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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: 3-195294748-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=195294748&ref=G&alt=C&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": "ACAP2",
"hgnc_id": 16469,
"hgvs_c": "c.1736C>G",
"hgvs_p": "p.Thr579Arg",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_012287.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000295476",
"hgnc_id": null,
"hgvs_c": "n.126+23272G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000730353.1",
"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": 0.109,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.23976361751556396,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 778,
"aa_ref": "T",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7093,
"cdna_start": 1909,
"cds_end": null,
"cds_length": 2337,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_012287.6",
"gene_hgnc_id": 16469,
"gene_symbol": "ACAP2",
"hgvs_c": "c.1736C>G",
"hgvs_p": "p.Thr579Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000326793.11",
"protein_coding": true,
"protein_id": "NP_036419.3",
"strand": false,
"transcript": "NM_012287.6",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 778,
"aa_ref": "T",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7093,
"cdna_start": 1909,
"cds_end": null,
"cds_length": 2337,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000326793.11",
"gene_hgnc_id": 16469,
"gene_symbol": "ACAP2",
"hgvs_c": "c.1736C>G",
"hgvs_p": "p.Thr579Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012287.6",
"protein_coding": true,
"protein_id": "ENSP00000324287.6",
"strand": false,
"transcript": "ENST00000326793.11",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 841,
"aa_ref": "T",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3202,
"cdna_start": 2065,
"cds_end": null,
"cds_length": 2526,
"cds_start": 1925,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000867120.1",
"gene_hgnc_id": 16469,
"gene_symbol": "ACAP2",
"hgvs_c": "c.1925C>G",
"hgvs_p": "p.Thr642Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537179.1",
"strand": false,
"transcript": "ENST00000867120.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 813,
"aa_ref": "T",
"aa_start": 614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4785,
"cdna_start": 2085,
"cds_end": null,
"cds_length": 2442,
"cds_start": 1841,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000867114.1",
"gene_hgnc_id": 16469,
"gene_symbol": "ACAP2",
"hgvs_c": "c.1841C>G",
"hgvs_p": "p.Thr614Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537173.1",
"strand": false,
"transcript": "ENST00000867114.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 808,
"aa_ref": "T",
"aa_start": 614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2987,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 2427,
"cds_start": 1841,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000450200.2",
"gene_hgnc_id": 16469,
"gene_symbol": "ACAP2",
"hgvs_c": "c.1841C>G",
"hgvs_p": "p.Thr614Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412338.2",
"strand": false,
"transcript": "ENST00000450200.2",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 806,
"aa_ref": "T",
"aa_start": 607,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7254,
"cdna_start": 2064,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1820,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000867112.1",
"gene_hgnc_id": 16469,
"gene_symbol": "ACAP2",
"hgvs_c": "c.1820C>G",
"hgvs_p": "p.Thr607Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537171.1",
"strand": false,
"transcript": "ENST00000867112.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 783,
"aa_ref": "T",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3395,
"cdna_start": 1981,
"cds_end": null,
"cds_length": 2352,
"cds_start": 1751,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000957235.1",
"gene_hgnc_id": 16469,
"gene_symbol": "ACAP2",
"hgvs_c": "c.1751C>G",
"hgvs_p": "p.Thr584Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627294.1",
"strand": false,
"transcript": "ENST00000957235.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 777,
"aa_ref": "T",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3478,
"cdna_start": 1931,
"cds_end": null,
"cds_length": 2334,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000867115.1",
"gene_hgnc_id": 16469,
"gene_symbol": "ACAP2",
"hgvs_c": "c.1736C>G",
"hgvs_p": "p.Thr579Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537174.1",
"strand": false,
"transcript": "ENST00000867115.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 777,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3305,
"cdna_start": 1890,
"cds_end": null,
"cds_length": 2334,
"cds_start": 1733,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000867116.1",
"gene_hgnc_id": 16469,
"gene_symbol": "ACAP2",
"hgvs_c": "c.1733C>G",
"hgvs_p": "p.Thr578Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537175.1",
"strand": false,
"transcript": "ENST00000867116.1",
"transcript_support_level": null
},
{
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"aa_length": 777,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3685,
"cdna_start": 1961,
"cds_end": null,
"cds_length": 2334,
"cds_start": 1733,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000957234.1",
"gene_hgnc_id": 16469,
"gene_symbol": "ACAP2",
"hgvs_c": "c.1733C>G",
"hgvs_p": "p.Thr578Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627293.1",
"strand": false,
"transcript": "ENST00000957234.1",
"transcript_support_level": null
},
{
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3243,
"cdna_start": 1875,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1712,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 18,
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"feature": "ENST00000867117.1",
"gene_hgnc_id": 16469,
"gene_symbol": "ACAP2",
"hgvs_c": "c.1712C>G",
"hgvs_p": "p.Thr571Arg",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537176.1",
"strand": false,
"transcript": "ENST00000867117.1",
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},
{
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"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_start": 1910,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000912823.1",
"gene_hgnc_id": 16469,
"gene_symbol": "ACAP2",
"hgvs_c": "c.1700C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000582882.1",
"strand": false,
"transcript": "ENST00000912823.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 1887,
"cds_end": null,
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"cds_start": 1691,
"consequences": [
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],
"exon_count": 22,
"exon_rank": 17,
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"feature": "ENST00000912824.1",
"gene_hgnc_id": 16469,
"gene_symbol": "ACAP2",
"hgvs_c": "c.1691C>G",
"hgvs_p": "p.Thr564Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000582883.1",
"strand": false,
"transcript": "ENST00000912824.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 1845,
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"consequences": [
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],
"exon_count": 22,
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"feature": "ENST00000867113.1",
"gene_hgnc_id": 16469,
"gene_symbol": "ACAP2",
"hgvs_c": "c.1682C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000537172.1",
"strand": false,
"transcript": "ENST00000867113.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": 1661,
"consequences": [
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],
"exon_count": 23,
"exon_rank": 18,
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"feature": "ENST00000957238.1",
"gene_hgnc_id": 16469,
"gene_symbol": "ACAP2",
"hgvs_c": "c.1661C>G",
"hgvs_p": "p.Thr554Arg",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000627297.1",
"strand": false,
"transcript": "ENST00000957238.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 1782,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1640,
"consequences": [
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],
"exon_count": 22,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000867119.1",
"gene_hgnc_id": 16469,
"gene_symbol": "ACAP2",
"hgvs_c": "c.1640C>G",
"hgvs_p": "p.Thr547Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000537178.1",
"strand": false,
"transcript": "ENST00000867119.1",
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},
{
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],
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"feature": "ENST00000867118.1",
"gene_hgnc_id": 16469,
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},
{
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"consequences": [
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],
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"feature": "ENST00000957236.1",
"gene_hgnc_id": 16469,
"gene_symbol": "ACAP2",
"hgvs_c": "c.1520C>G",
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"mane_plus": null,
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"protein_coding": true,
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"strand": false,
"transcript": "ENST00000957236.1",
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},
{
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"consequences": [
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],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000957237.1",
"gene_hgnc_id": 16469,
"gene_symbol": "ACAP2",
"hgvs_c": "c.1457C>G",
"hgvs_p": "p.Thr486Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627296.1",
"strand": false,
"transcript": "ENST00000957237.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 62,
"cds_end": null,
"cds_length": 648,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000466876.2",
"gene_hgnc_id": 16469,
"gene_symbol": "ACAP2",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Thr21Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500381.1",
"strand": false,
"transcript": "ENST00000466876.2",
"transcript_support_level": 3
},
{
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"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_end": null,
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