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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: 1-198696765-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=198696765&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PTPRC",
"hgnc_id": 9666,
"hgvs_c": "c.154A>G",
"hgvs_p": "p.Thr52Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -16,
"transcript": "NM_002838.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1",
"acmg_score": -16,
"allele_count_reference_population": 495,
"alphamissense_prediction": null,
"alphamissense_score": 0.0536,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "1",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Immunodeficiency 104,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0032131969928741455,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1306,
"aa_ref": "T",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5357,
"cdna_start": 295,
"cds_end": null,
"cds_length": 3921,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_002838.5",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.154A>G",
"hgvs_p": "p.Thr52Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000442510.8",
"protein_coding": true,
"protein_id": "NP_002829.3",
"strand": true,
"transcript": "NM_002838.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1306,
"aa_ref": "T",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5357,
"cdna_start": 295,
"cds_end": null,
"cds_length": 3921,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000442510.8",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.154A>G",
"hgvs_p": "p.Thr52Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002838.5",
"protein_coding": true,
"protein_id": "ENSP00000411355.3",
"strand": true,
"transcript": "ENST00000442510.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1145,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6812,
"cdna_start": null,
"cds_end": null,
"cds_length": 3438,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000348564.12",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.100+4392A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000306782.7",
"strand": true,
"transcript": "ENST00000348564.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 599,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": null,
"cds_end": null,
"cds_length": 1800,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000530727.5",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.101-2799A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433536.2",
"strand": true,
"transcript": "ENST00000530727.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "non_stop_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000529828.5",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "n.154A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000469141.1",
"strand": true,
"transcript": "ENST00000529828.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 408,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000391970.3",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "n.75-2799A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000391970.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 264,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000427110.6",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "n.75-2799A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000427110.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 926,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000462363.6",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "n.209-2799A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000462363.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "T",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4699,
"cdna_start": 240,
"cds_end": null,
"cds_length": 3636,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000697631.1",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.154A>G",
"hgvs_p": "p.Thr52Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513363.1",
"strand": true,
"transcript": "ENST00000697631.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 117,
"aa_ref": "T",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 462,
"cdna_start": 261,
"cds_end": null,
"cds_length": 355,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000418674.1",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.154A>G",
"hgvs_p": "p.Thr52Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393360.2",
"strand": true,
"transcript": "ENST00000418674.1",
"transcript_support_level": 2
},
{
"aa_alt": "A",
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"aa_length": 1306,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5333,
"cdna_start": 271,
"cds_end": null,
"cds_length": 3921,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047426381.1",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.154A>G",
"hgvs_p": "p.Thr52Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282337.1",
"strand": true,
"transcript": "XM_047426381.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 1258,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5213,
"cdna_start": 295,
"cds_end": null,
"cds_length": 3777,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_006711472.5",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.154A>G",
"hgvs_p": "p.Thr52Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006711535.1",
"strand": true,
"transcript": "XM_006711472.5",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
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"feature": "ENST00000970625.1",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.101-2799A>G",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640684.1",
"strand": true,
"transcript": "ENST00000970625.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4874,
"cdna_start": null,
"cds_end": null,
"cds_length": 3438,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_080921.4",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.100+4392A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_563578.2",
"strand": true,
"transcript": "NM_080921.4",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 30,
"exon_rank": null,
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"feature": "ENST00000908298.1",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.100+4392A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578357.1",
"strand": true,
"transcript": "ENST00000908298.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970623.1",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.100+4392A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640682.1",
"strand": true,
"transcript": "ENST00000970623.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4675,
"cdna_start": null,
"cds_end": null,
"cds_length": 3438,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970624.1",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.100+4392A>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000640683.1",
"strand": true,
"transcript": "ENST00000970624.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 30,
"exon_rank": null,
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"feature": "ENST00000970626.1",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.100+4392A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000640685.1",
"strand": true,
"transcript": "ENST00000970626.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
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"feature": "ENST00000908299.1",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.100+4392A>G",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000578358.1",
"strand": true,
"transcript": "ENST00000908299.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4407,
"cdna_start": null,
"cds_end": null,
"cds_length": 2883,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000697632.1",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.-456+4392A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513364.1",
"strand": true,
"transcript": "ENST00000697632.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": null,
"cds_end": null,
"cds_length": 2205,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367367.8",
"gene_hgnc_id": 9666,
"gene_symbol": "PTPRC",
"hgvs_c": "c.101-2799A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356337.5",
"strand": true,
"transcript": "ENST00000367367.8",
"transcript_support_level": 2
},
{
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