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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: 7-4789856-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=4789856&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AP5Z1",
"hgnc_id": 22197,
"hgvs_c": "c.1732C>G",
"hgvs_p": "p.Gln578Glu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_014855.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0934,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2746187746524811,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 807,
"aa_ref": "Q",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5529,
"cdna_start": 1825,
"cds_end": null,
"cds_length": 2424,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_014855.3",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.1732C>G",
"hgvs_p": "p.Gln578Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000649063.2",
"protein_coding": true,
"protein_id": "NP_055670.1",
"strand": true,
"transcript": "NM_014855.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 807,
"aa_ref": "Q",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5529,
"cdna_start": 1825,
"cds_end": null,
"cds_length": 2424,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000649063.2",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.1732C>G",
"hgvs_p": "p.Gln578Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014855.3",
"protein_coding": true,
"protein_id": "ENSP00000497815.1",
"strand": true,
"transcript": "ENST00000649063.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 832,
"aa_ref": "Q",
"aa_start": 603,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2956,
"cdna_start": 1889,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1807,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000865634.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.1807C>G",
"hgvs_p": "p.Gln603Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535693.1",
"strand": true,
"transcript": "ENST00000865634.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 830,
"aa_ref": "Q",
"aa_start": 601,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2939,
"cdna_start": 1883,
"cds_end": null,
"cds_length": 2493,
"cds_start": 1801,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000865636.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.1801C>G",
"hgvs_p": "p.Gln601Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535695.1",
"strand": true,
"transcript": "ENST00000865636.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 816,
"aa_ref": "Q",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2919,
"cdna_start": 1852,
"cds_end": null,
"cds_length": 2451,
"cds_start": 1759,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000963389.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.1759C>G",
"hgvs_p": "p.Gln587Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633448.1",
"strand": true,
"transcript": "ENST00000963389.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 814,
"aa_ref": "Q",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2910,
"cdna_start": 1843,
"cds_end": null,
"cds_length": 2445,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000963390.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.1753C>G",
"hgvs_p": "p.Gln585Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633449.1",
"strand": true,
"transcript": "ENST00000963390.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 813,
"aa_ref": "Q",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2878,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 2442,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000963393.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.1732C>G",
"hgvs_p": "p.Gln578Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633452.1",
"strand": true,
"transcript": "ENST00000963393.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 806,
"aa_ref": "Q",
"aa_start": 577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2805,
"cdna_start": 1753,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1729,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000963396.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.1729C>G",
"hgvs_p": "p.Gln577Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633455.1",
"strand": true,
"transcript": "ENST00000963396.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 792,
"aa_ref": "Q",
"aa_start": 563,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2835,
"cdna_start": 1776,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1687,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000913390.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.1687C>G",
"hgvs_p": "p.Gln563Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583449.1",
"strand": true,
"transcript": "ENST00000913390.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 791,
"aa_ref": "Q",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2828,
"cdna_start": 1771,
"cds_end": null,
"cds_length": 2376,
"cds_start": 1684,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000963391.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.1684C>G",
"hgvs_p": "p.Gln562Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633450.1",
"strand": true,
"transcript": "ENST00000963391.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 760,
"aa_ref": "Q",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2732,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 2283,
"cds_start": 1591,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000865635.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.1591C>G",
"hgvs_p": "p.Gln531Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535694.1",
"strand": true,
"transcript": "ENST00000865635.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 722,
"aa_ref": "Q",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2616,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 2169,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000963392.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.1477C>G",
"hgvs_p": "p.Gln493Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633451.1",
"strand": true,
"transcript": "ENST00000963392.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 691,
"aa_ref": "Q",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2521,
"cdna_start": 1810,
"cds_end": null,
"cds_length": 2076,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000865637.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.1732C>G",
"hgvs_p": "p.Gln578Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535696.1",
"strand": true,
"transcript": "ENST00000865637.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 651,
"aa_ref": "Q",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5342,
"cdna_start": 1638,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1264,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001364858.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.1264C>G",
"hgvs_p": "p.Gln422Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351787.1",
"strand": true,
"transcript": "NM_001364858.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 492,
"aa_ref": "Q",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1915,
"cdna_start": 856,
"cds_end": null,
"cds_length": 1479,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000963394.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.787C>G",
"hgvs_p": "p.Gln263Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633453.1",
"strand": true,
"transcript": "ENST00000963394.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 317,
"aa_ref": "Q",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1299,
"cdna_start": 534,
"cds_end": null,
"cds_length": 954,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000650581.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.532C>G",
"hgvs_p": "p.Gln178Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497156.1",
"strand": true,
"transcript": "ENST00000650581.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 144,
"aa_ref": "Q",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 917,
"cdna_start": 20,
"cds_end": null,
"cds_length": 435,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000648237.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.19C>G",
"hgvs_p": "p.Gln7Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497377.1",
"strand": true,
"transcript": "ENST00000648237.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 695,
"aa_ref": "Q",
"aa_start": 466,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5234,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1396,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047421098.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.1396C>G",
"hgvs_p": "p.Gln466Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277054.1",
"strand": true,
"transcript": "XM_047421098.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 821,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2901,
"cdna_start": null,
"cds_end": null,
"cds_length": 2466,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963395.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "c.1777-3C>G",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633454.1",
"strand": true,
"transcript": "ENST00000963395.1",
"transcript_support_level": null
},
{
"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": 2337,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000469614.1",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
"hgvs_c": "n.751C>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": "ENST00000469614.1",
"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": 3078,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000477680.6",
"gene_hgnc_id": 22197,
"gene_symbol": "AP5Z1",
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