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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: 3-14443750-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=14443750&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 14443750,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000622186.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "NM_003043.6",
"protein_id": "NP_003034.2",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 620,
"cds_start": 116,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 6500,
"mane_select": "ENST00000622186.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000622186.5",
"protein_id": "ENSP00000480890.1",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 620,
"cds_start": 116,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 6500,
"mane_select": "NM_003043.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "c.419C>T",
"hgvs_p": "p.Pro140Leu",
"transcript": "ENST00000613060.4",
"protein_id": "ENSP00000481625.1",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 721,
"cds_start": 419,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 6526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000621751.4",
"protein_id": "ENSP00000482560.1",
"transcript_support_level": 1,
"aa_start": 39,
"aa_end": null,
"aa_length": 200,
"cds_start": 116,
"cds_end": null,
"cds_length": 603,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 1252,
"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": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "n.*24C>T",
"hgvs_p": null,
"transcript": "ENST00000622176.4",
"protein_id": "ENSP00000482220.1",
"transcript_support_level": 1,
"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": 1116,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "n.*24C>T",
"hgvs_p": null,
"transcript": "ENST00000622176.4",
"protein_id": "ENSP00000482220.1",
"transcript_support_level": 1,
"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": 1116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "c.419C>T",
"hgvs_p": "p.Pro140Leu",
"transcript": "NM_001134367.3",
"protein_id": "NP_001127839.2",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 721,
"cds_start": 419,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 6526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "NM_001134368.4",
"protein_id": "NP_001127840.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 200,
"cds_start": 116,
"cds_end": null,
"cds_length": 603,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 1266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "ENST00000452775.1",
"protein_id": "ENSP00000402059.1",
"transcript_support_level": 4,
"aa_start": 39,
"aa_end": null,
"aa_length": 108,
"cds_start": 116,
"cds_end": null,
"cds_length": 329,
"cdna_start": 245,
"cdna_end": null,
"cdna_length": 458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Pro68Leu",
"transcript": "XM_006713307.3",
"protein_id": "XP_006713370.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 649,
"cds_start": 203,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 6588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu",
"transcript": "XM_011534030.2",
"protein_id": "XP_011532332.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 620,
"cds_start": 116,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 6287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "c.203C>T",
"hgvs_p": "p.Pro68Leu",
"transcript": "XM_047448763.1",
"protein_id": "XP_047304719.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 388,
"cds_start": 203,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 1466,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "n.*24C>T",
"hgvs_p": null,
"transcript": "ENST00000610642.4",
"protein_id": "ENSP00000482391.1",
"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,
"cdna_end": null,
"cdna_length": 1983,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "n.396C>T",
"hgvs_p": null,
"transcript": "ENST00000613930.4",
"protein_id": null,
"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": 988,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "n.419C>T",
"hgvs_p": null,
"transcript": "ENST00000618278.4",
"protein_id": "ENSP00000481946.1",
"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": 6401,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "n.*24C>T",
"hgvs_p": null,
"transcript": "ENST00000649500.1",
"protein_id": "ENSP00000497250.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 6480,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "n.411C>T",
"hgvs_p": null,
"transcript": "NR_103507.3",
"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": 6375,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "n.499C>T",
"hgvs_p": null,
"transcript": "XR_940495.4",
"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": 2132,
"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": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "n.*24C>T",
"hgvs_p": null,
"transcript": "ENST00000610642.4",
"protein_id": "ENSP00000482391.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"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": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "n.*24C>T",
"hgvs_p": null,
"transcript": "ENST00000649500.1",
"protein_id": "ENSP00000497250.1",
"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": 6480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "n.243-1967C>T",
"hgvs_p": null,
"transcript": "ENST00000615188.1",
"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": 689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"hgvs_c": "c.-527C>T",
"hgvs_p": null,
"transcript": "XM_047448762.1",
"protein_id": "XP_047304718.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 449,
"cds_start": -4,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC6A6",
"gene_hgnc_id": 11052,
"dbsnp": "rs571621473",
"frequency_reference_population": 0.000029120414,
"hom_count_reference_population": 0,
"allele_count_reference_population": 47,
"gnomad_exomes_af": 0.0000273652,
"gnomad_genomes_af": 0.000045968,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13476595282554626,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.214,
"revel_prediction": "Benign",
"alphamissense_score": 0.1254,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.853,
"phylop100way_prediction": "Uncertain_significance",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000622186.5",
"gene_symbol": "SLC6A6",
"hgnc_id": 11052,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.116C>T",
"hgvs_p": "p.Pro39Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}