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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: 14-35266761-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=35266761&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PRORP",
"hgnc_id": 19958,
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Asn437Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_014672.4",
"verdict": "Benign"
},
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000258790",
"hgnc_id": null,
"hgvs_c": "n.1310A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -13,
"transcript": "ENST00000557565.1",
"verdict": "Benign"
},
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "PRORP-PSMA6",
"hgnc_id": null,
"hgvs_c": "n.1818A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -13,
"transcript": "NR_182666.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_score": -13,
"allele_count_reference_population": 245934,
"alphamissense_prediction": null,
"alphamissense_score": 0.1236,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "14",
"clinvar_classification": "Benign",
"clinvar_disease": "PRORP-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0016128122806549072,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 583,
"aa_ref": "N",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6186,
"cdna_start": 1688,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_014672.4",
"gene_hgnc_id": 19958,
"gene_symbol": "PRORP",
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Asn437Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000534898.9",
"protein_coding": true,
"protein_id": "NP_055487.2",
"strand": true,
"transcript": "NM_014672.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 583,
"aa_ref": "N",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6186,
"cdna_start": 1688,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000534898.9",
"gene_hgnc_id": 19958,
"gene_symbol": "PRORP",
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Asn437Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014672.4",
"protein_coding": true,
"protein_id": "ENSP00000440915.2",
"strand": true,
"transcript": "ENST00000534898.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 211,
"aa_ref": "N",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1406,
"cdna_start": 513,
"cds_end": null,
"cds_length": 636,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000605870.5",
"gene_hgnc_id": 19958,
"gene_symbol": "PRORP",
"hgvs_c": "c.194A>G",
"hgvs_p": "p.Asn65Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000474299.1",
"strand": true,
"transcript": "ENST00000605870.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3857,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000557565.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000258790",
"hgvs_c": "n.1310A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454657.1",
"strand": true,
"transcript": "ENST00000557565.1",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 583,
"aa_ref": "N",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2759,
"cdna_start": 1818,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001414503.1",
"gene_hgnc_id": 19958,
"gene_symbol": "PRORP",
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Asn437Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401432.1",
"strand": true,
"transcript": "NM_001414503.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 583,
"aa_ref": "N",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5393,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000887494.1",
"gene_hgnc_id": 19958,
"gene_symbol": "PRORP",
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Asn437Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557553.1",
"strand": true,
"transcript": "ENST00000887494.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 583,
"aa_ref": "N",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": 1804,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000887498.1",
"gene_hgnc_id": 19958,
"gene_symbol": "PRORP",
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Asn437Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557557.1",
"strand": true,
"transcript": "ENST00000887498.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 583,
"aa_ref": "N",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7212,
"cdna_start": 2714,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000928184.1",
"gene_hgnc_id": 19958,
"gene_symbol": "PRORP",
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Asn437Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598243.1",
"strand": true,
"transcript": "ENST00000928184.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "N",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2580,
"cdna_start": 1678,
"cds_end": null,
"cds_length": 1716,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000947894.1",
"gene_hgnc_id": 19958,
"gene_symbol": "PRORP",
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Asn437Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617953.1",
"strand": true,
"transcript": "ENST00000947894.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 567,
"aa_ref": "N",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6138,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1262,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001256678.2",
"gene_hgnc_id": 19958,
"gene_symbol": "PRORP",
"hgvs_c": "c.1262A>G",
"hgvs_p": "p.Asn421Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243607.1",
"strand": true,
"transcript": "NM_001256678.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 567,
"aa_ref": "N",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6118,
"cdna_start": 1628,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1262,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000250377.11",
"gene_hgnc_id": 19958,
"gene_symbol": "PRORP",
"hgvs_c": "c.1262A>G",
"hgvs_p": "p.Asn421Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000250377.8",
"strand": true,
"transcript": "ENST00000250377.11",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 567,
"aa_ref": "N",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2232,
"cdna_start": 1686,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1262,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000603544.5",
"gene_hgnc_id": 19958,
"gene_symbol": "PRORP",
"hgvs_c": "c.1262A>G",
"hgvs_p": "p.Asn421Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473856.1",
"strand": true,
"transcript": "ENST00000603544.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 567,
"aa_ref": "N",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2907,
"cdna_start": 1966,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1262,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000887496.1",
"gene_hgnc_id": 19958,
"gene_symbol": "PRORP",
"hgvs_c": "c.1262A>G",
"hgvs_p": "p.Asn421Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557555.1",
"strand": true,
"transcript": "ENST00000887496.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 564,
"aa_ref": "N",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2188,
"cdna_start": 1678,
"cds_end": null,
"cds_length": 1695,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000887499.1",
"gene_hgnc_id": 19958,
"gene_symbol": "PRORP",
"hgvs_c": "c.1310A>G",
"hgvs_p": "p.Asn437Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557558.1",
"strand": true,
"transcript": "ENST00000887499.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 547,
"aa_ref": "N",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2768,
"cdna_start": 1596,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1202,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000887495.1",
"gene_hgnc_id": 19958,
"gene_symbol": "PRORP",
"hgvs_c": "c.1202A>G",
"hgvs_p": "p.Asn401Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557554.1",
"strand": true,
"transcript": "ENST00000887495.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 531,
"aa_ref": "N",
"aa_start": 385,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2479,
"cdna_start": 1542,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1154,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000887497.1",
"gene_hgnc_id": 19958,
"gene_symbol": "PRORP",
"hgvs_c": "c.1154A>G",
"hgvs_p": "p.Asn385Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557556.1",
"strand": true,
"transcript": "ENST00000887497.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 488,
"aa_ref": "N",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5633,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001256679.2",
"gene_hgnc_id": 19958,
"gene_symbol": "PRORP",
"hgvs_c": "c.1025A>G",
"hgvs_p": "p.Asn342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243608.1",
"strand": true,
"transcript": "NM_001256679.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 488,
"aa_ref": "N",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1706,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000604948.5",
"gene_hgnc_id": 19958,
"gene_symbol": "PRORP",
"hgvs_c": "c.1025A>G",
"hgvs_p": "p.Asn342Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000474620.1",
"strand": true,
"transcript": "ENST00000604948.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 211,
"aa_ref": "N",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5181,
"cdna_start": 683,
"cds_end": null,
"cds_length": 636,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001256680.2",
"gene_hgnc_id": 19958,
"gene_symbol": "PRORP",
"hgvs_c": "c.194A>G",
"hgvs_p": "p.Asn65Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243609.1",
"strand": true,
"transcript": "NM_001256680.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 211,
"aa_ref": "N",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5133,
"cdna_start": 635,
"cds_end": null,
"cds_length": 636,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001256681.2",
"gene_hgnc_id": 19958,
"gene_symbol": "PRORP",
"hgvs_c": "c.194A>G",
"hgvs_p": "p.Asn65Ser",
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