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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: 2-127428895-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127428895&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP2",
"PP3_Moderate",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PROC",
"hgnc_id": 9451,
"hgvs_c": "c.1521C>G",
"hgvs_p": "p.Ile507Met",
"inheritance_mode": "SD,AD,AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001375607.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC105373608",
"hgnc_id": null,
"hgvs_c": "n.1041-631G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 5,
"score": 5,
"transcript": "XR_007087228.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP2,PP3_Moderate,PP5",
"acmg_score": 4,
"allele_count_reference_population": 12,
"alphamissense_prediction": null,
"alphamissense_score": 0.2582,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.45,
"chr": "2",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " autosomal recessive,Thrombophilia due to protein C deficiency",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9261280298233032,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 461,
"aa_ref": "I",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1769,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1335,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000312.4",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.1335C>G",
"hgvs_p": "p.Ile445Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000234071.8",
"protein_coding": true,
"protein_id": "NP_000303.1",
"strand": true,
"transcript": "NM_000312.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 461,
"aa_ref": "I",
"aa_start": 445,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1769,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1335,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000234071.8",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.1335C>G",
"hgvs_p": "p.Ile445Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000312.4",
"protein_coding": true,
"protein_id": "ENSP00000234071.4",
"strand": true,
"transcript": "ENST00000234071.8",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 523,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001375607.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.1521C>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362536.1",
"strand": true,
"transcript": "NM_001375607.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 522,
"aa_ref": "I",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1885,
"cdna_start": 1538,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1518,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001375602.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.1518C>G",
"hgvs_p": "p.Ile506Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362531.1",
"strand": true,
"transcript": "NM_001375602.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 519,
"aa_ref": "I",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1721,
"cdna_start": 1603,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1509,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883860.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Ile503Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553919.1",
"strand": true,
"transcript": "ENST00000883860.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 519,
"aa_ref": "I",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2118,
"cdna_start": 1798,
"cds_end": null,
"cds_length": 1560,
"cds_start": 1509,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883897.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.1509C>G",
"hgvs_p": "p.Ile503Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553956.1",
"strand": true,
"transcript": "ENST00000883897.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 517,
"aa_ref": "I",
"aa_start": 501,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1870,
"cdna_start": 1523,
"cds_end": null,
"cds_length": 1554,
"cds_start": 1503,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001375606.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.1503C>G",
"hgvs_p": "p.Ile501Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362535.1",
"strand": true,
"transcript": "NM_001375606.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 516,
"aa_ref": "I",
"aa_start": 500,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1867,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1500,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001375603.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.1500C>G",
"hgvs_p": "p.Ile500Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362532.1",
"strand": true,
"transcript": "NM_001375603.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 512,
"aa_ref": "I",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1853,
"cdna_start": 1734,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1488,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883902.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.1488C>G",
"hgvs_p": "p.Ile496Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553961.1",
"strand": true,
"transcript": "ENST00000883902.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 495,
"aa_ref": "I",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": 1524,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1437,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001375605.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.1437C>G",
"hgvs_p": "p.Ile479Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362534.1",
"strand": true,
"transcript": "NM_001375605.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 495,
"aa_ref": "I",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1586,
"cdna_start": 1498,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1437,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000409048.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.1437C>G",
"hgvs_p": "p.Ile479Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386679.1",
"strand": true,
"transcript": "ENST00000409048.1",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 495,
"aa_ref": "I",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": 1631,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1437,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883843.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.1437C>G",
"hgvs_p": "p.Ile479Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553902.1",
"strand": true,
"transcript": "ENST00000883843.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 495,
"aa_ref": "I",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1980,
"cdna_start": 1627,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1437,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883844.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.1437C>G",
"hgvs_p": "p.Ile479Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553903.1",
"strand": true,
"transcript": "ENST00000883844.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 495,
"aa_ref": "I",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1855,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1437,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883854.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.1437C>G",
"hgvs_p": "p.Ile479Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553913.1",
"strand": true,
"transcript": "ENST00000883854.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 495,
"aa_ref": "I",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2151,
"cdna_start": 1801,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1437,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883858.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.1437C>G",
"hgvs_p": "p.Ile479Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553917.1",
"strand": true,
"transcript": "ENST00000883858.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 495,
"aa_ref": "I",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1661,
"cdna_start": 1543,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1437,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883861.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.1437C>G",
"hgvs_p": "p.Ile479Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553920.1",
"strand": true,
"transcript": "ENST00000883861.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 495,
"aa_ref": "I",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": 1746,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1437,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883880.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.1437C>G",
"hgvs_p": "p.Ile479Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553939.1",
"strand": true,
"transcript": "ENST00000883880.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 495,
"aa_ref": "I",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": 1634,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1437,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883881.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.1437C>G",
"hgvs_p": "p.Ile479Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553940.1",
"strand": true,
"transcript": "ENST00000883881.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 495,
"aa_ref": "I",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1943,
"cdna_start": 1623,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1437,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883888.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.1437C>G",
"hgvs_p": "p.Ile479Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553947.1",
"strand": true,
"transcript": "ENST00000883888.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 495,
"aa_ref": "I",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 1674,
"cds_end": null,
"cds_length": 1488,
"cds_start": 1437,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883893.1",
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"hgvs_c": "c.1437C>G",
"hgvs_p": "p.Ile479Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553952.1",
"strand": true,
"transcript": "ENST00000883893.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 495,
"aa_ref": "I",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1797,
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"dbscsnv_ada_score": null,
"dbsnp": "rs121918157",
"effect": "missense_variant",
"frequency_reference_population": 0.0000074355526,
"gene_hgnc_id": 9451,
"gene_symbol": "PROC",
"gnomad_exomes_ac": 11,
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"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
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"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Thrombophilia due to protein C deficiency, autosomal recessive",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.108,
"pos": 127428895,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.706,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_001375607.1"
}
]
}