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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: 11-45933982-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=45933982&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "PHF21A",
"hgnc_id": 24156,
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Glu685*",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001441167.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.62,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6200000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 681,
"aa_ref": "E",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7451,
"cdna_start": 2788,
"cds_end": null,
"cds_length": 2046,
"cds_start": 2032,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001352027.3",
"gene_hgnc_id": 24156,
"gene_symbol": "PHF21A",
"hgvs_c": "c.2032G>T",
"hgvs_p": "p.Glu678*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000676320.1",
"protein_coding": true,
"protein_id": "NP_001338956.1",
"strand": false,
"transcript": "NM_001352027.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 681,
"aa_ref": "E",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7451,
"cdna_start": 2788,
"cds_end": null,
"cds_length": 2046,
"cds_start": 2032,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000676320.1",
"gene_hgnc_id": 24156,
"gene_symbol": "PHF21A",
"hgvs_c": "c.2032G>T",
"hgvs_p": "p.Glu678*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001352027.3",
"protein_coding": true,
"protein_id": "ENSP00000502222.1",
"strand": false,
"transcript": "ENST00000676320.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 634,
"aa_ref": "E",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3675,
"cdna_start": 2259,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1891,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000323180.10",
"gene_hgnc_id": 24156,
"gene_symbol": "PHF21A",
"hgvs_c": "c.1891G>T",
"hgvs_p": "p.Glu631*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000323152.6",
"strand": false,
"transcript": "ENST00000323180.10",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 688,
"aa_ref": "E",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7360,
"cdna_start": 2697,
"cds_end": null,
"cds_length": 2067,
"cds_start": 2053,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001441167.1",
"gene_hgnc_id": 24156,
"gene_symbol": "PHF21A",
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Glu685*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428096.1",
"strand": false,
"transcript": "NM_001441167.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 688,
"aa_ref": "E",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7472,
"cdna_start": 2809,
"cds_end": null,
"cds_length": 2067,
"cds_start": 2053,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001441168.1",
"gene_hgnc_id": 24156,
"gene_symbol": "PHF21A",
"hgvs_c": "c.2053G>T",
"hgvs_p": "p.Glu685*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428097.1",
"strand": false,
"transcript": "NM_001441168.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 687,
"aa_ref": "E",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7469,
"cdna_start": 2806,
"cds_end": null,
"cds_length": 2064,
"cds_start": 2050,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001441169.1",
"gene_hgnc_id": 24156,
"gene_symbol": "PHF21A",
"hgvs_c": "c.2050G>T",
"hgvs_p": "p.Glu684*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428098.1",
"strand": false,
"transcript": "NM_001441169.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 687,
"aa_ref": "E",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3375,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 2064,
"cds_start": 2050,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000863274.1",
"gene_hgnc_id": 24156,
"gene_symbol": "PHF21A",
"hgvs_c": "c.2050G>T",
"hgvs_p": "p.Glu684*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533333.1",
"strand": false,
"transcript": "ENST00000863274.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 681,
"aa_ref": "E",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7482,
"cdna_start": 2819,
"cds_end": null,
"cds_length": 2046,
"cds_start": 2032,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001352025.3",
"gene_hgnc_id": 24156,
"gene_symbol": "PHF21A",
"hgvs_c": "c.2032G>T",
"hgvs_p": "p.Glu678*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338954.1",
"strand": false,
"transcript": "NM_001352025.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 681,
"aa_ref": "E",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7339,
"cdna_start": 2676,
"cds_end": null,
"cds_length": 2046,
"cds_start": 2032,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001352026.3",
"gene_hgnc_id": 24156,
"gene_symbol": "PHF21A",
"hgvs_c": "c.2032G>T",
"hgvs_p": "p.Glu678*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338955.1",
"strand": false,
"transcript": "NM_001352026.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 681,
"aa_ref": "E",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6984,
"cdna_start": 2321,
"cds_end": null,
"cds_length": 2046,
"cds_start": 2032,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001441170.1",
"gene_hgnc_id": 24156,
"gene_symbol": "PHF21A",
"hgvs_c": "c.2032G>T",
"hgvs_p": "p.Glu678*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428099.1",
"strand": false,
"transcript": "NM_001441170.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 681,
"aa_ref": "E",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7353,
"cdna_start": 2690,
"cds_end": null,
"cds_length": 2046,
"cds_start": 2032,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000863261.1",
"gene_hgnc_id": 24156,
"gene_symbol": "PHF21A",
"hgvs_c": "c.2032G>T",
"hgvs_p": "p.Glu678*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533320.1",
"strand": false,
"transcript": "ENST00000863261.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 681,
"aa_ref": "E",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3645,
"cdna_start": 2229,
"cds_end": null,
"cds_length": 2046,
"cds_start": 2032,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000863264.1",
"gene_hgnc_id": 24156,
"gene_symbol": "PHF21A",
"hgvs_c": "c.2032G>T",
"hgvs_p": "p.Glu678*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533323.1",
"strand": false,
"transcript": "ENST00000863264.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 681,
"aa_ref": "E",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4259,
"cdna_start": 2837,
"cds_end": null,
"cds_length": 2046,
"cds_start": 2032,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000863265.1",
"gene_hgnc_id": 24156,
"gene_symbol": "PHF21A",
"hgvs_c": "c.2032G>T",
"hgvs_p": "p.Glu678*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533324.1",
"strand": false,
"transcript": "ENST00000863265.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 681,
"aa_ref": "E",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4198,
"cdna_start": 2776,
"cds_end": null,
"cds_length": 2046,
"cds_start": 2032,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000863267.1",
"gene_hgnc_id": 24156,
"gene_symbol": "PHF21A",
"hgvs_c": "c.2032G>T",
"hgvs_p": "p.Glu678*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533326.1",
"strand": false,
"transcript": "ENST00000863267.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 681,
"aa_ref": "E",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3666,
"cdna_start": 2244,
"cds_end": null,
"cds_length": 2046,
"cds_start": 2032,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000863273.1",
"gene_hgnc_id": 24156,
"gene_symbol": "PHF21A",
"hgvs_c": "c.2032G>T",
"hgvs_p": "p.Glu678*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533332.1",
"strand": false,
"transcript": "ENST00000863273.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 681,
"aa_ref": "E",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3714,
"cdna_start": 2292,
"cds_end": null,
"cds_length": 2046,
"cds_start": 2032,
"consequences": [
"stop_gained"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000863276.1",
"gene_hgnc_id": 24156,
"gene_symbol": "PHF21A",
"hgvs_c": "c.2032G>T",
"hgvs_p": "p.Glu678*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533335.1",
"strand": false,
"transcript": "ENST00000863276.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 681,
"aa_ref": "E",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3673,
"cdna_start": 2369,
"cds_end": null,
"cds_length": 2046,
"cds_start": 2032,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000863279.1",
"gene_hgnc_id": 24156,
"gene_symbol": "PHF21A",
"hgvs_c": "c.2032G>T",
"hgvs_p": "p.Glu678*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533338.1",
"strand": false,
"transcript": "ENST00000863279.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 681,
"aa_ref": "E",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3994,
"cdna_start": 2572,
"cds_end": null,
"cds_length": 2046,
"cds_start": 2032,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000863283.1",
"gene_hgnc_id": 24156,
"gene_symbol": "PHF21A",
"hgvs_c": "c.2032G>T",
"hgvs_p": "p.Glu678*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533342.1",
"strand": false,
"transcript": "ENST00000863283.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 681,
"aa_ref": "E",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4009,
"cdna_start": 2587,
"cds_end": null,
"cds_length": 2046,
"cds_start": 2032,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000939559.1",
"gene_hgnc_id": 24156,
"gene_symbol": "PHF21A",
"hgvs_c": "c.2032G>T",
"hgvs_p": "p.Glu678*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609618.1",
"strand": false,
"transcript": "ENST00000939559.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 681,
"aa_ref": "E",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3853,
"cdna_start": 2431,
"cds_end": null,
"cds_length": 2046,
"cds_start": 2032,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000939560.1",
"gene_hgnc_id": 24156,
"gene_symbol": "PHF21A",
"hgvs_c": "c.2032G>T",
"hgvs_p": "p.Glu678*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609619.1",
"strand": false,
"transcript": "ENST00000939560.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 681,
"aa_ref": "E",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4190,
"cdna_start": 2777,
"cds_end": null,
"cds_length": 2046,
"cds_start": 2032,
"consequences": [
"stop_gained"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000939561.1",
"gene_hgnc_id": 24156,
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