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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: 2-151492258-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151492258&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4_Strong",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NEB",
"hgnc_id": 7720,
"hgvs_c": "c.25002G>C",
"hgvs_p": "p.Glu8334Asp",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_001271208.2",
"verdict": "Likely_benign"
},
{
"benign_score": 5,
"criteria": [
"BP4_Strong",
"BP6"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RIF1",
"hgnc_id": 23207,
"hgvs_c": "n.481-2971C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -5,
"transcript": "ENST00000457745.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_score": -5,
"allele_count_reference_population": 94,
"alphamissense_prediction": null,
"alphamissense_score": 0.4329,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.11,
"chr": "2",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Inborn genetic diseases,Nemaline myopathy 2,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.056567639112472534,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 8525,
"aa_ref": "E",
"aa_start": 8299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26191,
"cdna_start": 25089,
"cds_end": null,
"cds_length": 25578,
"cds_start": 24897,
"consequences": [
"missense_variant"
],
"exon_count": 182,
"exon_rank": 178,
"exon_rank_end": null,
"feature": "NM_001164507.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24897G>C",
"hgvs_p": "p.Glu8299Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000427231.7",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157979.2",
"strand": false,
"transcript": "NM_001164507.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 8525,
"aa_ref": "E",
"aa_start": 8299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26191,
"cdna_start": 25089,
"cds_end": null,
"cds_length": 25578,
"cds_start": 24897,
"consequences": [
"missense_variant"
],
"exon_count": 182,
"exon_rank": 178,
"exon_rank_end": null,
"feature": "NM_001164508.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24897G>C",
"hgvs_p": "p.Glu8299Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397345.8",
"protein_coding": true,
"protein_id": "NP_001157980.2",
"strand": false,
"transcript": "NM_001164508.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 8525,
"aa_ref": "E",
"aa_start": 8299,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 26191,
"cdna_start": 25089,
"cds_end": null,
"cds_length": 25578,
"cds_start": 24897,
"consequences": [
"missense_variant"
],
"exon_count": 182,
"exon_rank": 178,
"exon_rank_end": null,
"feature": "ENST00000397345.8",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24897G>C",
"hgvs_p": "p.Glu8299Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001164508.2",
"protein_coding": true,
"protein_id": "ENSP00000380505.3",
"strand": false,
"transcript": "ENST00000397345.8",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 8525,
"aa_ref": "E",
"aa_start": 8299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26191,
"cdna_start": 25089,
"cds_end": null,
"cds_length": 25578,
"cds_start": 24897,
"consequences": [
"missense_variant"
],
"exon_count": 182,
"exon_rank": 178,
"exon_rank_end": null,
"feature": "ENST00000427231.7",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24897G>C",
"hgvs_p": "p.Glu8299Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001164507.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416578.2",
"strand": false,
"transcript": "ENST00000427231.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1006,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000457745.1",
"gene_hgnc_id": 23207,
"gene_symbol": "RIF1",
"hgvs_c": "n.481-2971C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000457745.1",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 8560,
"aa_ref": "E",
"aa_start": 8334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26296,
"cdna_start": 25194,
"cds_end": null,
"cds_length": 25683,
"cds_start": 25002,
"consequences": [
"missense_variant"
],
"exon_count": 183,
"exon_rank": 179,
"exon_rank_end": null,
"feature": "NM_001271208.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.25002G>C",
"hgvs_p": "p.Glu8334Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258137.2",
"strand": false,
"transcript": "NM_001271208.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 6669,
"aa_ref": "E",
"aa_start": 6443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 20623,
"cdna_start": 19521,
"cds_end": null,
"cds_length": 20010,
"cds_start": 19329,
"consequences": [
"missense_variant"
],
"exon_count": 150,
"exon_rank": 146,
"exon_rank_end": null,
"feature": "NM_004543.5",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.19329G>C",
"hgvs_p": "p.Glu6443Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004534.3",
"strand": false,
"transcript": "NM_004543.5",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 6669,
"aa_ref": "E",
"aa_start": 6443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 20637,
"cdna_start": 19532,
"cds_end": null,
"cds_length": 20010,
"cds_start": 19329,
"consequences": [
"missense_variant"
],
"exon_count": 150,
"exon_rank": 146,
"exon_rank_end": null,
"feature": "ENST00000409198.5",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.19329G>C",
"hgvs_p": "p.Glu6443Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386259.1",
"strand": false,
"transcript": "ENST00000409198.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 3007,
"aa_ref": "E",
"aa_start": 2781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9443,
"cdna_start": 8343,
"cds_end": null,
"cds_length": 9024,
"cds_start": 8343,
"consequences": [
"missense_variant"
],
"exon_count": 74,
"exon_rank": 70,
"exon_rank_end": null,
"feature": "ENST00000413693.5",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.8343G>C",
"hgvs_p": "p.Glu2781Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410961.1",
"strand": false,
"transcript": "ENST00000413693.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 2426,
"aa_ref": "E",
"aa_start": 2200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7283,
"cdna_start": 6602,
"cds_end": null,
"cds_length": 7281,
"cds_start": 6600,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 58,
"exon_rank_end": null,
"feature": "ENST00000690043.1",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.6600G>C",
"hgvs_p": "p.Glu2200Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509961.1",
"strand": false,
"transcript": "ENST00000690043.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "E",
"aa_start": 1068,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4065,
"cdna_start": 3206,
"cds_end": null,
"cds_length": 3885,
"cds_start": 3204,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000434685.6",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.3204G>C",
"hgvs_p": "p.Glu1068Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389074.2",
"strand": false,
"transcript": "ENST00000434685.6",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 724,
"aa_ref": "E",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2177,
"cdna_start": 1496,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1494,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000688578.1",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.1494G>C",
"hgvs_p": "p.Glu498Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509628.1",
"strand": false,
"transcript": "ENST00000688578.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 658,
"aa_ref": "E",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2400,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1296,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000397337.6",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.1296G>C",
"hgvs_p": "p.Glu432Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380498.2",
"strand": false,
"transcript": "ENST00000397337.6",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 8494,
"aa_ref": "E",
"aa_start": 8268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26098,
"cdna_start": 24996,
"cds_end": null,
"cds_length": 25485,
"cds_start": 24804,
"consequences": [
"missense_variant"
],
"exon_count": 181,
"exon_rank": 177,
"exon_rank_end": null,
"feature": "XM_005246590.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24804G>C",
"hgvs_p": "p.Glu8268Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246647.1",
"strand": false,
"transcript": "XM_005246590.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 8494,
"aa_ref": "E",
"aa_start": 8268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26098,
"cdna_start": 24996,
"cds_end": null,
"cds_length": 25485,
"cds_start": 24804,
"consequences": [
"missense_variant"
],
"exon_count": 181,
"exon_rank": 177,
"exon_rank_end": null,
"feature": "XM_005246591.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24804G>C",
"hgvs_p": "p.Glu8268Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246648.1",
"strand": false,
"transcript": "XM_005246591.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 8494,
"aa_ref": "E",
"aa_start": 8268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26098,
"cdna_start": 24996,
"cds_end": null,
"cds_length": 25485,
"cds_start": 24804,
"consequences": [
"missense_variant"
],
"exon_count": 181,
"exon_rank": 177,
"exon_rank_end": null,
"feature": "XM_005246592.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24804G>C",
"hgvs_p": "p.Glu8268Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246649.1",
"strand": false,
"transcript": "XM_005246592.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 8494,
"aa_ref": "E",
"aa_start": 8268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26098,
"cdna_start": 24996,
"cds_end": null,
"cds_length": 25485,
"cds_start": 24804,
"consequences": [
"missense_variant"
],
"exon_count": 181,
"exon_rank": 177,
"exon_rank_end": null,
"feature": "XM_005246593.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24804G>C",
"hgvs_p": "p.Glu8268Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246650.1",
"strand": false,
"transcript": "XM_005246593.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 8494,
"aa_ref": "E",
"aa_start": 8268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26098,
"cdna_start": 24996,
"cds_end": null,
"cds_length": 25485,
"cds_start": 24804,
"consequences": [
"missense_variant"
],
"exon_count": 181,
"exon_rank": 177,
"exon_rank_end": null,
"feature": "XM_005246594.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24804G>C",
"hgvs_p": "p.Glu8268Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246651.1",
"strand": false,
"transcript": "XM_005246594.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 8488,
"aa_ref": "E",
"aa_start": 8262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26080,
"cdna_start": 24978,
"cds_end": null,
"cds_length": 25467,
"cds_start": 24786,
"consequences": [
"missense_variant"
],
"exon_count": 181,
"exon_rank": 177,
"exon_rank_end": null,
"feature": "XM_017004177.2",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24786G>C",
"hgvs_p": "p.Glu8262Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859666.1",
"strand": false,
"transcript": "XM_017004177.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 8463,
"aa_ref": "E",
"aa_start": 8237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 26005,
"cdna_start": 24903,
"cds_end": null,
"cds_length": 25392,
"cds_start": 24711,
"consequences": [
"missense_variant"
],
"exon_count": 180,
"exon_rank": 176,
"exon_rank_end": null,
"feature": "XM_005246596.3",
"gene_hgnc_id": 7720,
"gene_symbol": "NEB",
"hgvs_c": "c.24711G>C",
"hgvs_p": "p.Glu8237Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246653.1",
"strand": false,
"transcript": "XM_005246596.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 8463,
"aa_ref": "E",
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