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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: 6-63576888-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=63576888&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PTP4A1",
"hgnc_id": 9634,
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001385265.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "LOC128125822",
"hgnc_id": 0,
"hgvs_c": "c.*357G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001415059.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "ENSG00000285976",
"hgnc_id": null,
"hgvs_c": "c.*357G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000370651.8",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.7105,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"chr": "6",
"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": 0.3547872304916382,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 173,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4621,
"cdna_start": 693,
"cds_end": null,
"cds_length": 522,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_003463.5",
"gene_hgnc_id": 9634,
"gene_symbol": "PTP4A1",
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000626021.3",
"protein_coding": true,
"protein_id": "NP_003454.1",
"strand": true,
"transcript": "NM_003463.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 173,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4621,
"cdna_start": 693,
"cds_end": null,
"cds_length": 522,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000626021.3",
"gene_hgnc_id": 9634,
"gene_symbol": "PTP4A1",
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003463.5",
"protein_coding": true,
"protein_id": "ENSP00000485687.1",
"strand": true,
"transcript": "ENST00000626021.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 44,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7393,
"cdna_start": null,
"cds_end": null,
"cds_length": 135,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001415059.2",
"gene_hgnc_id": 0,
"gene_symbol": "LOC128125822",
"hgvs_c": "c.*357G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000715520.1",
"protein_coding": true,
"protein_id": "NP_001401988.1",
"strand": true,
"transcript": "NM_001415059.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 44,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7393,
"cdna_start": null,
"cds_end": null,
"cds_length": 135,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000715520.1",
"gene_hgnc_id": 0,
"gene_symbol": "ENSG00000285976",
"hgvs_c": "c.*357G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001415059.2",
"protein_coding": true,
"protein_id": "ENSP00000520460.1",
"strand": true,
"transcript": "ENST00000715520.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 44,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4621,
"cdna_start": null,
"cds_end": null,
"cds_length": 135,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000370651.8",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285976",
"hgvs_c": "c.*357G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359685.4",
"strand": true,
"transcript": "ENST00000370651.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 184,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4617,
"cdna_start": 693,
"cds_end": null,
"cds_length": 555,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001385265.1",
"gene_hgnc_id": 9634,
"gene_symbol": "PTP4A1",
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372194.1",
"strand": true,
"transcript": "NM_001385265.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 173,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4732,
"cdna_start": 804,
"cds_end": null,
"cds_length": 522,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001385254.1",
"gene_hgnc_id": 9634,
"gene_symbol": "PTP4A1",
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372183.1",
"strand": true,
"transcript": "NM_001385254.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 173,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5055,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 522,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385255.1",
"gene_hgnc_id": 9634,
"gene_symbol": "PTP4A1",
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372184.1",
"strand": true,
"transcript": "NM_001385255.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 173,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4922,
"cdna_start": 994,
"cds_end": null,
"cds_length": 522,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001385256.1",
"gene_hgnc_id": 9634,
"gene_symbol": "PTP4A1",
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372185.1",
"strand": true,
"transcript": "NM_001385256.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 173,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5116,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 522,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385257.1",
"gene_hgnc_id": 9634,
"gene_symbol": "PTP4A1",
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372186.1",
"strand": true,
"transcript": "NM_001385257.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 173,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5257,
"cdna_start": 1329,
"cds_end": null,
"cds_length": 522,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001385258.1",
"gene_hgnc_id": 9634,
"gene_symbol": "PTP4A1",
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372187.1",
"strand": true,
"transcript": "NM_001385258.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 173,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4435,
"cdna_start": 507,
"cds_end": null,
"cds_length": 522,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001385259.1",
"gene_hgnc_id": 9634,
"gene_symbol": "PTP4A1",
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372188.1",
"strand": true,
"transcript": "NM_001385259.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 173,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4425,
"cdna_start": 497,
"cds_end": null,
"cds_length": 522,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001385260.1",
"gene_hgnc_id": 9634,
"gene_symbol": "PTP4A1",
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372189.1",
"strand": true,
"transcript": "NM_001385260.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 173,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4607,
"cdna_start": 679,
"cds_end": null,
"cds_length": 522,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001385262.2",
"gene_hgnc_id": 9634,
"gene_symbol": "PTP4A1",
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372191.1",
"strand": true,
"transcript": "NM_001385262.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 173,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4719,
"cdna_start": 791,
"cds_end": null,
"cds_length": 522,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001385267.2",
"gene_hgnc_id": 9634,
"gene_symbol": "PTP4A1",
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372196.1",
"strand": true,
"transcript": "NM_001385267.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 173,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4711,
"cdna_start": 994,
"cds_end": null,
"cds_length": 522,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000648894.1",
"gene_hgnc_id": 9634,
"gene_symbol": "PTP4A1",
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497588.1",
"strand": true,
"transcript": "ENST00000648894.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 173,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2500,
"cdna_start": 588,
"cds_end": null,
"cds_length": 522,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000672924.1",
"gene_hgnc_id": 9634,
"gene_symbol": "PTP4A1",
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500952.1",
"strand": true,
"transcript": "ENST00000672924.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 173,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4276,
"cdna_start": 500,
"cds_end": null,
"cds_length": 522,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000673199.1",
"gene_hgnc_id": 9634,
"gene_symbol": "PTP4A1",
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500859.1",
"strand": true,
"transcript": "ENST00000673199.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 160,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4582,
"cdna_start": 693,
"cds_end": null,
"cds_length": 483,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001385268.2",
"gene_hgnc_id": 9634,
"gene_symbol": "PTP4A1",
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372197.1",
"strand": true,
"transcript": "NM_001385268.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 155,
"aa_ref": "R",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4664,
"cdna_start": 693,
"cds_end": null,
"cds_length": 468,
"cds_start": 8,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001385266.1",
"gene_hgnc_id": 9634,
"gene_symbol": "PTP4A1",
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372195.1",
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