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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: 22-42693200-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42693200&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "A4GALT",
"hgnc_id": 18149,
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_017436.7",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CYB5R3",
"hgnc_id": 2873,
"hgvs_c": "c.-49+27597C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000686129.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_score": 4,
"allele_count_reference_population": 75,
"alphamissense_prediction": null,
"alphamissense_score": 0.9621,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.44,
"chr": "22",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided,p phenotype",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.964231014251709,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 353,
"aa_ref": "P",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 1062,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_017436.7",
"gene_hgnc_id": 18149,
"gene_symbol": "A4GALT",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000642412.2",
"protein_coding": true,
"protein_id": "NP_059132.1",
"strand": false,
"transcript": "NM_017436.7",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 353,
"aa_ref": "P",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 1062,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000642412.2",
"gene_hgnc_id": 18149,
"gene_symbol": "A4GALT",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017436.7",
"protein_coding": true,
"protein_id": "ENSP00000494127.1",
"strand": false,
"transcript": "ENST00000642412.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 353,
"aa_ref": "P",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": 941,
"cds_end": null,
"cds_length": 1062,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000249005.3",
"gene_hgnc_id": 18149,
"gene_symbol": "A4GALT",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000249005.2",
"strand": false,
"transcript": "ENST00000249005.3",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 353,
"aa_ref": "P",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": 1242,
"cds_end": null,
"cds_length": 1062,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000401850.5",
"gene_hgnc_id": 18149,
"gene_symbol": "A4GALT",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384794.1",
"strand": false,
"transcript": "ENST00000401850.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 353,
"aa_ref": "P",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2155,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 1062,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001318038.3",
"gene_hgnc_id": 18149,
"gene_symbol": "A4GALT",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304967.1",
"strand": false,
"transcript": "NM_001318038.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 353,
"aa_ref": "P",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1956,
"cdna_start": 878,
"cds_end": null,
"cds_length": 1062,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000381278.4",
"gene_hgnc_id": 18149,
"gene_symbol": "A4GALT",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370678.3",
"strand": false,
"transcript": "ENST00000381278.4",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 353,
"aa_ref": "P",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2156,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 1062,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000868257.1",
"gene_hgnc_id": 18149,
"gene_symbol": "A4GALT",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538316.1",
"strand": false,
"transcript": "ENST00000868257.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 353,
"aa_ref": "P",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 973,
"cds_end": null,
"cds_length": 1062,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000868258.1",
"gene_hgnc_id": 18149,
"gene_symbol": "A4GALT",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538317.1",
"strand": false,
"transcript": "ENST00000868258.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 353,
"aa_ref": "P",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 1062,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000868259.1",
"gene_hgnc_id": 18149,
"gene_symbol": "A4GALT",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538318.1",
"strand": false,
"transcript": "ENST00000868259.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 353,
"aa_ref": "P",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2508,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 1062,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868260.1",
"gene_hgnc_id": 18149,
"gene_symbol": "A4GALT",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538319.1",
"strand": false,
"transcript": "ENST00000868260.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 353,
"aa_ref": "P",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": 876,
"cds_end": null,
"cds_length": 1062,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000868261.1",
"gene_hgnc_id": 18149,
"gene_symbol": "A4GALT",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538320.1",
"strand": false,
"transcript": "ENST00000868261.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 353,
"aa_ref": "P",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2201,
"cdna_start": 1122,
"cds_end": null,
"cds_length": 1062,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868262.1",
"gene_hgnc_id": 18149,
"gene_symbol": "A4GALT",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538321.1",
"strand": false,
"transcript": "ENST00000868262.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 353,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1062,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000868263.1",
"gene_hgnc_id": 18149,
"gene_symbol": "A4GALT",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538322.1",
"strand": false,
"transcript": "ENST00000868263.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 353,
"aa_ref": "P",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2470,
"cdna_start": 1391,
"cds_end": null,
"cds_length": 1062,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000868264.1",
"gene_hgnc_id": 18149,
"gene_symbol": "A4GALT",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538323.1",
"strand": false,
"transcript": "ENST00000868264.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 353,
"aa_ref": "P",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": 1104,
"cds_end": null,
"cds_length": 1062,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868265.1",
"gene_hgnc_id": 18149,
"gene_symbol": "A4GALT",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538324.1",
"strand": false,
"transcript": "ENST00000868265.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 353,
"aa_ref": "P",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2220,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1062,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868266.1",
"gene_hgnc_id": 18149,
"gene_symbol": "A4GALT",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538325.1",
"strand": false,
"transcript": "ENST00000868266.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 353,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2352,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1062,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000868267.1",
"gene_hgnc_id": 18149,
"gene_symbol": "A4GALT",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538326.1",
"strand": false,
"transcript": "ENST00000868267.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 353,
"aa_ref": "P",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3689,
"cdna_start": 2611,
"cds_end": null,
"cds_length": 1062,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000868268.1",
"gene_hgnc_id": 18149,
"gene_symbol": "A4GALT",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538327.1",
"strand": false,
"transcript": "ENST00000868268.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2118,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 1062,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000868269.1",
"gene_hgnc_id": 18149,
"gene_symbol": "A4GALT",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538328.1",
"strand": false,
"transcript": "ENST00000868269.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 353,
"aa_ref": "P",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2290,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 1062,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000868270.1",
"gene_hgnc_id": 18149,
"gene_symbol": "A4GALT",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Pro251Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538329.1",
"strand": false,
"transcript": "ENST00000868270.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 353,
"aa_ref": "P",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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