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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: 12-204677-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=204677&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 204677,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003044.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.236T>G",
"hgvs_p": "p.Phe79Cys",
"transcript": "NM_001122848.3",
"protein_id": "NP_001116320.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 614,
"cds_start": 236,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684302.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122848.3"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.236T>G",
"hgvs_p": "p.Phe79Cys",
"transcript": "ENST00000684302.1",
"protein_id": "ENSP00000508194.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 614,
"cds_start": 236,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001122848.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684302.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.236T>G",
"hgvs_p": "p.Phe79Cys",
"transcript": "ENST00000359674.8",
"protein_id": "ENSP00000352702.4",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 614,
"cds_start": 236,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359674.8"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.236T>G",
"hgvs_p": "p.Phe79Cys",
"transcript": "ENST00000397296.6",
"protein_id": "ENSP00000380464.2",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 614,
"cds_start": 236,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397296.6"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.236T>G",
"hgvs_p": "p.Phe79Cys",
"transcript": "ENST00000424061.6",
"protein_id": "ENSP00000399136.2",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 614,
"cds_start": 236,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424061.6"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.236T>G",
"hgvs_p": "p.Phe79Cys",
"transcript": "ENST00000536824.5",
"protein_id": "ENSP00000444268.1",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 614,
"cds_start": 236,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536824.5"
},
{
"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": "SLC6A12-AS1",
"gene_hgnc_id": 40548,
"hgvs_c": "n.348A>C",
"hgvs_p": null,
"transcript": "ENST00000539568.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000539568.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.-329T>G",
"hgvs_p": null,
"transcript": "XM_047429419.1",
"protein_id": "XP_047285375.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": null,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429419.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.236T>G",
"hgvs_p": "p.Phe79Cys",
"transcript": "ENST00000965396.1",
"protein_id": "ENSP00000635455.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 630,
"cds_start": 236,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965396.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.236T>G",
"hgvs_p": "p.Phe79Cys",
"transcript": "NM_001122847.3",
"protein_id": "NP_001116319.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 614,
"cds_start": 236,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122847.3"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.236T>G",
"hgvs_p": "p.Phe79Cys",
"transcript": "NM_001206931.2",
"protein_id": "NP_001193860.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 614,
"cds_start": 236,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206931.2"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.236T>G",
"hgvs_p": "p.Phe79Cys",
"transcript": "NM_003044.5",
"protein_id": "NP_003035.3",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 614,
"cds_start": 236,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003044.5"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.236T>G",
"hgvs_p": "p.Phe79Cys",
"transcript": "ENST00000855745.1",
"protein_id": "ENSP00000525804.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 614,
"cds_start": 236,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855745.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.236T>G",
"hgvs_p": "p.Phe79Cys",
"transcript": "ENST00000855746.1",
"protein_id": "ENSP00000525805.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 614,
"cds_start": 236,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855746.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.236T>G",
"hgvs_p": "p.Phe79Cys",
"transcript": "ENST00000855747.1",
"protein_id": "ENSP00000525806.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 614,
"cds_start": 236,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855747.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.236T>G",
"hgvs_p": "p.Phe79Cys",
"transcript": "ENST00000855748.1",
"protein_id": "ENSP00000525807.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 614,
"cds_start": 236,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855748.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.236T>G",
"hgvs_p": "p.Phe79Cys",
"transcript": "ENST00000855749.1",
"protein_id": "ENSP00000525808.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 614,
"cds_start": 236,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855749.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.236T>G",
"hgvs_p": "p.Phe79Cys",
"transcript": "ENST00000855750.1",
"protein_id": "ENSP00000525809.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 614,
"cds_start": 236,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855750.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.236T>G",
"hgvs_p": "p.Phe79Cys",
"transcript": "ENST00000855753.1",
"protein_id": "ENSP00000525812.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 614,
"cds_start": 236,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855753.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.236T>G",
"hgvs_p": "p.Phe79Cys",
"transcript": "ENST00000855754.1",
"protein_id": "ENSP00000525813.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 614,
"cds_start": 236,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855754.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.236T>G",
"hgvs_p": "p.Phe79Cys",
"transcript": "ENST00000855755.1",
"protein_id": "ENSP00000525814.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 614,
"cds_start": 236,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855755.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A12",
"gene_hgnc_id": 11045,
"hgvs_c": "c.236T>G",
"hgvs_p": "p.Phe79Cys",
"transcript": "ENST00000855756.1",
"protein_id": "ENSP00000525815.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 614,
"cds_start": 236,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}