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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: 10-13278307-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=13278307&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PHYH",
"hgnc_id": 8940,
"hgvs_c": "c.1017T>A",
"hgvs_p": "p.Asn339Lys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001323082.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 17,
"alphamissense_prediction": null,
"alphamissense_score": 0.4057,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3766496181488037,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 338,
"aa_ref": "N",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1541,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 1017,
"cds_start": 1011,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_006214.4",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.1011T>A",
"hgvs_p": "p.Asn337Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263038.9",
"protein_coding": true,
"protein_id": "NP_006205.1",
"strand": false,
"transcript": "NM_006214.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 338,
"aa_ref": "N",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1541,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 1017,
"cds_start": 1011,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000263038.9",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.1011T>A",
"hgvs_p": "p.Asn337Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006214.4",
"protein_coding": true,
"protein_id": "ENSP00000263038.4",
"strand": false,
"transcript": "ENST00000263038.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 340,
"aa_ref": "N",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1547,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 1023,
"cds_start": 1017,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001323082.2",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.1017T>A",
"hgvs_p": "p.Asn339Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310011.1",
"strand": false,
"transcript": "NM_001323082.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 327,
"aa_ref": "N",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1509,
"cdna_start": 1000,
"cds_end": null,
"cds_length": 984,
"cds_start": 978,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000858006.1",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.978T>A",
"hgvs_p": "p.Asn326Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528065.1",
"strand": false,
"transcript": "ENST00000858006.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 326,
"aa_ref": "N",
"aa_start": 325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1262,
"cdna_start": 994,
"cds_end": null,
"cds_length": 981,
"cds_start": 975,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000943581.1",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.975T>A",
"hgvs_p": "p.Asn325Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613640.1",
"strand": false,
"transcript": "ENST00000943581.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 321,
"aa_ref": "N",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1829,
"cdna_start": 1365,
"cds_end": null,
"cds_length": 966,
"cds_start": 960,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000396920.7",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.960T>A",
"hgvs_p": "p.Asn320Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380126.3",
"strand": false,
"transcript": "ENST00000396920.7",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 309,
"aa_ref": "N",
"aa_start": 308,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1453,
"cdna_start": 946,
"cds_end": null,
"cds_length": 930,
"cds_start": 924,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000858009.1",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.924T>A",
"hgvs_p": "p.Asn308Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528068.1",
"strand": false,
"transcript": "ENST00000858009.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 308,
"aa_ref": "N",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1211,
"cdna_start": 943,
"cds_end": null,
"cds_length": 927,
"cds_start": 921,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000858014.1",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.921T>A",
"hgvs_p": "p.Asn307Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528073.1",
"strand": false,
"transcript": "ENST00000858014.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 306,
"aa_ref": "N",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1444,
"cdna_start": 937,
"cds_end": null,
"cds_length": 921,
"cds_start": 915,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000858011.1",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.915T>A",
"hgvs_p": "p.Asn305Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528070.1",
"strand": false,
"transcript": "ENST00000858011.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 293,
"aa_ref": "N",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1449,
"cdna_start": 941,
"cds_end": null,
"cds_length": 882,
"cds_start": 876,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000858005.1",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.876T>A",
"hgvs_p": "p.Asn292Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528064.1",
"strand": false,
"transcript": "ENST00000858005.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 293,
"aa_ref": "N",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1405,
"cdna_start": 898,
"cds_end": null,
"cds_length": 882,
"cds_start": 876,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000858007.1",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.876T>A",
"hgvs_p": "p.Asn292Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528066.1",
"strand": false,
"transcript": "ENST00000858007.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 292,
"aa_ref": "N",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1397,
"cdna_start": 892,
"cds_end": null,
"cds_length": 879,
"cds_start": 873,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000943580.1",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.873T>A",
"hgvs_p": "p.Asn291Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613639.1",
"strand": false,
"transcript": "ENST00000943580.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 288,
"aa_ref": "N",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1390,
"cdna_start": 883,
"cds_end": null,
"cds_length": 867,
"cds_start": 861,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000858010.1",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.861T>A",
"hgvs_p": "p.Asn287Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528069.1",
"strand": false,
"transcript": "ENST00000858010.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 250,
"aa_ref": "N",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1277,
"cdna_start": 769,
"cds_end": null,
"cds_length": 753,
"cds_start": 747,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001323083.2",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.747T>A",
"hgvs_p": "p.Asn249Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310012.1",
"strand": false,
"transcript": "NM_001323083.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 240,
"aa_ref": "N",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1735,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 723,
"cds_start": 717,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001323084.2",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.717T>A",
"hgvs_p": "p.Asn239Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310013.1",
"strand": false,
"transcript": "NM_001323084.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 239,
"aa_ref": "N",
"aa_start": 238,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1005,
"cdna_start": 735,
"cds_end": null,
"cds_length": 720,
"cds_start": 714,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000928060.1",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.714T>A",
"hgvs_p": "p.Asn238Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598119.1",
"strand": false,
"transcript": "ENST00000928060.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 238,
"aa_ref": "N",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1729,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 717,
"cds_start": 711,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001037537.2",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.711T>A",
"hgvs_p": "p.Asn237Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001032626.1",
"strand": false,
"transcript": "NM_001037537.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 238,
"aa_ref": "N",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1788,
"cdna_start": 1280,
"cds_end": null,
"cds_length": 717,
"cds_start": 711,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001323080.2",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.711T>A",
"hgvs_p": "p.Asn237Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001310009.1",
"strand": false,
"transcript": "NM_001323080.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 238,
"aa_ref": "N",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1732,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 717,
"cds_start": 711,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000396913.6",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.711T>A",
"hgvs_p": "p.Asn237Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380121.2",
"strand": false,
"transcript": "ENST00000396913.6",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 236,
"aa_ref": "N",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 919,
"cdna_start": 734,
"cds_end": null,
"cds_length": 711,
"cds_start": 705,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000858015.1",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.705T>A",
"hgvs_p": "p.Asn235Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528074.1",
"strand": false,
"transcript": "ENST00000858015.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 205,
"aa_ref": "N",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1141,
"cdna_start": 634,
"cds_end": null,
"cds_length": 618,
"cds_start": 612,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000858008.1",
"gene_hgnc_id": 8940,
"gene_symbol": "PHYH",
"hgvs_c": "c.612T>A",
"hgvs_p": "p.Asn204Lys",
"intron_rank": null,
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}