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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: 6-29944596-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=29944596&ref=T&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": "HLA-A",
"hgnc_id": 4931,
"hgvs_c": "c.992T>G",
"hgvs_p": "p.Met331Arg",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_002116.8",
"verdict": "Likely_benign"
},
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "POLR1HASP",
"hgnc_id": null,
"hgvs_c": "n.66-16050A>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -8,
"transcript": "ENST00000849679.1",
"verdict": "Benign"
},
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC124901298",
"hgnc_id": null,
"hgvs_c": "n.813+185A>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -8,
"transcript": "XR_007059541.1",
"verdict": "Benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 1520,
"alphamissense_prediction": null,
"alphamissense_score": 0.1397,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.004606187343597412,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 365,
"aa_ref": "M",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1535,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1098,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_002116.8",
"gene_hgnc_id": 4931,
"gene_symbol": "HLA-A",
"hgvs_c": "c.992T>G",
"hgvs_p": "p.Met331Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376809.10",
"protein_coding": true,
"protein_id": "NP_002107.3",
"strand": true,
"transcript": "NM_002116.8",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 365,
"aa_ref": "M",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1535,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1098,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000376809.10",
"gene_hgnc_id": 4931,
"gene_symbol": "HLA-A",
"hgvs_c": "c.992T>G",
"hgvs_p": "p.Met331Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002116.8",
"protein_coding": true,
"protein_id": "ENSP00000366005.5",
"strand": true,
"transcript": "ENST00000376809.10",
"transcript_support_level": 6
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 402,
"aa_ref": "M",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1649,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1209,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000952344.1",
"gene_hgnc_id": 4931,
"gene_symbol": "HLA-A",
"hgvs_c": "c.992T>G",
"hgvs_p": "p.Met331Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622403.1",
"strand": true,
"transcript": "ENST00000952344.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 394,
"aa_ref": "M",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1841,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1185,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000706894.1",
"gene_hgnc_id": 4931,
"gene_symbol": "HLA-A",
"hgvs_c": "c.992T>G",
"hgvs_p": "p.Met331Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516610.1",
"strand": true,
"transcript": "ENST00000706894.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 371,
"aa_ref": "M",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": 1301,
"cds_end": null,
"cds_length": 1116,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000376806.9",
"gene_hgnc_id": 4931,
"gene_symbol": "HLA-A",
"hgvs_c": "c.992T>G",
"hgvs_p": "p.Met331Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366002.5",
"strand": true,
"transcript": "ENST00000376806.9",
"transcript_support_level": 6
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 371,
"aa_ref": "M",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1116,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000706898.1",
"gene_hgnc_id": 4931,
"gene_symbol": "HLA-A",
"hgvs_c": "c.992T>G",
"hgvs_p": "p.Met331Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516611.1",
"strand": true,
"transcript": "ENST00000706898.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 371,
"aa_ref": "M",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1617,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 1116,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897456.1",
"gene_hgnc_id": 4931,
"gene_symbol": "HLA-A",
"hgvs_c": "c.992T>G",
"hgvs_p": "p.Met331Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567515.1",
"strand": true,
"transcript": "ENST00000897456.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 366,
"aa_ref": "M",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3260,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1101,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000706904.1",
"gene_hgnc_id": 4931,
"gene_symbol": "HLA-A",
"hgvs_c": "c.992T>G",
"hgvs_p": "p.Met331Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516615.1",
"strand": true,
"transcript": "ENST00000706904.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 365,
"aa_ref": "M",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1868,
"cdna_start": 1333,
"cds_end": null,
"cds_length": 1098,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000396634.5",
"gene_hgnc_id": 4931,
"gene_symbol": "HLA-A",
"hgvs_c": "c.992T>G",
"hgvs_p": "p.Met331Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379873.1",
"strand": true,
"transcript": "ENST00000396634.5",
"transcript_support_level": 6
},
{
"aa_alt": "R",
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"aa_length": 365,
"aa_ref": "M",
"aa_start": 331,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2395,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1098,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000706901.1",
"gene_hgnc_id": 4931,
"gene_symbol": "HLA-A",
"hgvs_c": "c.992T>G",
"hgvs_p": "p.Met331Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516612.1",
"strand": true,
"transcript": "ENST00000706901.1",
"transcript_support_level": null
},
{
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"aa_length": 365,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 1098,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000706905.1",
"gene_hgnc_id": 4931,
"gene_symbol": "HLA-A",
"hgvs_c": "c.992T>G",
"hgvs_p": "p.Met331Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516616.1",
"strand": true,
"transcript": "ENST00000706905.1",
"transcript_support_level": null
},
{
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"aa_length": 361,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1531,
"cdna_start": 984,
"cds_end": null,
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000952342.1",
"gene_hgnc_id": 4931,
"gene_symbol": "HLA-A",
"hgvs_c": "c.962T>G",
"hgvs_p": "p.Met321Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622401.1",
"strand": true,
"transcript": "ENST00000952342.1",
"transcript_support_level": null
},
{
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"aa_length": 355,
"aa_ref": "M",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1508,
"cdna_start": 980,
"cds_end": null,
"cds_length": 1068,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000897457.1",
"gene_hgnc_id": 4931,
"gene_symbol": "HLA-A",
"hgvs_c": "c.962T>G",
"hgvs_p": "p.Met321Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567516.1",
"strand": true,
"transcript": "ENST00000897457.1",
"transcript_support_level": null
},
{
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"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1512,
"cdna_start": 1015,
"cds_end": null,
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"consequences": [
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],
"exon_count": 7,
"exon_rank": 5,
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"feature": "ENST00000934589.1",
"gene_hgnc_id": 4931,
"gene_symbol": "HLA-A",
"hgvs_c": "c.992T>G",
"hgvs_p": "p.Met331Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604648.1",
"strand": true,
"transcript": "ENST00000934589.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 349,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1497,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1050,
"cds_start": 992,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000934588.1",
"gene_hgnc_id": 4931,
"gene_symbol": "HLA-A",
"hgvs_c": "c.992T>G",
"hgvs_p": "p.Met331Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604647.1",
"strand": true,
"transcript": "ENST00000934588.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 337,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1472,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1014,
"cds_start": 908,
"consequences": [
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],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000706900.1",
"gene_hgnc_id": 4931,
"gene_symbol": "HLA-A",
"hgvs_c": "c.908T>G",
"hgvs_p": "p.Met303Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516617.1",
"strand": true,
"transcript": "ENST00000706900.1",
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},
{
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"aa_ref": "M",
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"biotype": "protein_coding",
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"cdna_start": 906,
"cds_end": null,
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000714446.1",
"gene_hgnc_id": 4931,
"gene_symbol": "HLA-A",
"hgvs_c": "c.884T>G",
"hgvs_p": "p.Met295Arg",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000519715.1",
"strand": true,
"transcript": "ENST00000714446.1",
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},
{
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"aa_ref": "M",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1169,
"cdna_start": 745,
"cds_end": null,
"cds_length": 822,
"cds_start": 716,
"consequences": [
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],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000897458.1",
"gene_hgnc_id": 4931,
"gene_symbol": "HLA-A",
"hgvs_c": "c.716T>G",
"hgvs_p": "p.Met239Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567517.1",
"strand": true,
"transcript": "ENST00000897458.1",
"transcript_support_level": null
},
{
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"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2117,
"cdna_start": 745,
"cds_end": null,
"cds_length": 822,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000934587.1",
"gene_hgnc_id": 4931,
"gene_symbol": "HLA-A",
"hgvs_c": "c.716T>G",
"hgvs_p": "p.Met239Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604646.1",
"strand": true,
"transcript": "ENST00000934587.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 183,
"aa_ref": "M",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 996,
"cdna_start": 468,
"cds_end": null,
"cds_length": 552,
"cds_start": 446,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000934590.1",
"gene_hgnc_id": 4931,
"gene_symbol": "HLA-A",
"hgvs_c": "c.446T>G",
"hgvs_p": "p.Met149Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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"transcript": "NM_002116.8"
}
]
}