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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: 22-36286827-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=36286827&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 18,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYH9",
"hgnc_id": 7579,
"hgvs_c": "c.4952T>C",
"hgvs_p": "p.Met1651Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -18,
"transcript": "NM_002473.6",
"verdict": "Benign"
},
{
"benign_score": 14,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "MIR6819",
"hgnc_id": 50155,
"hgvs_c": "n.*20T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -14,
"transcript": "NR_106877.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BS1,BS2",
"acmg_score": -18,
"allele_count_reference_population": 2680,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1411,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.08,
"chr": "22",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 17,Focal segmental glomerulosclerosis,MYH9-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:6 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08890759944915771,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1960,
"aa_ref": "M",
"aa_start": 1651,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7451,
"cdna_start": 5132,
"cds_end": null,
"cds_length": 5883,
"cds_start": 4952,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "NM_002473.6",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4952T>C",
"hgvs_p": "p.Met1651Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000216181.11",
"protein_coding": true,
"protein_id": "NP_002464.1",
"strand": false,
"transcript": "NM_002473.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1960,
"aa_ref": "M",
"aa_start": 1651,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7451,
"cdna_start": 5132,
"cds_end": null,
"cds_length": 5883,
"cds_start": 4952,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000216181.11",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4952T>C",
"hgvs_p": "p.Met1651Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002473.6",
"protein_coding": true,
"protein_id": "ENSP00000216181.6",
"strand": false,
"transcript": "ENST00000216181.11",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1981,
"aa_ref": "M",
"aa_start": 1672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7536,
"cdna_start": 5229,
"cds_end": null,
"cds_length": 5946,
"cds_start": 5015,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000685801.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5015T>C",
"hgvs_p": "p.Met1672Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510688.1",
"strand": false,
"transcript": "ENST00000685801.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1981,
"aa_ref": "M",
"aa_start": 1672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7504,
"cdna_start": 5188,
"cds_end": null,
"cds_length": 5946,
"cds_start": 5015,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000955568.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5015T>C",
"hgvs_p": "p.Met1672Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625627.1",
"strand": false,
"transcript": "ENST00000955568.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1976,
"aa_ref": "M",
"aa_start": 1667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7497,
"cdna_start": 5179,
"cds_end": null,
"cds_length": 5931,
"cds_start": 5000,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000955563.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.5000T>C",
"hgvs_p": "p.Met1667Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625622.1",
"strand": false,
"transcript": "ENST00000955563.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1973,
"aa_ref": "M",
"aa_start": 1664,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7531,
"cdna_start": 5211,
"cds_end": null,
"cds_length": 5922,
"cds_start": 4991,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000859030.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4991T>C",
"hgvs_p": "p.Met1664Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529089.1",
"strand": false,
"transcript": "ENST00000859030.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1972,
"aa_ref": "M",
"aa_start": 1663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6220,
"cdna_start": 5165,
"cds_end": null,
"cds_length": 5919,
"cds_start": 4988,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "ENST00000955566.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4988T>C",
"hgvs_p": "p.Met1663Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625625.1",
"strand": false,
"transcript": "ENST00000955566.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1960,
"aa_ref": "M",
"aa_start": 1651,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7335,
"cdna_start": 5016,
"cds_end": null,
"cds_length": 5883,
"cds_start": 4952,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000859032.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4952T>C",
"hgvs_p": "p.Met1651Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529091.1",
"strand": false,
"transcript": "ENST00000859032.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1960,
"aa_ref": "M",
"aa_start": 1651,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7001,
"cdna_start": 5047,
"cds_end": null,
"cds_length": 5883,
"cds_start": 4952,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000859033.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4952T>C",
"hgvs_p": "p.Met1651Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529092.1",
"strand": false,
"transcript": "ENST00000859033.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 1960,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7419,
"cdna_start": 5102,
"cds_end": null,
"cds_length": 5883,
"cds_start": 4952,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000859034.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4952T>C",
"hgvs_p": "p.Met1651Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529093.1",
"strand": false,
"transcript": "ENST00000859034.1",
"transcript_support_level": null
},
{
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"aa_length": 1960,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7563,
"cdna_start": 5246,
"cds_end": null,
"cds_length": 5883,
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"consequences": [
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],
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"exon_rank": 35,
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"feature": "ENST00000859035.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4952T>C",
"hgvs_p": "p.Met1651Thr",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000529094.1",
"strand": false,
"transcript": "ENST00000859035.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 5127,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000859036.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4952T>C",
"hgvs_p": "p.Met1651Thr",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000529095.1",
"strand": false,
"transcript": "ENST00000859036.1",
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},
{
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"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 5224,
"cds_end": null,
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"consequences": [
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],
"exon_count": 41,
"exon_rank": 35,
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"feature": "ENST00000859037.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4952T>C",
"hgvs_p": "p.Met1651Thr",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529096.1",
"strand": false,
"transcript": "ENST00000859037.1",
"transcript_support_level": null
},
{
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"cdna_start": 5098,
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"consequences": [
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],
"exon_count": 41,
"exon_rank": 35,
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"feature": "ENST00000955567.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4952T>C",
"hgvs_p": "p.Met1651Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625626.1",
"strand": false,
"transcript": "ENST00000955567.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1959,
"aa_ref": "M",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7446,
"cdna_start": 5128,
"cds_end": null,
"cds_length": 5880,
"cds_start": 4949,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000955564.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4949T>C",
"hgvs_p": "p.Met1650Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625623.1",
"strand": false,
"transcript": "ENST00000955564.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 1958,
"aa_ref": "M",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7078,
"cdna_start": 5124,
"cds_end": null,
"cds_length": 5877,
"cds_start": 4946,
"consequences": [
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],
"exon_count": 41,
"exon_rank": 35,
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"feature": "ENST00000927179.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4946T>C",
"hgvs_p": "p.Met1649Thr",
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"mane_plus": null,
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"protein_coding": true,
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"strand": false,
"transcript": "ENST00000927179.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000955562.1",
"gene_hgnc_id": 7579,
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"hgvs_p": "p.Met1649Thr",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000625621.1",
"strand": false,
"transcript": "ENST00000955562.1",
"transcript_support_level": null
},
{
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"aa_ref": "M",
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"biotype": "protein_coding",
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"cdna_start": 5112,
"cds_end": null,
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"consequences": [
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],
"exon_count": 41,
"exon_rank": 35,
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"feature": "ENST00000955565.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4952T>C",
"hgvs_p": "p.Met1651Thr",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000625624.1",
"strand": false,
"transcript": "ENST00000955565.1",
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},
{
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"aa_length": 1956,
"aa_ref": "M",
"aa_start": 1647,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7439,
"cdna_start": 5120,
"cds_end": null,
"cds_length": 5871,
"cds_start": 4940,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 35,
"exon_rank_end": null,
"feature": "ENST00000859031.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.4940T>C",
"hgvs_p": "p.Met1647Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529090.1",
"strand": false,
"transcript": "ENST00000859031.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 954,
"aa_ref": "M",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4470,
"cdna_start": 2154,
"cds_end": null,
"cds_length": 2865,
"cds_start": 1934,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000927178.1",
"gene_hgnc_id": 7579,
"gene_symbol": "MYH9",
"hgvs_c": "c.1934T>C",
"hgvs_p": "p.Met645Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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}