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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: 10-95847652-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95847652&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "ENTPD1",
"hgnc_id": 3363,
"hgvs_c": "c.1098C>A",
"hgvs_p": "p.Tyr366*",
"inheritance_mode": "AR",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_001440932.1",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENTPD1-AS1",
"hgnc_id": 45203,
"hgvs_c": "n.1509G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000661375.1",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000240527",
"hgnc_id": null,
"hgvs_c": "n.260+13885C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000433113.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_score": 10,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.54,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5400000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 510,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12493,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1020,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001776.6",
"gene_hgnc_id": 3363,
"gene_symbol": "ENTPD1",
"hgvs_c": "c.1020C>A",
"hgvs_p": "p.Tyr340*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371205.5",
"protein_coding": true,
"protein_id": "NP_001767.3",
"strand": true,
"transcript": "NM_001776.6",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 510,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12493,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1020,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000371205.5",
"gene_hgnc_id": 3363,
"gene_symbol": "ENTPD1",
"hgvs_c": "c.1020C>A",
"hgvs_p": "p.Tyr340*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001776.6",
"protein_coding": true,
"protein_id": "ENSP00000360248.4",
"strand": true,
"transcript": "ENST00000371205.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 517,
"aa_ref": "Y",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5044,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1041,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000453258.6",
"gene_hgnc_id": 3363,
"gene_symbol": "ENTPD1",
"hgvs_c": "c.1041C>A",
"hgvs_p": "p.Tyr347*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390955.2",
"strand": true,
"transcript": "ENST00000453258.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1638,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000635076.1",
"gene_hgnc_id": 3363,
"gene_symbol": "ENTPD1",
"hgvs_c": "n.*595C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489250.1",
"strand": true,
"transcript": "ENST00000635076.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1638,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000635076.1",
"gene_hgnc_id": 3363,
"gene_symbol": "ENTPD1",
"hgvs_c": "n.*595C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489250.1",
"strand": true,
"transcript": "ENST00000635076.1",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 536,
"aa_ref": "Y",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12613,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1098,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001440932.1",
"gene_hgnc_id": 3363,
"gene_symbol": "ENTPD1",
"hgvs_c": "c.1098C>A",
"hgvs_p": "p.Tyr366*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427861.1",
"strand": true,
"transcript": "NM_001440932.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 522,
"aa_ref": "Y",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12515,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1056,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001164178.1",
"gene_hgnc_id": 3363,
"gene_symbol": "ENTPD1",
"hgvs_c": "c.1056C>A",
"hgvs_p": "p.Tyr352*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157650.1",
"strand": true,
"transcript": "NM_001164178.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 522,
"aa_ref": "Y",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1056,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000371207.8",
"gene_hgnc_id": 3363,
"gene_symbol": "ENTPD1",
"hgvs_c": "c.1056C>A",
"hgvs_p": "p.Tyr352*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360250.3",
"strand": true,
"transcript": "ENST00000371207.8",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 517,
"aa_ref": "Y",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12630,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1041,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001098175.2",
"gene_hgnc_id": 3363,
"gene_symbol": "ENTPD1",
"hgvs_c": "c.1041C>A",
"hgvs_p": "p.Tyr347*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001091645.1",
"strand": true,
"transcript": "NM_001098175.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 517,
"aa_ref": "Y",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13029,
"cdna_start": 1633,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1041,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001440933.1",
"gene_hgnc_id": 3363,
"gene_symbol": "ENTPD1",
"hgvs_c": "c.1041C>A",
"hgvs_p": "p.Tyr347*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427862.1",
"strand": true,
"transcript": "NM_001440933.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 517,
"aa_ref": "Y",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12675,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1041,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001440934.1",
"gene_hgnc_id": 3363,
"gene_symbol": "ENTPD1",
"hgvs_c": "c.1041C>A",
"hgvs_p": "p.Tyr347*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427863.1",
"strand": true,
"transcript": "NM_001440934.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 486,
"aa_ref": "Y",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13830,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1056,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001440935.1",
"gene_hgnc_id": 3363,
"gene_symbol": "ENTPD1",
"hgvs_c": "c.1056C>A",
"hgvs_p": "p.Tyr352*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427864.1",
"strand": true,
"transcript": "NM_001440935.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 482,
"aa_ref": "Y",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2163,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1449,
"cds_start": 1056,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001320916.1",
"gene_hgnc_id": 3363,
"gene_symbol": "ENTPD1",
"hgvs_c": "c.1056C>A",
"hgvs_p": "p.Tyr352*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307845.1",
"strand": true,
"transcript": "NM_001320916.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 481,
"aa_ref": "Y",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12392,
"cdna_start": 996,
"cds_end": null,
"cds_length": 1446,
"cds_start": 933,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001440936.1",
"gene_hgnc_id": 3363,
"gene_symbol": "ENTPD1",
"hgvs_c": "c.933C>A",
"hgvs_p": "p.Tyr311*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427865.1",
"strand": true,
"transcript": "NM_001440936.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 473,
"aa_ref": "Y",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3028,
"cdna_start": 986,
"cds_end": null,
"cds_length": 1422,
"cds_start": 909,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859526.1",
"gene_hgnc_id": 3363,
"gene_symbol": "ENTPD1",
"hgvs_c": "c.909C>A",
"hgvs_p": "p.Tyr303*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529585.1",
"strand": true,
"transcript": "ENST00000859526.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 470,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 1097,
"cds_end": null,
"cds_length": 1413,
"cds_start": 1020,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001440937.1",
"gene_hgnc_id": 3363,
"gene_symbol": "ENTPD1",
"hgvs_c": "c.1020C>A",
"hgvs_p": "p.Tyr340*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427866.1",
"strand": true,
"transcript": "NM_001440937.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 469,
"aa_ref": "Y",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12370,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1410,
"cds_start": 897,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001164179.2",
"gene_hgnc_id": 3363,
"gene_symbol": "ENTPD1",
"hgvs_c": "c.897C>A",
"hgvs_p": "p.Tyr299*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157651.1",
"strand": true,
"transcript": "NM_001164179.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 469,
"aa_ref": "Y",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3654,
"cdna_start": 981,
"cds_end": null,
"cds_length": 1410,
"cds_start": 897,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859524.1",
"gene_hgnc_id": 3363,
"gene_symbol": "ENTPD1",
"hgvs_c": "c.897C>A",
"hgvs_p": "p.Tyr299*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529583.1",
"strand": true,
"transcript": "ENST00000859524.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 468,
"aa_ref": "Y",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3017,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1407,
"cds_start": 894,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859525.1",
"gene_hgnc_id": 3363,
"gene_symbol": "ENTPD1",
"hgvs_c": "c.894C>A",
"hgvs_p": "p.Tyr298*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529584.1",
"strand": true,
"transcript": "ENST00000859525.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 464,
"aa_ref": "Y",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3662,
"cdna_start": 1129,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1020,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000953039.1",
"gene_hgnc_id": 3363,
"gene_symbol": "ENTPD1",
"hgvs_c": "c.1020C>A",
"hgvs_p": "p.Tyr340*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623098.1",
"strand": true,
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