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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: 6-160139792-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=160139792&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 160139792,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003057.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Gly401Ser",
"transcript": "NM_003057.3",
"protein_id": "NP_003048.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 554,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366963.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003057.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Gly401Ser",
"transcript": "ENST00000366963.9",
"protein_id": "ENSP00000355930.4",
"transcript_support_level": 1,
"aa_start": 401,
"aa_end": null,
"aa_length": 554,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003057.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366963.9"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Gly439Ser",
"transcript": "ENST00000898298.1",
"protein_id": "ENSP00000568357.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 592,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898298.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Gly401Ser",
"transcript": "ENST00000898304.1",
"protein_id": "ENSP00000568363.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 583,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898304.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Gly400Ser",
"transcript": "ENST00000898295.1",
"protein_id": "ENSP00000568354.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 553,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898295.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.1195G>A",
"hgvs_p": "p.Gly399Ser",
"transcript": "ENST00000898297.1",
"protein_id": "ENSP00000568356.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 552,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898297.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.1192G>A",
"hgvs_p": "p.Gly398Ser",
"transcript": "ENST00000898300.1",
"protein_id": "ENSP00000568359.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 551,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898300.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Gly401Ser",
"transcript": "ENST00000898301.1",
"protein_id": "ENSP00000568360.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 550,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898301.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Gly401Ser",
"transcript": "ENST00000898302.1",
"protein_id": "ENSP00000568361.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 530,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898302.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"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": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.1315G>A",
"hgvs_p": "p.Gly439Ser",
"transcript": "ENST00000898305.1",
"protein_id": "ENSP00000568364.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 521,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898305.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Gly401Ser",
"transcript": "NM_153187.2",
"protein_id": "NP_694857.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 506,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153187.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Gly401Ser",
"transcript": "ENST00000324965.8",
"protein_id": "ENSP00000318103.4",
"transcript_support_level": 5,
"aa_start": 401,
"aa_end": null,
"aa_length": 506,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324965.8"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Gly401Ser",
"transcript": "NM_001437335.1",
"protein_id": "NP_001424264.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 483,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437335.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Gly401Ser",
"transcript": "ENST00000457470.6",
"protein_id": "ENSP00000409557.2",
"transcript_support_level": 5,
"aa_start": 401,
"aa_end": null,
"aa_length": 483,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457470.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.979G>A",
"hgvs_p": "p.Gly327Ser",
"transcript": "ENST00000898296.1",
"protein_id": "ENSP00000568355.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 480,
"cds_start": 979,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898296.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Gly401Ser",
"transcript": "ENST00000898299.1",
"protein_id": "ENSP00000568358.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 480,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898299.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Gly401Ser",
"transcript": "XM_005267103.3",
"protein_id": "XP_005267160.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 573,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267103.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "c.1061+3142G>A",
"hgvs_p": null,
"transcript": "ENST00000898303.1",
"protein_id": "ENSP00000568362.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": null,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898303.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "n.*674G>A",
"hgvs_p": null,
"transcript": "ENST00000539263.5",
"protein_id": "ENSP00000443245.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000539263.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ENSG00000301636",
"gene_hgnc_id": null,
"hgvs_c": "n.527C>T",
"hgvs_p": null,
"transcript": "ENST00000780336.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000780336.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "n.*674G>A",
"hgvs_p": null,
"transcript": "ENST00000539263.5",
"protein_id": "ENSP00000443245.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000539263.5"
},
{
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"hgvs_c": "n.1061+3142G>A",
"hgvs_p": null,
"transcript": "ENST00000460902.2",
"protein_id": "ENSP00000439274.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000460902.2"
}
],
"gene_symbol": "SLC22A1",
"gene_hgnc_id": 10963,
"dbsnp": "rs34130495",
"frequency_reference_population": 0.022240907,
"hom_count_reference_population": 509,
"allele_count_reference_population": 35710,
"gnomad_exomes_af": 0.0228654,
"gnomad_genomes_af": 0.0162712,
"gnomad_exomes_ac": 33236,
"gnomad_genomes_ac": 2474,
"gnomad_exomes_homalt": 485,
"gnomad_genomes_homalt": 24,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.018819570541381836,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.637,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5252,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.324,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003057.3",
"gene_symbol": "SLC22A1",
"hgnc_id": 10963,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1201G>A",
"hgvs_p": "p.Gly401Ser"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000780336.1",
"gene_symbol": "ENSG00000301636",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.527C>T",
"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
}