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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: 12-109930396-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109930396&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109930396,
"ref": "G",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000355312.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.*2582C>T",
"hgvs_p": null,
"transcript": "NM_057169.5",
"protein_id": "NP_476510.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 759,
"cds_start": -4,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": "ENST00000355312.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.*2582C>T",
"hgvs_p": null,
"transcript": "ENST00000355312.8",
"protein_id": "ENSP00000347464.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 759,
"cds_start": -4,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": "NM_057169.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.*2582C>T",
"hgvs_p": null,
"transcript": "ENST00000457474.6",
"protein_id": "ENSP00000391813.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5291,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "n.552G>A",
"hgvs_p": null,
"transcript": "ENST00000549524.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 3428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.*2582C>T",
"hgvs_p": null,
"transcript": "NM_001135214.3",
"protein_id": "NP_001128686.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": -4,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.*2582C>T",
"hgvs_p": null,
"transcript": "ENST00000361006.9",
"protein_id": "ENSP00000354282.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 729,
"cds_start": -4,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.*2582C>T",
"hgvs_p": null,
"transcript": "NM_001330153.2",
"protein_id": "NP_001317082.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 708,
"cds_start": -4,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.*2582C>T",
"hgvs_p": null,
"transcript": "NM_001135213.3",
"protein_id": "NP_001128685.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.*2582C>T",
"hgvs_p": null,
"transcript": "NM_014776.5",
"protein_id": "NP_055591.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 679,
"cds_start": -4,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.*2582C>T",
"hgvs_p": null,
"transcript": "NM_057170.5",
"protein_id": "NP_476511.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.*2582C>T",
"hgvs_p": null,
"transcript": "XM_005253997.5",
"protein_id": "XP_005254054.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": -4,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.*2582C>T",
"hgvs_p": null,
"transcript": "XM_006719707.5",
"protein_id": "XP_006719770.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 744,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.*2582C>T",
"hgvs_p": null,
"transcript": "XM_047429922.1",
"protein_id": "XP_047285878.1",
"transcript_support_level": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.*2582C>T",
"hgvs_p": null,
"transcript": "XM_047429923.1",
"protein_id": "XP_047285879.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
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"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.*2582C>T",
"hgvs_p": null,
"transcript": "XM_006719708.5",
"protein_id": "XP_006719771.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.*2582C>T",
"hgvs_p": null,
"transcript": "XM_017020258.3",
"protein_id": "XP_016875747.1",
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},
{
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"strand": false,
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"3_prime_UTR_variant"
],
"exon_rank": 19,
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"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.*2582C>T",
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"transcript": "XM_006719709.5",
"protein_id": "XP_006719772.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.*2582C>T",
"hgvs_p": null,
"transcript": "XM_047429926.1",
"protein_id": "XP_047285882.1",
"transcript_support_level": null,
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"aa_end": null,
"aa_length": 697,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
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"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIT2",
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"hgvs_c": "c.*2582C>T",
"hgvs_p": null,
"transcript": "XM_047429924.1",
"protein_id": "XP_047285880.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "GIT2",
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"hgvs_c": "c.*2582C>T",
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"transcript": "XM_047429925.1",
"protein_id": "XP_047285881.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"hgvs_c": "c.*2582C>T",
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"transcript": "XM_006719712.5",
"protein_id": "XP_006719775.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TCHP",
"gene_hgnc_id": 28135,
"hgvs_c": "n.*88-2501G>A",
"hgvs_p": null,
"transcript": "ENST00000544838.5",
"protein_id": "ENSP00000440838.1",
"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,
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"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GIT2",
"gene_hgnc_id": 4273,
"dbsnp": "rs2292354",
"frequency_reference_population": 0.23815909,
"hom_count_reference_population": 4798,
"allele_count_reference_population": 36586,
"gnomad_exomes_af": 0.243369,
"gnomad_genomes_af": 0.238107,
"gnomad_exomes_ac": 367,
"gnomad_genomes_ac": 36219,
"gnomad_exomes_homalt": 45,
"gnomad_genomes_homalt": 4753,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.257,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000355312.8",
"gene_symbol": "GIT2",
"hgnc_id": 4273,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*2582C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000549524.1",
"gene_symbol": "TCHP",
"hgnc_id": 28135,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.552G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}