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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: 14-23388221-CA-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23388221&ref=CA&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYH6",
"hgnc_id": 7576,
"hgvs_c": "c.4292_4293delTGinsCA",
"hgvs_p": "p.Met1431Thr",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_002471.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "M",
"aa_start": 1431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5940,
"cdna_start": 4360,
"cds_end": null,
"cds_length": 5820,
"cds_start": 4292,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002471.4",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.4292_4293delTGinsCA",
"hgvs_p": "p.Met1431Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000405093.9",
"protein_coding": true,
"protein_id": "NP_002462.2",
"strand": false,
"transcript": "NM_002471.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "M",
"aa_start": 1431,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5940,
"cdna_start": 4360,
"cds_end": null,
"cds_length": 5820,
"cds_start": 4292,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000405093.9",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.4292_4293delTGinsCA",
"hgvs_p": "p.Met1431Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002471.4",
"protein_coding": true,
"protein_id": "ENSP00000386041.3",
"strand": false,
"transcript": "ENST00000405093.9",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1950,
"aa_ref": "M",
"aa_start": 1442,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6363,
"cdna_start": 4397,
"cds_end": null,
"cds_length": 5853,
"cds_start": 4325,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968262.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.4325_4326delTGinsCA",
"hgvs_p": "p.Met1442Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638321.1",
"strand": false,
"transcript": "ENST00000968262.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1947,
"aa_ref": "M",
"aa_start": 1431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6407,
"cdna_start": 4392,
"cds_end": null,
"cds_length": 5844,
"cds_start": 4292,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968257.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.4292_4293delTGinsCA",
"hgvs_p": "p.Met1431Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638316.1",
"strand": false,
"transcript": "ENST00000968257.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1946,
"aa_ref": "M",
"aa_start": 1431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5970,
"cdna_start": 4365,
"cds_end": null,
"cds_length": 5841,
"cds_start": 4292,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968271.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.4292_4293delTGinsCA",
"hgvs_p": "p.Met1431Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638330.1",
"strand": false,
"transcript": "ENST00000968271.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1945,
"aa_ref": "M",
"aa_start": 1437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6380,
"cdna_start": 4413,
"cds_end": null,
"cds_length": 5838,
"cds_start": 4310,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968258.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.4310_4311delTGinsCA",
"hgvs_p": "p.Met1437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638317.1",
"strand": false,
"transcript": "ENST00000968258.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1945,
"aa_ref": "M",
"aa_start": 1437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6054,
"cdna_start": 4470,
"cds_end": null,
"cds_length": 5838,
"cds_start": 4310,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968274.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.4310_4311delTGinsCA",
"hgvs_p": "p.Met1437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638333.1",
"strand": false,
"transcript": "ENST00000968274.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1945,
"aa_ref": "M",
"aa_start": 1437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6107,
"cdna_start": 4524,
"cds_end": null,
"cds_length": 5838,
"cds_start": 4310,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968289.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.4310_4311delTGinsCA",
"hgvs_p": "p.Met1437Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638348.1",
"strand": false,
"transcript": "ENST00000968289.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "M",
"aa_start": 1431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6520,
"cdna_start": 4553,
"cds_end": null,
"cds_length": 5820,
"cds_start": 4292,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968250.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.4292_4293delTGinsCA",
"hgvs_p": "p.Met1431Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638309.1",
"strand": false,
"transcript": "ENST00000968250.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "M",
"aa_start": 1431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6410,
"cdna_start": 4421,
"cds_end": null,
"cds_length": 5820,
"cds_start": 4292,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968253.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.4292_4293delTGinsCA",
"hgvs_p": "p.Met1431Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638312.1",
"strand": false,
"transcript": "ENST00000968253.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "M",
"aa_start": 1431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6410,
"cdna_start": 4445,
"cds_end": null,
"cds_length": 5820,
"cds_start": 4292,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968255.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.4292_4293delTGinsCA",
"hgvs_p": "p.Met1431Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638314.1",
"strand": false,
"transcript": "ENST00000968255.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "M",
"aa_start": 1431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6050,
"cdna_start": 4474,
"cds_end": null,
"cds_length": 5820,
"cds_start": 4292,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968256.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.4292_4293delTGinsCA",
"hgvs_p": "p.Met1431Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638315.1",
"strand": false,
"transcript": "ENST00000968256.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1939,
"aa_ref": "M",
"aa_start": 1431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6448,
"cdna_start": 4458,
"cds_end": null,
"cds_length": 5820,
"cds_start": 4292,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968259.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.4292_4293delTGinsCA",
"hgvs_p": "p.Met1431Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638318.1",
"strand": false,
"transcript": "ENST00000968259.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "M",
"aa_start": 1431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6975,
"cdna_start": 5005,
"cds_end": null,
"cds_length": 5820,
"cds_start": 4292,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968261.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.4292_4293delTGinsCA",
"hgvs_p": "p.Met1431Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638320.1",
"strand": false,
"transcript": "ENST00000968261.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "M",
"aa_start": 1431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5964,
"cdna_start": 4383,
"cds_end": null,
"cds_length": 5820,
"cds_start": 4292,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968281.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.4292_4293delTGinsCA",
"hgvs_p": "p.Met1431Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638340.1",
"strand": false,
"transcript": "ENST00000968281.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "M",
"aa_start": 1431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5998,
"cdna_start": 4415,
"cds_end": null,
"cds_length": 5820,
"cds_start": 4292,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968282.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.4292_4293delTGinsCA",
"hgvs_p": "p.Met1431Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638341.1",
"strand": false,
"transcript": "ENST00000968282.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "M",
"aa_start": 1431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5972,
"cdna_start": 4389,
"cds_end": null,
"cds_length": 5820,
"cds_start": 4292,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968283.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.4292_4293delTGinsCA",
"hgvs_p": "p.Met1431Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638342.1",
"strand": false,
"transcript": "ENST00000968283.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "M",
"aa_start": 1431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6002,
"cdna_start": 4425,
"cds_end": null,
"cds_length": 5820,
"cds_start": 4292,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968287.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.4292_4293delTGinsCA",
"hgvs_p": "p.Met1431Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638346.1",
"strand": false,
"transcript": "ENST00000968287.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "M",
"aa_start": 1431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6469,
"cdna_start": 4503,
"cds_end": null,
"cds_length": 5820,
"cds_start": 4292,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968288.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.4292_4293delTGinsCA",
"hgvs_p": "p.Met1431Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638347.1",
"strand": false,
"transcript": "ENST00000968288.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "M",
"aa_start": 1431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6352,
"cdna_start": 4767,
"cds_end": null,
"cds_length": 5820,
"cds_start": 4292,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968290.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.4292_4293delTGinsCA",
"hgvs_p": "p.Met1431Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638349.1",
"strand": false,
"transcript": "ENST00000968290.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1938,
"aa_ref": "M",
"aa_start": 1431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6440,
"cdna_start": 4454,
"cds_end": null,
"cds_length": 5817,
"cds_start": 4292,
"consequences": [
"missense_variant"
],
"exon_count": 39,
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}