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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: 1-11796286-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11796286&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MTHFR",
"hgnc_id": 7436,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Asp275Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_001330358.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_score": -14,
"allele_count_reference_population": 78,
"alphamissense_prediction": null,
"alphamissense_score": 0.0695,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Homocystinuria due to methylene tetrahydrofolate reductase deficiency,Thrombophilia due to thrombin defect",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.026335835456848145,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 656,
"aa_ref": "D",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7018,
"cdna_start": 790,
"cds_end": null,
"cds_length": 1971,
"cds_start": 700,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_005957.5",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Asp234Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376590.9",
"protein_coding": true,
"protein_id": "NP_005948.3",
"strand": false,
"transcript": "NM_005957.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 656,
"aa_ref": "D",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7018,
"cdna_start": 790,
"cds_end": null,
"cds_length": 1971,
"cds_start": 700,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000376590.9",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Asp234Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005957.5",
"protein_coding": true,
"protein_id": "ENSP00000365775.3",
"strand": false,
"transcript": "ENST00000376590.9",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 696,
"aa_ref": "D",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 832,
"cds_end": null,
"cds_length": 2091,
"cds_start": 820,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000423400.7",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.820G>A",
"hgvs_p": "p.Asp274Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398908.3",
"strand": false,
"transcript": "ENST00000423400.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 656,
"aa_ref": "D",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8378,
"cdna_start": 2150,
"cds_end": null,
"cds_length": 1971,
"cds_start": 700,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000376592.6",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Asp234Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365777.1",
"strand": false,
"transcript": "ENST00000376592.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 697,
"aa_ref": "D",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7074,
"cdna_start": 846,
"cds_end": null,
"cds_length": 2094,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001330358.2",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Asp275Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317287.1",
"strand": false,
"transcript": "NM_001330358.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 697,
"aa_ref": "D",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7044,
"cdna_start": 823,
"cds_end": null,
"cds_length": 2094,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000376583.7",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Asp275Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365767.3",
"strand": false,
"transcript": "ENST00000376583.7",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 697,
"aa_ref": "D",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8094,
"cdna_start": 1875,
"cds_end": null,
"cds_length": 2094,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000376585.6",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Asp275Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365770.1",
"strand": false,
"transcript": "ENST00000376585.6",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 696,
"aa_ref": "D",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7071,
"cdna_start": 843,
"cds_end": null,
"cds_length": 2091,
"cds_start": 820,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001410750.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.820G>A",
"hgvs_p": "p.Asp274Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397679.1",
"strand": false,
"transcript": "NM_001410750.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 663,
"aa_ref": "D",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2797,
"cdna_start": 850,
"cds_end": null,
"cds_length": 1992,
"cds_start": 700,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000970342.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Asp234Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640401.1",
"strand": false,
"transcript": "ENST00000970342.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 656,
"aa_ref": "D",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3661,
"cdna_start": 1732,
"cds_end": null,
"cds_length": 1971,
"cds_start": 700,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911085.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Asp234Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581144.1",
"strand": false,
"transcript": "ENST00000911085.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 642,
"aa_ref": "D",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1929,
"cds_start": 700,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000641407.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Asp234Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493098.1",
"strand": false,
"transcript": "ENST00000641407.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 606,
"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5985,
"cdna_start": 787,
"cds_end": null,
"cds_length": 1821,
"cds_start": 700,
"consequences": [
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],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911084.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Asp234Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581143.1",
"strand": false,
"transcript": "ENST00000911084.1",
"transcript_support_level": null
},
{
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"aa_length": 606,
"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 2803,
"cdna_start": 876,
"cds_end": null,
"cds_length": 1821,
"cds_start": 700,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
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"feature": "ENST00000911086.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Asp234Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581145.1",
"strand": false,
"transcript": "ENST00000911086.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 606,
"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2178,
"cdna_start": 846,
"cds_end": null,
"cds_length": 1821,
"cds_start": 700,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000911087.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Asp234Asn",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581146.1",
"strand": false,
"transcript": "ENST00000911087.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_ref": "D",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3066,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1821,
"cds_start": 700,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000970341.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Asp234Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640400.1",
"strand": false,
"transcript": "ENST00000970341.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 595,
"aa_ref": "D",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2570,
"cdna_start": 831,
"cds_end": null,
"cds_length": 1788,
"cds_start": 700,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000970343.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Asp234Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640402.1",
"strand": false,
"transcript": "ENST00000970343.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 683,
"aa_ref": "D",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6892,
"cdna_start": 846,
"cds_end": null,
"cds_length": 2052,
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"consequences": [
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],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011541496.4",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Asp275Asn",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011539798.1",
"strand": false,
"transcript": "XM_011541496.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_ref": "D",
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"biotype": "protein_coding",
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"cdna_start": 843,
"cds_end": null,
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"cds_start": 820,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047421174.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.820G>A",
"hgvs_p": "p.Asp274Asn",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277130.1",
"strand": false,
"transcript": "XM_047421174.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_ref": "D",
"aa_start": 234,
"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7015,
"cdna_start": 787,
"cds_end": null,
"cds_length": 1971,
"cds_start": 700,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_005263462.5",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Asp234Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005263519.1",
"strand": false,
"transcript": "XM_005263462.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 656,
"aa_ref": "D",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7556,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 1971,
"cds_start": 700,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047421178.1",
"gene_hgnc_id": 7436,
"gene_symbol": "MTHFR",
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Asp234Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277134.1",
"strand": false,
"transcript": "XM_047421178.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 647,
"aa_ref": "D",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6924,
"cdna_start": 846,
"cds_end": null,
"cds_length": 1944,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017001328.3",
"gene_hgnc_id": 7436,
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