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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: 3-112202269-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=112202269&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 112202269,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000305815.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C1",
"gene_hgnc_id": 31401,
"hgvs_c": "c.2303G>T",
"hgvs_p": "p.Ser768Ile",
"transcript": "NM_183061.3",
"protein_id": "NP_898884.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1177,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3534,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 4119,
"mane_select": "ENST00000305815.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C1",
"gene_hgnc_id": 31401,
"hgvs_c": "c.2303G>T",
"hgvs_p": "p.Ser768Ile",
"transcript": "ENST00000305815.10",
"protein_id": "ENSP00000306627.5",
"transcript_support_level": 2,
"aa_start": 768,
"aa_end": null,
"aa_length": 1177,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3534,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 4119,
"mane_select": "NM_183061.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C1",
"gene_hgnc_id": 31401,
"hgvs_c": "c.2159G>T",
"hgvs_p": "p.Ser720Ile",
"transcript": "ENST00000487372.5",
"protein_id": "ENSP00000420688.1",
"transcript_support_level": 1,
"aa_start": 720,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2159,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 2381,
"cdna_end": null,
"cdna_length": 3979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C1",
"gene_hgnc_id": 31401,
"hgvs_c": "c.2159G>T",
"hgvs_p": "p.Ser720Ile",
"transcript": "NM_001320531.2",
"protein_id": "NP_001307460.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2159,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 2370,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C1",
"gene_hgnc_id": 31401,
"hgvs_c": "c.2174G>T",
"hgvs_p": "p.Ser725Ile",
"transcript": "XM_017006246.2",
"protein_id": "XP_016861735.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 1134,
"cds_start": 2174,
"cds_end": null,
"cds_length": 3405,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 3866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C1",
"gene_hgnc_id": 31401,
"hgvs_c": "c.2141G>T",
"hgvs_p": "p.Ser714Ile",
"transcript": "XM_011512718.2",
"protein_id": "XP_011511020.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2141,
"cds_end": null,
"cds_length": 3372,
"cdna_start": 2352,
"cdna_end": null,
"cdna_length": 3957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C1",
"gene_hgnc_id": 31401,
"hgvs_c": "c.2303G>T",
"hgvs_p": "p.Ser768Ile",
"transcript": "XM_011512719.2",
"protein_id": "XP_011511021.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1120,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C1",
"gene_hgnc_id": 31401,
"hgvs_c": "c.2117G>T",
"hgvs_p": "p.Ser706Ile",
"transcript": "XM_017006247.2",
"protein_id": "XP_016861736.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2117,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 3933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C1",
"gene_hgnc_id": 31401,
"hgvs_c": "c.2303G>T",
"hgvs_p": "p.Ser768Ile",
"transcript": "XM_017006248.2",
"protein_id": "XP_016861737.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 1045,
"cds_start": 2303,
"cds_end": null,
"cds_length": 3138,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 3723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C1",
"gene_hgnc_id": 31401,
"hgvs_c": "c.2303G>T",
"hgvs_p": "p.Ser768Ile",
"transcript": "XM_047448022.1",
"protein_id": "XP_047303978.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 913,
"cds_start": 2303,
"cds_end": null,
"cds_length": 2742,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 9974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C1",
"gene_hgnc_id": 31401,
"hgvs_c": "c.2303G>T",
"hgvs_p": "p.Ser768Ile",
"transcript": "XM_017006250.2",
"protein_id": "XP_016861739.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 873,
"cds_start": 2303,
"cds_end": null,
"cds_length": 2622,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 2851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C1",
"gene_hgnc_id": 31401,
"hgvs_c": "c.2303G>T",
"hgvs_p": "p.Ser768Ile",
"transcript": "XM_011512724.2",
"protein_id": "XP_011511026.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 866,
"cds_start": 2303,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C1",
"gene_hgnc_id": 31401,
"hgvs_c": "c.896G>T",
"hgvs_p": "p.Ser299Ile",
"transcript": "XM_011512725.2",
"protein_id": "XP_011511027.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 708,
"cds_start": 896,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C1",
"gene_hgnc_id": 31401,
"hgvs_c": "n.*632G>T",
"hgvs_p": null,
"transcript": "ENST00000471295.1",
"protein_id": "ENSP00000418371.1",
"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": 2733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C1",
"gene_hgnc_id": 31401,
"hgvs_c": "n.1573G>T",
"hgvs_p": null,
"transcript": "NR_135297.2",
"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": 3178,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124909407",
"gene_hgnc_id": null,
"hgvs_c": "n.6669C>A",
"hgvs_p": null,
"transcript": "XR_007096003.1",
"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": 8332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C1",
"gene_hgnc_id": 31401,
"hgvs_c": "n.*632G>T",
"hgvs_p": null,
"transcript": "ENST00000471295.1",
"protein_id": "ENSP00000418371.1",
"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": 2733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9C1",
"gene_hgnc_id": 31401,
"hgvs_c": "c.*124G>T",
"hgvs_p": null,
"transcript": "XM_011512727.3",
"protein_id": "XP_011511029.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 598,
"cds_start": -4,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC9C1",
"gene_hgnc_id": 31401,
"dbsnp": "rs9288938",
"frequency_reference_population": 0.28424993,
"hom_count_reference_population": 66578,
"allele_count_reference_population": 457473,
"gnomad_exomes_af": 0.282278,
"gnomad_genomes_af": 0.303204,
"gnomad_exomes_ac": 411480,
"gnomad_genomes_ac": 45993,
"gnomad_exomes_homalt": 59376,
"gnomad_genomes_homalt": 7202,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004816800355911255,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.251,
"revel_prediction": "Benign",
"alphamissense_score": 0.1447,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.121,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "ENST00000305815.10",
"gene_symbol": "SLC9C1",
"hgnc_id": 31401,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2303G>T",
"hgvs_p": "p.Ser768Ile"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_007096003.1",
"gene_symbol": "LOC124909407",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.6669C>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
}