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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: 11-35418965-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=35418965&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PVS1_Supporting",
"PM2",
"BP6_Moderate"
],
"effects": [
"start_lost"
],
"gene_symbol": "SLC1A2",
"hgnc_id": 10940,
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"inheritance_mode": "AR,AD",
"pathogenic_score": 3,
"score": 1,
"transcript": "NM_004171.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP6_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "SLC1A2-AS2",
"hgnc_id": 40535,
"hgvs_c": "n.4A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000844059.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Supporting,PM2,BP6_Moderate",
"acmg_score": 1,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.09,
"chr": "11",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5349892377853394,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 574,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12006,
"cdna_start": 594,
"cds_end": null,
"cds_length": 1725,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_004171.4",
"gene_hgnc_id": 10940,
"gene_symbol": "SLC1A2",
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000278379.9",
"protein_coding": true,
"protein_id": "NP_004162.2",
"strand": false,
"transcript": "NM_004171.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 574,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12006,
"cdna_start": 594,
"cds_end": null,
"cds_length": 1725,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000278379.9",
"gene_hgnc_id": 10940,
"gene_symbol": "SLC1A2",
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004171.4",
"protein_coding": true,
"protein_id": "ENSP00000278379.3",
"strand": false,
"transcript": "ENST00000278379.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 570,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5773,
"cdna_start": null,
"cds_end": null,
"cds_length": 1713,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395750.6",
"gene_hgnc_id": 10940,
"gene_symbol": "SLC1A2",
"hgvs_c": "c.5+971T>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379099.2",
"strand": false,
"transcript": "ENST00000395750.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 583,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2437,
"cdna_start": 594,
"cds_end": null,
"cds_length": 1752,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000901507.1",
"gene_hgnc_id": 10940,
"gene_symbol": "SLC1A2",
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571566.1",
"strand": false,
"transcript": "ENST00000901507.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 582,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2138,
"cdna_start": 391,
"cds_end": null,
"cds_length": 1749,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000643134.1",
"gene_hgnc_id": 10940,
"gene_symbol": "SLC1A2",
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495188.1",
"strand": false,
"transcript": "ENST00000643134.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 574,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1979,
"cdna_start": 163,
"cds_end": null,
"cds_length": 1725,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000901505.1",
"gene_hgnc_id": 10940,
"gene_symbol": "SLC1A2",
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571564.1",
"strand": false,
"transcript": "ENST00000901505.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 573,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1724,
"cdna_start": 2,
"cds_end": null,
"cds_length": 1724,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000531628.2",
"gene_hgnc_id": 10940,
"gene_symbol": "SLC1A2",
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436029.2",
"strand": false,
"transcript": "ENST00000531628.2",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 572,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2404,
"cdna_start": 594,
"cds_end": null,
"cds_length": 1719,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000901506.1",
"gene_hgnc_id": 10940,
"gene_symbol": "SLC1A2",
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571565.1",
"strand": false,
"transcript": "ENST00000901506.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 563,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2798,
"cdna_start": 589,
"cds_end": null,
"cds_length": 1692,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000643305.1",
"gene_hgnc_id": 10940,
"gene_symbol": "SLC1A2",
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494828.1",
"strand": false,
"transcript": "ENST00000643305.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 562,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5985,
"cdna_start": 249,
"cds_end": null,
"cds_length": 1689,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000642171.1",
"gene_hgnc_id": 10940,
"gene_symbol": "SLC1A2",
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495538.1",
"strand": false,
"transcript": "ENST00000642171.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 529,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3136,
"cdna_start": 617,
"cds_end": null,
"cds_length": 1590,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000901504.1",
"gene_hgnc_id": 10940,
"gene_symbol": "SLC1A2",
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571563.1",
"strand": false,
"transcript": "ENST00000901504.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 518,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1690,
"cdna_start": 134,
"cds_end": null,
"cds_length": 1557,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000606205.6",
"gene_hgnc_id": 10940,
"gene_symbol": "SLC1A2",
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476124.2",
"strand": false,
"transcript": "ENST00000606205.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 496,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11772,
"cdna_start": 594,
"cds_end": null,
"cds_length": 1491,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001439343.1",
"gene_hgnc_id": 10940,
"gene_symbol": "SLC1A2",
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426272.1",
"strand": false,
"transcript": "NM_001439343.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 496,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3911,
"cdna_start": 498,
"cds_end": null,
"cds_length": 1491,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000643522.1",
"gene_hgnc_id": 10940,
"gene_symbol": "SLC1A2",
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496375.1",
"strand": false,
"transcript": "ENST00000643522.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 474,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 590,
"cds_end": null,
"cds_length": 1425,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000644351.1",
"gene_hgnc_id": 10940,
"gene_symbol": "SLC1A2",
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496587.1",
"strand": false,
"transcript": "ENST00000644351.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 408,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1313,
"cdna_start": 88,
"cds_end": null,
"cds_length": 1227,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000449068.2",
"gene_hgnc_id": 10940,
"gene_symbol": "SLC1A2",
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406133.2",
"strand": false,
"transcript": "ENST00000449068.2",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 396,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1351,
"cdna_start": 161,
"cds_end": null,
"cds_length": 1192,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000646847.1",
"gene_hgnc_id": 10940,
"gene_symbol": "SLC1A2",
"hgvs_c": "c.2T>C",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493924.1",
"strand": false,
"transcript": "ENST00000646847.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 611,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4482,
"cdna_start": null,
"cds_end": null,
"cds_length": 1836,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000644779.1",
"gene_hgnc_id": 10940,
"gene_symbol": "SLC1A2",
"hgvs_c": "c.-552T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494258.1",
"strand": false,
"transcript": "ENST00000644779.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 579,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3952,
"cdna_start": null,
"cds_end": null,
"cds_length": 1740,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000645303.1",
"gene_hgnc_id": 10940,
"gene_symbol": "SLC1A2",
"hgvs_c": "c.-145T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496667.1",
"strand": false,
"transcript": "ENST00000645303.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 565,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4086,
"cdna_start": null,
"cds_end": null,
"cds_length": 1698,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000644050.1",
"gene_hgnc_id": 10940,
"gene_symbol": "SLC1A2",
"hgvs_c": "c.-145T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496123.1",
"strand": false,
"transcript": "ENST00000644050.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 570,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11520,
"cdna_start": null,
"cds_end": null,
"cds_length": 1713,
"cds_start": null,
"consequences": [
"intron_variant"
],
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"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.349,
"pos": 35418965,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.261,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_004171.4"
}
]
}