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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: 19-39173075-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=39173075&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PAK4",
"hgnc_id": 16059,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_005884.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 18,
"alphamissense_prediction": null,
"alphamissense_score": 0.0759,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"chr": "19",
"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": 0.0653904378414154,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 591,
"aa_ref": "P",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2830,
"cdna_start": 591,
"cds_end": null,
"cds_length": 1776,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_005884.5",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360442.8",
"protein_coding": true,
"protein_id": "NP_005875.1",
"strand": true,
"transcript": "NM_005884.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 591,
"aa_ref": "P",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2830,
"cdna_start": 591,
"cds_end": null,
"cds_length": 1776,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000360442.8",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005884.5",
"protein_coding": true,
"protein_id": "ENSP00000353625.3",
"strand": true,
"transcript": "ENST00000360442.8",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 591,
"aa_ref": "P",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2739,
"cdna_start": 502,
"cds_end": null,
"cds_length": 1776,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000358301.7",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351049.2",
"strand": true,
"transcript": "ENST00000358301.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 591,
"aa_ref": "P",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3025,
"cdna_start": 789,
"cds_end": null,
"cds_length": 1776,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000593690.5",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469413.1",
"strand": true,
"transcript": "ENST00000593690.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 501,
"aa_ref": "P",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2555,
"cdna_start": 589,
"cds_end": null,
"cds_length": 1506,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000321944.8",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000326864.4",
"strand": true,
"transcript": "ENST00000321944.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 438,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5735,
"cdna_start": null,
"cds_end": null,
"cds_length": 1317,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000599386.5",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.205-501C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471157.1",
"strand": true,
"transcript": "ENST00000599386.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 438,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": null,
"cds_end": null,
"cds_length": 1317,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000599470.5",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.205-501C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470284.1",
"strand": true,
"transcript": "ENST00000599470.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 634,
"aa_ref": "P",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2956,
"cdna_start": 591,
"cds_end": null,
"cds_length": 1905,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896099.1",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566158.1",
"strand": true,
"transcript": "ENST00000896099.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 618,
"aa_ref": "P",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2929,
"cdna_start": 614,
"cds_end": null,
"cds_length": 1857,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000919869.1",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589928.1",
"strand": true,
"transcript": "ENST00000919869.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 618,
"aa_ref": "P",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 507,
"cds_end": null,
"cds_length": 1857,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000963841.1",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633900.1",
"strand": true,
"transcript": "ENST00000963841.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 617,
"aa_ref": "P",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2896,
"cdna_start": 580,
"cds_end": null,
"cds_length": 1854,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896103.1",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566162.1",
"strand": true,
"transcript": "ENST00000896103.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 608,
"aa_ref": "P",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2879,
"cdna_start": 592,
"cds_end": null,
"cds_length": 1827,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896097.1",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566156.1",
"strand": true,
"transcript": "ENST00000896097.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 591,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6468,
"cdna_start": 817,
"cds_end": null,
"cds_length": 1776,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001014831.3",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001014831.1",
"strand": true,
"transcript": "NM_001014831.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 591,
"aa_ref": "P",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6169,
"cdna_start": 518,
"cds_end": null,
"cds_length": 1776,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001014832.2",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001014832.1",
"strand": true,
"transcript": "NM_001014832.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 591,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": 537,
"cds_end": null,
"cds_length": 1776,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001394501.1",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381430.1",
"strand": true,
"transcript": "NM_001394501.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 591,
"aa_ref": "P",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2900,
"cdna_start": 659,
"cds_end": null,
"cds_length": 1776,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896091.1",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566150.1",
"strand": true,
"transcript": "ENST00000896091.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 591,
"aa_ref": "P",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3068,
"cdna_start": 829,
"cds_end": null,
"cds_length": 1776,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000896092.1",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566151.1",
"strand": true,
"transcript": "ENST00000896092.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3056,
"cdna_start": 819,
"cds_end": null,
"cds_length": 1776,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000896093.1",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566152.1",
"strand": true,
"transcript": "ENST00000896093.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 591,
"aa_ref": "P",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2914,
"cdna_start": 679,
"cds_end": null,
"cds_length": 1776,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000896094.1",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566153.1",
"strand": true,
"transcript": "ENST00000896094.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 591,
"aa_ref": "P",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 547,
"cds_end": null,
"cds_length": 1776,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896098.1",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566157.1",
"strand": true,
"transcript": "ENST00000896098.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 591,
"aa_ref": "P",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3275,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 1776,
"cds_start": 362,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000896100.1",
"gene_hgnc_id": 16059,
"gene_symbol": "PAK4",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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