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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: 17-19343828-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19343828&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "B9D1",
"hgnc_id": 24123,
"hgvs_c": "c.434C>T",
"hgvs_p": "p.Thr145Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_015681.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.37,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Joubert syndrome,Meckel-Gruber syndrome,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07800000160932541,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 204,
"aa_ref": "T",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 913,
"cdna_start": 588,
"cds_end": null,
"cds_length": 615,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_015681.6",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.434C>T",
"hgvs_p": "p.Thr145Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261499.11",
"protein_coding": true,
"protein_id": "NP_056496.1",
"strand": false,
"transcript": "NM_015681.6",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 204,
"aa_ref": "T",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 913,
"cdna_start": 588,
"cds_end": null,
"cds_length": 615,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000261499.11",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.434C>T",
"hgvs_p": "p.Thr145Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015681.6",
"protein_coding": true,
"protein_id": "ENSP00000261499.4",
"strand": false,
"transcript": "ENST00000261499.11",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 121,
"aa_ref": "Q",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1676,
"cdna_start": 436,
"cds_end": null,
"cds_length": 366,
"cds_start": 259,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000674596.1",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.259C>T",
"hgvs_p": "p.Gln87*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501877.1",
"strand": false,
"transcript": "ENST00000674596.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 213,
"aa_ref": "Q",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7288,
"cdna_start": 511,
"cds_end": null,
"cds_length": 642,
"cds_start": 361,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047435750.1",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.361C>T",
"hgvs_p": "p.Gln121*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291706.1",
"strand": false,
"transcript": "XM_047435750.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 204,
"aa_ref": "T",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3480,
"cdna_start": 603,
"cds_end": null,
"cds_length": 615,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000663089.1",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Thr166Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499469.1",
"strand": false,
"transcript": "ENST00000663089.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 187,
"aa_ref": "T",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1120,
"cdna_start": 588,
"cds_end": null,
"cds_length": 564,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001321214.2",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.434C>T",
"hgvs_p": "p.Thr145Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308143.1",
"strand": false,
"transcript": "NM_001321214.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 187,
"aa_ref": "T",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 733,
"cdna_start": 598,
"cds_end": null,
"cds_length": 564,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000395616.7",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.434C>T",
"hgvs_p": "p.Thr145Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378978.3",
"strand": false,
"transcript": "ENST00000395616.7",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 187,
"aa_ref": "T",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3617,
"cdna_start": 525,
"cds_end": null,
"cds_length": 564,
"cds_start": 497,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000671102.1",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Thr166Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499690.1",
"strand": false,
"transcript": "ENST00000671102.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 186,
"aa_ref": "T",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1034,
"cdna_start": 588,
"cds_end": null,
"cds_length": 561,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001321217.2",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.434C>T",
"hgvs_p": "p.Thr145Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308146.1",
"strand": false,
"transcript": "NM_001321217.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 186,
"aa_ref": "T",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 923,
"cdna_start": 479,
"cds_end": null,
"cds_length": 561,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000461069.6",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.434C>T",
"hgvs_p": "p.Thr145Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433359.2",
"strand": false,
"transcript": "ENST00000461069.6",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 183,
"aa_ref": "T",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3497,
"cdna_start": 588,
"cds_end": null,
"cds_length": 552,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001321215.3",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.434C>T",
"hgvs_p": "p.Thr145Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308144.1",
"strand": false,
"transcript": "NM_001321215.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 183,
"aa_ref": "T",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1346,
"cdna_start": 575,
"cds_end": null,
"cds_length": 552,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000647252.1",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.434C>T",
"hgvs_p": "p.Thr145Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495045.1",
"strand": false,
"transcript": "ENST00000647252.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 166,
"aa_ref": "T",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3680,
"cdna_start": 588,
"cds_end": null,
"cds_length": 501,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001321218.2",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.434C>T",
"hgvs_p": "p.Thr145Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308147.1",
"strand": false,
"transcript": "NM_001321218.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 161,
"aa_ref": "T",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 677,
"cdna_start": 588,
"cds_end": null,
"cds_length": 486,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001330149.2",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.434C>T",
"hgvs_p": "p.Thr145Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317078.1",
"strand": false,
"transcript": "NM_001330149.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 92,
"aa_ref": "T",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 586,
"cdna_start": 227,
"cds_end": null,
"cds_length": 279,
"cds_start": 227,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000646248.1",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.227C>T",
"hgvs_p": "p.Thr76Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493599.1",
"strand": false,
"transcript": "ENST00000646248.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 84,
"aa_ref": "T",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 744,
"cdna_start": 423,
"cds_end": null,
"cds_length": 255,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000642870.2",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496409.2",
"strand": false,
"transcript": "ENST00000642870.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 63,
"aa_ref": "T",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1353,
"cdna_start": 695,
"cds_end": null,
"cds_length": 192,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000477478.7",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460939.2",
"strand": false,
"transcript": "ENST00000477478.7",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 57,
"aa_ref": "T",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 593,
"cdna_start": 493,
"cds_end": null,
"cds_length": 174,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000575478.7",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458525.3",
"strand": false,
"transcript": "ENST00000575478.7",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 46,
"aa_ref": "T",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3518,
"cdna_start": 426,
"cds_end": null,
"cds_length": 141,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001368769.2",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355698.1",
"strand": false,
"transcript": "NM_001368769.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 46,
"aa_ref": "T",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 928,
"cdna_start": 695,
"cds_end": null,
"cds_length": 141,
"cds_start": 74,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000582857.2",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463165.2",
"strand": false,
"transcript": "ENST00000582857.2",
"transcript_support_level": 4
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 204,
"aa_ref": "T",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8393,
"cdna_start": 1944,
"cds_end": null,
"cds_length": 615,
"cds_start": 434,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047435751.1",
"gene_hgnc_id": 24123,
"gene_symbol": "B9D1",
"hgvs_c": "c.434C>T",
"hgvs_p": "p.Thr145Ile",
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