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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: 17-44075780-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44075780&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "G6PC3",
"hgnc_id": 24861,
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Gly260Ser",
"inheritance_mode": "AR",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_138387.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong",
"acmg_score": 10,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.8449,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.34,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9695691466331482,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 346,
"aa_ref": "G",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1573,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 1041,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_138387.4",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Gly260Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000269097.9",
"protein_coding": true,
"protein_id": "NP_612396.1",
"strand": true,
"transcript": "NM_138387.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 346,
"aa_ref": "G",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1573,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 1041,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000269097.9",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Gly260Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138387.4",
"protein_coding": true,
"protein_id": "ENSP00000269097.3",
"strand": true,
"transcript": "ENST00000269097.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000588558.6",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "n.*753G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000467624.1",
"strand": true,
"transcript": "ENST00000588558.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1772,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000588558.6",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "n.*753G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000467624.1",
"strand": true,
"transcript": "ENST00000588558.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 336,
"aa_ref": "G",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1360,
"cdna_start": 799,
"cds_end": null,
"cds_length": 1011,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000915749.1",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Gly250Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585808.1",
"strand": true,
"transcript": "ENST00000915749.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 316,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1330,
"cdna_start": 766,
"cds_end": null,
"cds_length": 951,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000915747.1",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Gly230Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585806.1",
"strand": true,
"transcript": "ENST00000915747.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 314,
"aa_ref": "G",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1448,
"cdna_start": 885,
"cds_end": null,
"cds_length": 945,
"cds_start": 682,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000892385.1",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Gly228Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562444.1",
"strand": true,
"transcript": "ENST00000892385.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 281,
"aa_ref": "G",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1733,
"cdna_start": 787,
"cds_end": null,
"cds_length": 846,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000696393.1",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Gly260Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512603.1",
"strand": true,
"transcript": "ENST00000696393.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 280,
"aa_ref": "G",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1194,
"cdna_start": 633,
"cds_end": null,
"cds_length": 843,
"cds_start": 580,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915748.1",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "c.580G>A",
"hgvs_p": "p.Gly194Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585807.1",
"strand": true,
"transcript": "ENST00000915748.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 276,
"aa_ref": "G",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1240,
"cdna_start": 677,
"cds_end": null,
"cds_length": 831,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000696390.1",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "c.568G>A",
"hgvs_p": "p.Gly190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512600.1",
"strand": true,
"transcript": "ENST00000696390.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 242,
"aa_ref": "G",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 805,
"cdna_start": 744,
"cds_end": null,
"cds_length": 731,
"cds_start": 670,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000591696.1",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "c.670G>A",
"hgvs_p": "p.Gly224Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468677.1",
"strand": true,
"transcript": "ENST00000591696.1",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 231,
"aa_ref": "G",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1632,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 696,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001384165.1",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Gly145Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371094.1",
"strand": true,
"transcript": "NM_001384165.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 231,
"aa_ref": "G",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1767,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 696,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001384166.1",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Gly145Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371095.1",
"strand": true,
"transcript": "NM_001384166.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 231,
"aa_ref": "G",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1757,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 696,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001384167.1",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Gly145Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371096.1",
"strand": true,
"transcript": "NM_001384167.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 231,
"aa_ref": "G",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1350,
"cdna_start": 786,
"cds_end": null,
"cds_length": 696,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001384168.1",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Gly145Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371097.1",
"strand": true,
"transcript": "NM_001384168.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 231,
"aa_ref": "G",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1378,
"cdna_start": 839,
"cds_end": null,
"cds_length": 696,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000696383.1",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Gly145Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512593.1",
"strand": true,
"transcript": "ENST00000696383.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 231,
"aa_ref": "G",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": 1252,
"cds_end": null,
"cds_length": 696,
"cds_start": 433,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011525474.4",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Gly145Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523776.1",
"strand": true,
"transcript": "XM_011525474.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 195,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1278,
"cdna_start": null,
"cds_end": null,
"cds_length": 588,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001319945.2",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "c.*71G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001306874.1",
"strand": true,
"transcript": "NM_001319945.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 195,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1459,
"cdna_start": null,
"cds_end": null,
"cds_length": 588,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000590253.3",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "c.*71G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465111.2",
"strand": true,
"transcript": "ENST00000590253.3",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 129,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1178,
"cdna_start": null,
"cds_end": null,
"cds_length": 390,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000696386.1",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "c.*71G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512596.1",
"strand": true,
"transcript": "ENST00000696386.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 249,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 805,
"cdna_start": null,
"cds_end": null,
"cds_length": 752,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000696405.1",
"gene_hgnc_id": 24861,
"gene_symbol": "G6PC3",
"hgvs_c": "c.677+329G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512607.1",
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