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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: 2-232794835-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=232794835&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GIGYF2",
"hgnc_id": 11960,
"hgvs_c": "c.1433A>G",
"hgvs_p": "p.Asn478Ser",
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001103147.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.0591,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.016786515712738037,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7816,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 3900,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001103146.3",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373563.9",
"protein_coding": true,
"protein_id": "NP_001096616.1",
"strand": true,
"transcript": "NM_001103146.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7816,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 3900,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000373563.9",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001103146.3",
"protein_coding": true,
"protein_id": "ENSP00000362664.5",
"strand": true,
"transcript": "ENST00000373563.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "N",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5937,
"cdna_start": 1659,
"cds_end": null,
"cds_length": 3963,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000409451.7",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.1433A>G",
"hgvs_p": "p.Asn478Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387170.3",
"strand": true,
"transcript": "ENST00000409451.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5978,
"cdna_start": 1681,
"cds_end": null,
"cds_length": 3900,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000409547.5",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386537.1",
"strand": true,
"transcript": "ENST00000409547.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1293,
"aa_ref": "N",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5747,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 3882,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000409196.7",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.1352A>G",
"hgvs_p": "p.Asn451Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387070.3",
"strand": true,
"transcript": "ENST00000409196.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 835,
"aa_ref": "N",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2658,
"cdna_start": 1502,
"cds_end": null,
"cds_length": 2508,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000440945.5",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.1352A>G",
"hgvs_p": "p.Asn451Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410297.1",
"strand": true,
"transcript": "ENST00000440945.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1321,
"aa_ref": "N",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5976,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 3966,
"cds_start": 1436,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000409480.5",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.1436A>G",
"hgvs_p": "p.Asn479Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386765.1",
"strand": true,
"transcript": "ENST00000409480.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1321,
"aa_ref": "N",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7878,
"cdna_start": 1633,
"cds_end": null,
"cds_length": 3966,
"cds_start": 1436,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000629305.2",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.1436A>G",
"hgvs_p": "p.Asn479Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487548.1",
"strand": true,
"transcript": "ENST00000629305.2",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1320,
"aa_ref": "N",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7921,
"cdna_start": 1674,
"cds_end": null,
"cds_length": 3963,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001103147.2",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.1433A>G",
"hgvs_p": "p.Asn478Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001096617.1",
"strand": true,
"transcript": "NM_001103147.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7928,
"cdna_start": 1681,
"cds_end": null,
"cds_length": 3900,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_015575.4",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056390.2",
"strand": true,
"transcript": "NM_015575.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6429,
"cdna_start": 1547,
"cds_end": null,
"cds_length": 3900,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000869690.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539749.1",
"strand": true,
"transcript": "ENST00000869690.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6412,
"cdna_start": 1760,
"cds_end": null,
"cds_length": 3900,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000869691.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539750.1",
"strand": true,
"transcript": "ENST00000869691.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5919,
"cdna_start": 1637,
"cds_end": null,
"cds_length": 3900,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000869692.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539751.1",
"strand": true,
"transcript": "ENST00000869692.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5910,
"cdna_start": 1653,
"cds_end": null,
"cds_length": 3900,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000869693.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539752.1",
"strand": true,
"transcript": "ENST00000869693.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5275,
"cdna_start": 1773,
"cds_end": null,
"cds_length": 3900,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000869695.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539754.1",
"strand": true,
"transcript": "ENST00000869695.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5355,
"cdna_start": 1842,
"cds_end": null,
"cds_length": 3900,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000869696.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539755.1",
"strand": true,
"transcript": "ENST00000869696.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5097,
"cdna_start": 1758,
"cds_end": null,
"cds_length": 3900,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000869697.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539756.1",
"strand": true,
"transcript": "ENST00000869697.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1299,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5966,
"cdna_start": 1669,
"cds_end": null,
"cds_length": 3900,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000933239.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603298.1",
"strand": true,
"transcript": "ENST00000933239.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6027,
"cdna_start": 1730,
"cds_end": null,
"cds_length": 3900,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000933241.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603300.1",
"strand": true,
"transcript": "ENST00000933241.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6068,
"cdna_start": 1773,
"cds_end": null,
"cds_length": 3900,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000933242.1",
"gene_hgnc_id": 11960,
"gene_symbol": "GIGYF2",
"hgvs_c": "c.1370A>G",
"hgvs_p": "p.Asn457Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603301.1",
"strand": true,
"transcript": "ENST00000933242.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1299,
"aa_ref": "N",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6273,
"cdna_start": 1976,
"cds_end": null,
"cds_length": 3900,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 18,
"exon_rank_end": null,
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