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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: 15-41727320-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=41727320&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "MGA",
"hgnc_id": 14010,
"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Pro1191Ser",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001400225.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 26,
"alphamissense_prediction": null,
"alphamissense_score": 0.0808,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4789784550666809,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3114,
"aa_ref": "P",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12193,
"cdna_start": 3759,
"cds_end": null,
"cds_length": 9345,
"cds_start": 3571,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001400225.1",
"gene_hgnc_id": 14010,
"gene_symbol": "MGA",
"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Pro1191Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000703841.1",
"protein_coding": true,
"protein_id": "NP_001387154.1",
"strand": true,
"transcript": "NM_001400225.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3114,
"aa_ref": "P",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12193,
"cdna_start": 3759,
"cds_end": null,
"cds_length": 9345,
"cds_start": 3571,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000703841.1",
"gene_hgnc_id": 14010,
"gene_symbol": "MGA",
"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Pro1191Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001400225.1",
"protein_coding": true,
"protein_id": "ENSP00000515495.1",
"strand": true,
"transcript": "ENST00000703841.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2856,
"aa_ref": "P",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14568,
"cdna_start": 3767,
"cds_end": null,
"cds_length": 8571,
"cds_start": 3571,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000566586.6",
"gene_hgnc_id": 14010,
"gene_symbol": "MGA",
"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Pro1191Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456141.1",
"strand": true,
"transcript": "ENST00000566586.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3114,
"aa_ref": "P",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10907,
"cdna_start": 3788,
"cds_end": null,
"cds_length": 9345,
"cds_start": 3571,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000916432.1",
"gene_hgnc_id": 14010,
"gene_symbol": "MGA",
"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Pro1191Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586491.1",
"strand": true,
"transcript": "ENST00000916432.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3065,
"aa_ref": "P",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12046,
"cdna_start": 3759,
"cds_end": null,
"cds_length": 9198,
"cds_start": 3571,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001164273.2",
"gene_hgnc_id": 14010,
"gene_symbol": "MGA",
"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Pro1191Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157745.1",
"strand": true,
"transcript": "NM_001164273.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 3065,
"aa_ref": "P",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12046,
"cdna_start": 3759,
"cds_end": null,
"cds_length": 9198,
"cds_start": 3571,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000219905.13",
"gene_hgnc_id": 14010,
"gene_symbol": "MGA",
"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Pro1191Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000219905.7",
"strand": true,
"transcript": "ENST00000219905.13",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2955,
"aa_ref": "P",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11723,
"cdna_start": 3763,
"cds_end": null,
"cds_length": 8868,
"cds_start": 3571,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000916430.1",
"gene_hgnc_id": 14010,
"gene_symbol": "MGA",
"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Pro1191Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586489.1",
"strand": true,
"transcript": "ENST00000916430.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2905,
"aa_ref": "P",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11545,
"cdna_start": 3739,
"cds_end": null,
"cds_length": 8718,
"cds_start": 3571,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000916431.1",
"gene_hgnc_id": 14010,
"gene_symbol": "MGA",
"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Pro1191Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586490.1",
"strand": true,
"transcript": "ENST00000916431.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2856,
"aa_ref": "P",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11419,
"cdna_start": 3759,
"cds_end": null,
"cds_length": 8571,
"cds_start": 3571,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001080541.3",
"gene_hgnc_id": 14010,
"gene_symbol": "MGA",
"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Pro1191Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001074010.2",
"strand": true,
"transcript": "NM_001080541.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2856,
"aa_ref": "P",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11251,
"cdna_start": 3697,
"cds_end": null,
"cds_length": 8571,
"cds_start": 3571,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000916428.1",
"gene_hgnc_id": 14010,
"gene_symbol": "MGA",
"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Pro1191Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586487.1",
"strand": true,
"transcript": "ENST00000916428.1",
"transcript_support_level": null
},
{
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"aa_length": 2795,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9842,
"cdna_start": 3681,
"cds_end": null,
"cds_length": 8388,
"cds_start": 3571,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000916429.1",
"gene_hgnc_id": 14010,
"gene_symbol": "MGA",
"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Pro1191Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586488.1",
"strand": true,
"transcript": "ENST00000916429.1",
"transcript_support_level": null
},
{
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"aa_length": 2573,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7888,
"cdna_start": 3736,
"cds_end": null,
"cds_length": 7723,
"cds_start": 3571,
"consequences": [
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],
"exon_count": 22,
"exon_rank": 10,
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"feature": "ENST00000570161.6",
"gene_hgnc_id": 14010,
"gene_symbol": "MGA",
"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Pro1191Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000457035.2",
"strand": true,
"transcript": "ENST00000570161.6",
"transcript_support_level": 5
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 3765,
"cds_end": null,
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"cds_start": 3571,
"consequences": [
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],
"exon_count": 20,
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"feature": "NM_001400242.1",
"gene_hgnc_id": 14010,
"gene_symbol": "MGA",
"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Pro1191Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387171.1",
"strand": true,
"transcript": "NM_001400242.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 3115,
"aa_ref": "P",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12196,
"cdna_start": 3759,
"cds_end": null,
"cds_length": 9348,
"cds_start": 3571,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_005254243.4",
"gene_hgnc_id": 14010,
"gene_symbol": "MGA",
"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Pro1191Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005254300.1",
"strand": true,
"transcript": "XM_005254243.4",
"transcript_support_level": null
},
{
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"cdna_end": null,
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"cdna_start": 3713,
"cds_end": null,
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"cds_start": 3571,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_005254246.4",
"gene_hgnc_id": 14010,
"gene_symbol": "MGA",
"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Pro1191Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005254303.1",
"strand": true,
"transcript": "XM_005254246.4",
"transcript_support_level": null
},
{
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"aa_length": 3115,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12172,
"cdna_start": 3735,
"cds_end": null,
"cds_length": 9348,
"cds_start": 3571,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_006720443.5",
"gene_hgnc_id": 14010,
"gene_symbol": "MGA",
"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Pro1191Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720506.1",
"strand": true,
"transcript": "XM_006720443.5",
"transcript_support_level": null
},
{
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"aa_length": 3114,
"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 12147,
"cdna_start": 3713,
"cds_end": null,
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"consequences": [
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],
"exon_count": 24,
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"feature": "XM_047432276.1",
"gene_hgnc_id": 14010,
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"hgvs_c": "c.3571C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047288232.1",
"strand": true,
"transcript": "XM_047432276.1",
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},
{
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"consequences": [
"missense_variant"
],
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"feature": "XM_047432278.1",
"gene_hgnc_id": 14010,
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"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Pro1191Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047288234.1",
"strand": true,
"transcript": "XM_047432278.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 24,
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"feature": "XM_005254249.4",
"gene_hgnc_id": 14010,
"gene_symbol": "MGA",
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"hgvs_p": "p.Pro1191Ser",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005254306.1",
"strand": true,
"transcript": "XM_005254249.4",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12003,
"cdna_start": 3713,
"cds_end": null,
"cds_length": 9201,
"cds_start": 3571,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047432279.1",
"gene_hgnc_id": 14010,
"gene_symbol": "MGA",
"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Pro1191Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288235.1",
"strand": true,
"transcript": "XM_047432279.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 3065,
"aa_ref": "P",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12000,
"cdna_start": 3713,
"cds_end": null,
"cds_length": 9198,
"cds_start": 3571,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047432280.1",
"gene_hgnc_id": 14010,
"gene_symbol": "MGA",
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