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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: 16-28595910-GA-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28595910&ref=GA&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SULT1A2",
"hgnc_id": 11454,
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001054.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000288656",
"hgnc_id": null,
"hgvs_c": "n.305-2343_305-2342delTCinsCA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000677940.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000289754",
"hgnc_id": null,
"hgvs_c": "n.71+24152_71+24153delTCinsCA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000679262.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"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": "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": "T",
"aa_end": null,
"aa_length": 295,
"aa_ref": "I",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1031,
"cdna_start": 79,
"cds_end": null,
"cds_length": 888,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001054.4",
"gene_hgnc_id": 11454,
"gene_symbol": "SULT1A2",
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000335715.9",
"protein_coding": true,
"protein_id": "NP_001045.2",
"strand": false,
"transcript": "NM_001054.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 295,
"aa_ref": "I",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1031,
"cdna_start": 79,
"cds_end": null,
"cds_length": 888,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000335715.9",
"gene_hgnc_id": 11454,
"gene_symbol": "SULT1A2",
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001054.4",
"protein_coding": true,
"protein_id": "ENSP00000338742.4",
"strand": false,
"transcript": "ENST00000335715.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 345,
"aa_ref": "I",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1169,
"cdna_start": 69,
"cds_end": null,
"cds_length": 1038,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898358.1",
"gene_hgnc_id": 11454,
"gene_symbol": "SULT1A2",
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568417.1",
"strand": false,
"transcript": "ENST00000898358.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 300,
"aa_ref": "I",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1062,
"cdna_start": 97,
"cds_end": null,
"cds_length": 903,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898343.1",
"gene_hgnc_id": 11454,
"gene_symbol": "SULT1A2",
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568402.1",
"strand": false,
"transcript": "ENST00000898343.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 295,
"aa_ref": "I",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1195,
"cdna_start": 243,
"cds_end": null,
"cds_length": 888,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400258.1",
"gene_hgnc_id": 11454,
"gene_symbol": "SULT1A2",
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387187.1",
"strand": false,
"transcript": "NM_001400258.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 295,
"aa_ref": "I",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1222,
"cdna_start": 270,
"cds_end": null,
"cds_length": 888,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400259.1",
"gene_hgnc_id": 11454,
"gene_symbol": "SULT1A2",
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387188.1",
"strand": false,
"transcript": "NM_001400259.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 295,
"aa_ref": "I",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1191,
"cdna_start": 239,
"cds_end": null,
"cds_length": 888,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400264.1",
"gene_hgnc_id": 11454,
"gene_symbol": "SULT1A2",
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387193.1",
"strand": false,
"transcript": "NM_001400264.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 295,
"aa_ref": "I",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1894,
"cdna_start": 942,
"cds_end": null,
"cds_length": 888,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_177528.4",
"gene_hgnc_id": 11454,
"gene_symbol": "SULT1A2",
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_803564.2",
"strand": false,
"transcript": "NM_177528.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 295,
"aa_ref": "I",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1322,
"cdna_start": 372,
"cds_end": null,
"cds_length": 888,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395630.5",
"gene_hgnc_id": 11454,
"gene_symbol": "SULT1A2",
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378992.1",
"strand": false,
"transcript": "ENST00000395630.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 295,
"aa_ref": "I",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1247,
"cdna_start": 298,
"cds_end": null,
"cds_length": 888,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898323.1",
"gene_hgnc_id": 11454,
"gene_symbol": "SULT1A2",
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568382.1",
"strand": false,
"transcript": "ENST00000898323.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 295,
"aa_ref": "I",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1350,
"cdna_start": 400,
"cds_end": null,
"cds_length": 888,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898324.1",
"gene_hgnc_id": 11454,
"gene_symbol": "SULT1A2",
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568383.1",
"strand": false,
"transcript": "ENST00000898324.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 295,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1220,
"cdna_start": 271,
"cds_end": null,
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"cds_start": 20,
"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898328.1",
"gene_hgnc_id": 11454,
"gene_symbol": "SULT1A2",
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568387.1",
"strand": false,
"transcript": "ENST00000898328.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 295,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1255,
"cdna_start": 303,
"cds_end": null,
"cds_length": 888,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898332.1",
"gene_hgnc_id": 11454,
"gene_symbol": "SULT1A2",
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568391.1",
"strand": false,
"transcript": "ENST00000898332.1",
"transcript_support_level": null
},
{
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"aa_length": 295,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1248,
"cdna_start": 298,
"cds_end": null,
"cds_length": 888,
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"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000898333.1",
"gene_hgnc_id": 11454,
"gene_symbol": "SULT1A2",
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568392.1",
"strand": false,
"transcript": "ENST00000898333.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 295,
"aa_ref": "I",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1119,
"cdna_start": 167,
"cds_end": null,
"cds_length": 888,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898334.1",
"gene_hgnc_id": 11454,
"gene_symbol": "SULT1A2",
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568393.1",
"strand": false,
"transcript": "ENST00000898334.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 295,
"aa_ref": "I",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 888,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898340.1",
"gene_hgnc_id": 11454,
"gene_symbol": "SULT1A2",
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568399.1",
"strand": false,
"transcript": "ENST00000898340.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1176,
"cdna_start": 226,
"cds_end": null,
"cds_length": 888,
"cds_start": 20,
"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000898342.1",
"gene_hgnc_id": 11454,
"gene_symbol": "SULT1A2",
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568401.1",
"strand": false,
"transcript": "ENST00000898342.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 295,
"aa_ref": "I",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1194,
"cdna_start": 244,
"cds_end": null,
"cds_length": 888,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898346.1",
"gene_hgnc_id": 11454,
"gene_symbol": "SULT1A2",
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568405.1",
"strand": false,
"transcript": "ENST00000898346.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 295,
"aa_ref": "I",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1401,
"cdna_start": 451,
"cds_end": null,
"cds_length": 888,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898348.1",
"gene_hgnc_id": 11454,
"gene_symbol": "SULT1A2",
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568407.1",
"strand": false,
"transcript": "ENST00000898348.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 295,
"aa_ref": "I",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1391,
"cdna_start": 439,
"cds_end": null,
"cds_length": 888,
"cds_start": 20,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898349.1",
"gene_hgnc_id": 11454,
"gene_symbol": "SULT1A2",
"hgvs_c": "c.20_21delTCinsCA",
"hgvs_p": "p.Ile7Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568408.1",
"strand": false,
"transcript": "ENST00000898349.1",
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}
]
}