"hgvs_c": "c.911_912delGCinsAT",
"hgvs_p": "p.Arg304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550410.1",
"strand": true,
"transcript": "ENST00000880351.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2814,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 1239,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880352.1",
"gene_hgnc_id": 263,
"gene_symbol": "ADORA2A",
"hgvs_c": "c.911_912delGCinsAT",
"hgvs_p": "p.Arg304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550411.1",
"strand": true,
"transcript": "ENST00000880352.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2718,
"cdna_start": 1539,
"cds_end": null,
"cds_length": 1239,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880353.1",
"gene_hgnc_id": 263,
"gene_symbol": "ADORA2A",
"hgvs_c": "c.911_912delGCinsAT",
"hgvs_p": "p.Arg304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550412.1",
"strand": true,
"transcript": "ENST00000880353.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2509,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1239,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880354.1",
"gene_hgnc_id": 263,
"gene_symbol": "ADORA2A",
"hgvs_c": "c.911_912delGCinsAT",
"hgvs_p": "p.Arg304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550413.1",
"strand": true,
"transcript": "ENST00000880354.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1239,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880355.1",
"gene_hgnc_id": 263,
"gene_symbol": "ADORA2A",
"hgvs_c": "c.911_912delGCinsAT",
"hgvs_p": "p.Arg304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550414.1",
"strand": true,
"transcript": "ENST00000880355.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2471,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 1239,
"cds_start": 911,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880356.1",
"gene_hgnc_id": 263,
"gene_symbol": "ADORA2A",
"hgvs_c": "c.911_912delGCinsAT",
"hgvs_p": "p.Arg304His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550415.1",
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