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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: 1-13749435-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=13749435&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PRDM2",
"hgnc_id": 9347,
"hgvs_c": "c.459G>C",
"hgvs_p": "p.Glu153Asp",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_012231.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9055,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.36468833684921265,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1718,
"aa_ref": "E",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7279,
"cdna_start": 637,
"cds_end": null,
"cds_length": 5157,
"cds_start": 459,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001393986.1",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "c.459G>C",
"hgvs_p": "p.Glu153Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000311066.10",
"protein_coding": true,
"protein_id": "NP_001380915.1",
"strand": true,
"transcript": "NM_001393986.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1718,
"aa_ref": "E",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7279,
"cdna_start": 637,
"cds_end": null,
"cds_length": 5157,
"cds_start": 459,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000311066.10",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "c.459G>C",
"hgvs_p": "p.Glu153Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001393986.1",
"protein_coding": true,
"protein_id": "ENSP00000312352.6",
"strand": true,
"transcript": "ENST00000311066.10",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1718,
"aa_ref": "E",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7957,
"cdna_start": 1315,
"cds_end": null,
"cds_length": 5157,
"cds_start": 459,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000235372.11",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "c.459G>C",
"hgvs_p": "p.Glu153Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000235372.6",
"strand": true,
"transcript": "ENST00000235372.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1481,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5797,
"cdna_start": null,
"cds_end": null,
"cds_length": 4446,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000343137.8",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "c.-201G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341621.4",
"strand": true,
"transcript": "ENST00000343137.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1481,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6175,
"cdna_start": null,
"cds_end": null,
"cds_length": 4446,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000413440.5",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "c.-145G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411103.1",
"strand": true,
"transcript": "ENST00000413440.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 62,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 705,
"cdna_start": null,
"cds_end": null,
"cds_length": 189,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000503842.5",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "c.-201G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425028.1",
"strand": true,
"transcript": "ENST00000503842.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1718,
"aa_ref": "E",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9058,
"cdna_start": 2416,
"cds_end": null,
"cds_length": 5157,
"cds_start": 459,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_012231.5",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "c.459G>C",
"hgvs_p": "p.Glu153Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_036363.2",
"strand": true,
"transcript": "NM_012231.5",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1682,
"aa_ref": "E",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8560,
"cdna_start": 2416,
"cds_end": null,
"cds_length": 5049,
"cds_start": 459,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_015866.6",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "c.459G>C",
"hgvs_p": "p.Glu153Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056950.2",
"strand": true,
"transcript": "NM_015866.6",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 226,
"aa_ref": "E",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": 637,
"cds_end": null,
"cds_length": 681,
"cds_start": 459,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001135610.2",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "c.459G>C",
"hgvs_p": "p.Glu153Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129082.1",
"strand": true,
"transcript": "NM_001135610.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 226,
"aa_ref": "E",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2688,
"cdna_start": 585,
"cds_end": null,
"cds_length": 681,
"cds_start": 459,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000376048.9",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "c.459G>C",
"hgvs_p": "p.Glu153Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365216.5",
"strand": true,
"transcript": "ENST00000376048.9",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 152,
"aa_ref": "E",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 628,
"cdna_start": 600,
"cds_end": null,
"cds_length": 460,
"cds_start": 432,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000484063.6",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "c.432G>C",
"hgvs_p": "p.Glu144Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423010.1",
"strand": true,
"transcript": "ENST00000484063.6",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1717,
"aa_ref": "E",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5345,
"cdna_start": 624,
"cds_end": null,
"cds_length": 5154,
"cds_start": 456,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047429996.1",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "c.456G>C",
"hgvs_p": "p.Glu152Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285952.1",
"strand": true,
"transcript": "XM_047429996.1",
"transcript_support_level": null
},
{
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"aa_length": 1644,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5284,
"cdna_start": 563,
"cds_end": null,
"cds_length": 4935,
"cds_start": 237,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047429994.1",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "c.237G>C",
"hgvs_p": "p.Glu79Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285950.1",
"strand": true,
"transcript": "XM_047429994.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1608,
"aa_ref": "E",
"aa_start": 79,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6707,
"cdna_start": 563,
"cds_end": null,
"cds_length": 4827,
"cds_start": 237,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047429995.1",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "c.237G>C",
"hgvs_p": "p.Glu79Asp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285951.1",
"strand": true,
"transcript": "XM_047429995.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6663,
"cdna_start": null,
"cds_end": null,
"cds_length": 4554,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001393987.1",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "c.-145G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380916.1",
"strand": true,
"transcript": "NM_001393987.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1481,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6165,
"cdna_start": null,
"cds_end": null,
"cds_length": 4446,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001007257.3",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "c.-145G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001007258.1",
"strand": true,
"transcript": "NM_001007257.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1481,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6221,
"cdna_start": null,
"cds_end": null,
"cds_length": 4446,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001393988.1",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "c.-201G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380917.1",
"strand": true,
"transcript": "NM_001393988.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6232,
"cdna_start": null,
"cds_end": null,
"cds_length": 4446,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047429998.1",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "c.-212G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285954.1",
"strand": true,
"transcript": "XM_047429998.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1100,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000491134.5",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "n.*193G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000424253.1",
"strand": true,
"transcript": "ENST00000491134.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 658,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000491815.1",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "n.12G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000491815.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 541,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000502724.5",
"gene_hgnc_id": 9347,
"gene_symbol": "PRDM2",
"hgvs_c": "n.384G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000502724.5",
"transcript_support_level": 4
},
{
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{
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{
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],
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}
]
}