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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: 22-35330371-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=35330371&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 35330371,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000449058.7",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.790A>C",
"hgvs_p": "p.Met264Leu",
"transcript": "NM_005488.3",
"protein_id": "NP_005479.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 492,
"cds_start": 790,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": "ENST00000449058.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.790A>C",
"hgvs_p": "p.Met264Leu",
"transcript": "ENST00000449058.7",
"protein_id": "ENSP00000394466.2",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 492,
"cds_start": 790,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 2278,
"mane_select": "NM_005488.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.790A>C",
"hgvs_p": "p.Met264Leu",
"transcript": "ENST00000411850.5",
"protein_id": "ENSP00000413697.1",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 493,
"cds_start": 790,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 915,
"cdna_end": null,
"cdna_length": 2390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.790A>C",
"hgvs_p": "p.Met264Leu",
"transcript": "NM_001135732.2",
"protein_id": "NP_001129204.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 493,
"cds_start": 790,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.691A>C",
"hgvs_p": "p.Met231Leu",
"transcript": "NM_001135729.2",
"protein_id": "NP_001129201.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 460,
"cds_start": 691,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 2298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.691A>C",
"hgvs_p": "p.Met231Leu",
"transcript": "ENST00000447733.5",
"protein_id": "ENSP00000398876.1",
"transcript_support_level": 2,
"aa_start": 231,
"aa_end": null,
"aa_length": 460,
"cds_start": 691,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 2317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.655A>C",
"hgvs_p": "p.Met219Leu",
"transcript": "NM_001135730.2",
"protein_id": "NP_001129202.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 447,
"cds_start": 655,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 2143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.655A>C",
"hgvs_p": "p.Met219Leu",
"transcript": "ENST00000425375.5",
"protein_id": "ENSP00000394924.1",
"transcript_support_level": 2,
"aa_start": 219,
"aa_end": null,
"aa_length": 447,
"cds_start": 655,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.772A>C",
"hgvs_p": "p.Met258Leu",
"transcript": "ENST00000456128.5",
"protein_id": "ENSP00000393714.1",
"transcript_support_level": 5,
"aa_start": 258,
"aa_end": null,
"aa_length": 333,
"cds_start": 772,
"cds_end": null,
"cds_length": 1004,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 1133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.772A>C",
"hgvs_p": "p.Met258Leu",
"transcript": "XM_047441068.1",
"protein_id": "XP_047297024.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 487,
"cds_start": 772,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 2263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.772A>C",
"hgvs_p": "p.Met258Leu",
"transcript": "XM_047441069.1",
"protein_id": "XP_047297025.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 486,
"cds_start": 772,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.589A>C",
"hgvs_p": "p.Met197Leu",
"transcript": "XM_011529818.3",
"protein_id": "XP_011528120.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 426,
"cds_start": 589,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 2300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.334A>C",
"hgvs_p": "p.Met112Leu",
"transcript": "XM_011529820.3",
"protein_id": "XP_011528122.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 341,
"cds_start": 334,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 2202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "c.334A>C",
"hgvs_p": "p.Met112Leu",
"transcript": "XM_047441070.1",
"protein_id": "XP_047297026.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 340,
"cds_start": 334,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 2279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "n.*686A>C",
"hgvs_p": null,
"transcript": "ENST00000404284.6",
"protein_id": "ENSP00000385906.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "n.*627A>C",
"hgvs_p": null,
"transcript": "ENST00000424387.5",
"protein_id": "ENSP00000397492.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "n.189A>C",
"hgvs_p": null,
"transcript": "ENST00000491987.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "n.854A>C",
"hgvs_p": null,
"transcript": "NR_024194.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "n.775A>C",
"hgvs_p": null,
"transcript": "NR_024195.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "n.746A>C",
"hgvs_p": null,
"transcript": "NR_156428.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "n.*686A>C",
"hgvs_p": null,
"transcript": "ENST00000404284.6",
"protein_id": "ENSP00000385906.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"hgvs_c": "n.*627A>C",
"hgvs_p": null,
"transcript": "ENST00000424387.5",
"protein_id": "ENSP00000397492.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TOM1",
"gene_hgnc_id": 11982,
"dbsnp": "rs34371697",
"frequency_reference_population": 6.84473e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84473e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6830083131790161,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.349,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6441,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.268,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000449058.7",
"gene_symbol": "TOM1",
"hgnc_id": 11982,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.790A>C",
"hgvs_p": "p.Met264Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}