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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: 16-15741493-AG-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15741493&ref=AG&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "MYH11",
"hgnc_id": 7569,
"hgvs_c": "c.2849_2850delCTinsTC",
"hgvs_p": "p.Ala950Val",
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001040114.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000263065",
"hgnc_id": null,
"hgvs_c": "n.343_344delAGinsGA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000577048.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"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": "V",
"aa_end": null,
"aa_length": 1972,
"aa_ref": "A",
"aa_start": 943,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6880,
"cdna_start": 2934,
"cds_end": null,
"cds_length": 5919,
"cds_start": 2828,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002474.3",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.2828_2829delCTinsTC",
"hgvs_p": "p.Ala943Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000300036.6",
"protein_coding": true,
"protein_id": "NP_002465.1",
"strand": false,
"transcript": "NM_002474.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1972,
"aa_ref": "A",
"aa_start": 943,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6880,
"cdna_start": 2934,
"cds_end": null,
"cds_length": 5919,
"cds_start": 2828,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000300036.6",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.2828_2829delCTinsTC",
"hgvs_p": "p.Ala943Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002474.3",
"protein_coding": true,
"protein_id": "ENSP00000300036.5",
"strand": false,
"transcript": "ENST00000300036.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1945,
"aa_ref": "A",
"aa_start": 950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6940,
"cdna_start": 2955,
"cds_end": null,
"cds_length": 5838,
"cds_start": 2849,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001040113.2",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.2849_2850delCTinsTC",
"hgvs_p": "p.Ala950Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000452625.7",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035202.1",
"strand": false,
"transcript": "NM_001040113.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1945,
"aa_ref": "A",
"aa_start": 950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6940,
"cdna_start": 2955,
"cds_end": null,
"cds_length": 5838,
"cds_start": 2849,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000452625.7",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.2849_2850delCTinsTC",
"hgvs_p": "p.Ala950Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001040113.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407821.2",
"strand": false,
"transcript": "ENST00000452625.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1979,
"aa_ref": "A",
"aa_start": 950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6847,
"cdna_start": 2938,
"cds_end": null,
"cds_length": 5940,
"cds_start": 2849,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396324.7",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.2849_2850delCTinsTC",
"hgvs_p": "p.Ala950Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379616.3",
"strand": false,
"transcript": "ENST00000396324.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1938,
"aa_ref": "A",
"aa_start": 943,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5907,
"cdna_start": 2900,
"cds_end": null,
"cds_length": 5817,
"cds_start": 2828,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000576790.7",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.2828_2829delCTinsTC",
"hgvs_p": "p.Ala943Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458731.1",
"strand": false,
"transcript": "ENST00000576790.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1988,
"aa_ref": "A",
"aa_start": 959,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6139,
"cdna_start": 2984,
"cds_end": null,
"cds_length": 5967,
"cds_start": 2876,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911137.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.2876_2877delCTinsTC",
"hgvs_p": "p.Ala959Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581196.1",
"strand": false,
"transcript": "ENST00000911137.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1985,
"aa_ref": "A",
"aa_start": 943,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6130,
"cdna_start": 2936,
"cds_end": null,
"cds_length": 5958,
"cds_start": 2828,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911136.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.2828_2829delCTinsTC",
"hgvs_p": "p.Ala943Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581195.1",
"strand": false,
"transcript": "ENST00000911136.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1981,
"aa_ref": "A",
"aa_start": 952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6078,
"cdna_start": 2960,
"cds_end": null,
"cds_length": 5946,
"cds_start": 2855,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963704.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.2855_2856delCTinsTC",
"hgvs_p": "p.Ala952Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633763.1",
"strand": false,
"transcript": "ENST00000963704.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1979,
"aa_ref": "A",
"aa_start": 950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6901,
"cdna_start": 2955,
"cds_end": null,
"cds_length": 5940,
"cds_start": 2849,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001040114.2",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.2849_2850delCTinsTC",
"hgvs_p": "p.Ala950Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035203.1",
"strand": false,
"transcript": "NM_001040114.2",
"transcript_support_level": null
},
{
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"aa_length": 1977,
"aa_ref": "A",
"aa_start": 950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6890,
"cdna_start": 2957,
"cds_end": null,
"cds_length": 5934,
"cds_start": 2849,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911133.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.2849_2850delCTinsTC",
"hgvs_p": "p.Ala950Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581192.1",
"strand": false,
"transcript": "ENST00000911133.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1972,
"aa_ref": "A",
"aa_start": 943,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7006,
"cdna_start": 3063,
"cds_end": null,
"cds_length": 5919,
"cds_start": 2828,
"consequences": [
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],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713757.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.2828_2829delCTinsTC",
"hgvs_p": "p.Ala943Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519058.1",
"strand": false,
"transcript": "ENST00000713757.1",
"transcript_support_level": null
},
{
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"aa_length": 1972,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 6335,
"cdna_start": 3180,
"cds_end": null,
"cds_length": 5919,
"cds_start": 2828,
"consequences": [
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],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911134.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.2828_2829delCTinsTC",
"hgvs_p": "p.Ala943Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581193.1",
"strand": false,
"transcript": "ENST00000911134.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1972,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7084,
"cdna_start": 3138,
"cds_end": null,
"cds_length": 5919,
"cds_start": 2828,
"consequences": [
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],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911140.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.2828_2829delCTinsTC",
"hgvs_p": "p.Ala943Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581199.1",
"strand": false,
"transcript": "ENST00000911140.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1972,
"aa_ref": "A",
"aa_start": 943,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6894,
"cdna_start": 2952,
"cds_end": null,
"cds_length": 5919,
"cds_start": 2828,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963701.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.2828_2829delCTinsTC",
"hgvs_p": "p.Ala943Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633760.1",
"strand": false,
"transcript": "ENST00000963701.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1963,
"aa_ref": "A",
"aa_start": 934,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6856,
"cdna_start": 2910,
"cds_end": null,
"cds_length": 5892,
"cds_start": 2801,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963702.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.2801_2802delCTinsTC",
"hgvs_p": "p.Ala934Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633761.1",
"strand": false,
"transcript": "ENST00000963702.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1941,
"aa_ref": "A",
"aa_start": 912,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5998,
"cdna_start": 2843,
"cds_end": null,
"cds_length": 5826,
"cds_start": 2735,
"consequences": [
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],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911139.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.2735_2736delCTinsTC",
"hgvs_p": "p.Ala912Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581198.1",
"strand": false,
"transcript": "ENST00000911139.1",
"transcript_support_level": null
},
{
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"aa_length": 1941,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5959,
"cdna_start": 2841,
"cds_end": null,
"cds_length": 5826,
"cds_start": 2735,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963703.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.2735_2736delCTinsTC",
"hgvs_p": "p.Ala912Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633762.1",
"strand": false,
"transcript": "ENST00000963703.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1940,
"aa_ref": "A",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5995,
"cdna_start": 2840,
"cds_end": null,
"cds_length": 5823,
"cds_start": 2732,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911138.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.2732_2733delCTinsTC",
"hgvs_p": "p.Ala911Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581197.1",
"strand": false,
"transcript": "ENST00000911138.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1938,
"aa_ref": "A",
"aa_start": 943,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6919,
"cdna_start": 2934,
"cds_end": null,
"cds_length": 5817,
"cds_start": 2828,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_022844.3",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.2828_2829delCTinsTC",
"hgvs_p": "p.Ala943Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_074035.1",
"strand": false,
"transcript": "NM_022844.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1914,
"aa_ref": "A",
"aa_start": 885,
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