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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: 22-44731792-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=44731792&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PRR5",
"hgnc_id": 31682,
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Met152Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001198721.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PRR5-ARHGAP8",
"hgnc_id": 34512,
"hgvs_c": "c.385A>G",
"hgvs_p": "p.Met129Val",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000352766.11",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.117,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"chr": "22",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.19422262907028198,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 388,
"aa_ref": "M",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1872,
"cdna_start": 656,
"cds_end": null,
"cds_length": 1167,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_181333.4",
"gene_hgnc_id": 31682,
"gene_symbol": "PRR5",
"hgvs_c": "c.385A>G",
"hgvs_p": "p.Met129Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000336985.11",
"protein_coding": true,
"protein_id": "NP_851850.1",
"strand": true,
"transcript": "NM_181333.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 388,
"aa_ref": "M",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1872,
"cdna_start": 656,
"cds_end": null,
"cds_length": 1167,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000336985.11",
"gene_hgnc_id": 31682,
"gene_symbol": "PRR5",
"hgvs_c": "c.385A>G",
"hgvs_p": "p.Met129Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_181333.4",
"protein_coding": true,
"protein_id": "ENSP00000337464.6",
"strand": true,
"transcript": "ENST00000336985.11",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 643,
"aa_ref": "M",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2043,
"cdna_start": 385,
"cds_end": null,
"cds_length": 1932,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000352766.11",
"gene_hgnc_id": 34512,
"gene_symbol": "PRR5-ARHGAP8",
"hgvs_c": "c.385A>G",
"hgvs_p": "p.Met129Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262731.11",
"strand": true,
"transcript": "ENST00000352766.11",
"transcript_support_level": 2
},
{
"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": 2125,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000495017.5",
"gene_hgnc_id": 31682,
"gene_symbol": "PRR5",
"hgvs_c": "n.909A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000495017.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 411,
"aa_ref": "M",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1236,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001198721.2",
"gene_hgnc_id": 31682,
"gene_symbol": "PRR5",
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Met152Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185650.1",
"strand": true,
"transcript": "NM_001198721.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 411,
"aa_ref": "M",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1236,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000403581.5",
"gene_hgnc_id": 31682,
"gene_symbol": "PRR5",
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Met152Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384848.1",
"strand": true,
"transcript": "ENST00000403581.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 379,
"aa_ref": "M",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1639,
"cdna_start": 423,
"cds_end": null,
"cds_length": 1140,
"cds_start": 358,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001017528.3",
"gene_hgnc_id": 31682,
"gene_symbol": "PRR5",
"hgvs_c": "c.358A>G",
"hgvs_p": "p.Met120Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001017528.1",
"strand": true,
"transcript": "NM_001017528.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 379,
"aa_ref": "M",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1740,
"cdna_start": 524,
"cds_end": null,
"cds_length": 1140,
"cds_start": 358,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_015366.4",
"gene_hgnc_id": 31682,
"gene_symbol": "PRR5",
"hgvs_c": "c.358A>G",
"hgvs_p": "p.Met120Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056181.2",
"strand": true,
"transcript": "NM_015366.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 379,
"aa_ref": "M",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1767,
"cdna_start": 552,
"cds_end": null,
"cds_length": 1140,
"cds_start": 358,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000006251.11",
"gene_hgnc_id": 31682,
"gene_symbol": "PRR5",
"hgvs_c": "c.358A>G",
"hgvs_p": "p.Met120Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000006251.7",
"strand": true,
"transcript": "ENST00000006251.11",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 379,
"aa_ref": "M",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1243,
"cdna_start": 461,
"cds_end": null,
"cds_length": 1140,
"cds_start": 358,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000432186.6",
"gene_hgnc_id": 31682,
"gene_symbol": "PRR5",
"hgvs_c": "c.358A>G",
"hgvs_p": "p.Met120Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400925.2",
"strand": true,
"transcript": "ENST00000432186.6",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 293,
"aa_ref": "M",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": 306,
"cds_end": null,
"cds_length": 882,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001017529.3",
"gene_hgnc_id": 31682,
"gene_symbol": "PRR5",
"hgvs_c": "c.100A>G",
"hgvs_p": "p.Met34Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001017529.1",
"strand": true,
"transcript": "NM_001017529.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 293,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1623,
"cdna_start": 407,
"cds_end": null,
"cds_length": 882,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001017530.2",
"gene_hgnc_id": 31682,
"gene_symbol": "PRR5",
"hgvs_c": "c.100A>G",
"hgvs_p": "p.Met34Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001017530.1",
"strand": true,
"transcript": "NM_001017530.2",
"transcript_support_level": null
},
{
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"aa_length": 293,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1293,
"cdna_start": 511,
"cds_end": null,
"cds_length": 882,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000492475.6",
"gene_hgnc_id": 31682,
"gene_symbol": "PRR5",
"hgvs_c": "c.100A>G",
"hgvs_p": "p.Met34Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520433.1",
"strand": true,
"transcript": "ENST00000492475.6",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 293,
"aa_ref": "M",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1726,
"cdna_start": 510,
"cds_end": null,
"cds_length": 882,
"cds_start": 100,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000617066.4",
"gene_hgnc_id": 31682,
"gene_symbol": "PRR5",
"hgvs_c": "c.100A>G",
"hgvs_p": "p.Met34Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479623.1",
"strand": true,
"transcript": "ENST00000617066.4",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 225,
"aa_ref": "M",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 881,
"cdna_start": 560,
"cds_end": null,
"cds_length": 679,
"cds_start": 358,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000457960.5",
"gene_hgnc_id": 31682,
"gene_symbol": "PRR5",
"hgvs_c": "c.358A>G",
"hgvs_p": "p.Met120Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410215.1",
"strand": true,
"transcript": "ENST00000457960.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 176,
"aa_ref": "M",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 789,
"cdna_start": 693,
"cds_end": null,
"cds_length": 532,
"cds_start": 436,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000403696.5",
"gene_hgnc_id": 31682,
"gene_symbol": "PRR5",
"hgvs_c": "c.436A>G",
"hgvs_p": "p.Met146Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384746.1",
"strand": true,
"transcript": "ENST00000403696.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 564,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2155,
"cdna_start": null,
"cds_end": null,
"cds_length": 1695,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_181334.6",
"gene_hgnc_id": 34512,
"gene_symbol": "PRR5-ARHGAP8",
"hgvs_c": "c.322+5158A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_851851.3",
"strand": true,
"transcript": "NM_181334.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 564,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2013,
"cdna_start": null,
"cds_end": null,
"cds_length": 1695,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361473.9",
"gene_hgnc_id": 34512,
"gene_symbol": "PRR5-ARHGAP8",
"hgvs_c": "c.322+5158A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354732.5",
"strand": true,
"transcript": "ENST00000361473.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 503,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1590,
"cdna_start": null,
"cds_end": null,
"cds_length": 1512,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000515632.2",
"gene_hgnc_id": 34512,
"gene_symbol": "PRR5-ARHGAP8",
"hgvs_c": "c.88+5158A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425026.1",
"strand": true,
"transcript": "ENST00000515632.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1612,
"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": "ENST00000431834.5",
"gene_hgnc_id": 31682,
"gene_symbol": "PRR5",
"hgvs_c": "n.*11A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000407637.1",
"strand": true,
"transcript": "ENST00000431834.5",
"transcript_support_level": 5
},
{
"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": 1430,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
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]
}