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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: 6-138424166-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=138424166&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 138424166,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020464.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4736C>T",
"hgvs_p": "p.Ala1579Val",
"transcript": "NM_001144060.2",
"protein_id": "NP_001137532.1",
"transcript_support_level": null,
"aa_start": 1579,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4736,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 4940,
"cdna_end": null,
"cdna_length": 7063,
"mane_select": "ENST00000343505.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144060.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4736C>T",
"hgvs_p": "p.Ala1579Val",
"transcript": "ENST00000343505.10",
"protein_id": "ENSP00000344672.5",
"transcript_support_level": 5,
"aa_start": 1579,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4736,
"cds_end": null,
"cds_length": 4821,
"cdna_start": 4940,
"cdna_end": null,
"cdna_length": 7063,
"mane_select": "NM_001144060.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343505.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4967C>T",
"hgvs_p": "p.Ala1656Val",
"transcript": "ENST00000491526.7",
"protein_id": "ENSP00000433523.2",
"transcript_support_level": 3,
"aa_start": 1656,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4967,
"cds_end": null,
"cds_length": 5052,
"cdna_start": 5456,
"cdna_end": null,
"cdna_length": 7579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491526.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4748C>T",
"hgvs_p": "p.Ala1583Val",
"transcript": "NM_020464.2",
"protein_id": "NP_065197.1",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1610,
"cds_start": 4748,
"cds_end": null,
"cds_length": 4833,
"cdna_start": 5406,
"cdna_end": null,
"cdna_length": 7529,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020464.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4748C>T",
"hgvs_p": "p.Ala1583Val",
"transcript": "ENST00000427025.6",
"protein_id": "ENSP00000394546.2",
"transcript_support_level": 5,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1610,
"cds_start": 4748,
"cds_end": null,
"cds_length": 4833,
"cdna_start": 5377,
"cdna_end": null,
"cdna_length": 7500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427025.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.5021C>T",
"hgvs_p": "p.Ala1674Val",
"transcript": "XM_011535976.2",
"protein_id": "XP_011534278.2",
"transcript_support_level": null,
"aa_start": 1674,
"aa_end": null,
"aa_length": 1701,
"cds_start": 5021,
"cds_end": null,
"cds_length": 5106,
"cdna_start": 5469,
"cdna_end": null,
"cdna_length": 7592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535976.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4967C>T",
"hgvs_p": "p.Ala1656Val",
"transcript": "XM_047419109.1",
"protein_id": "XP_047275065.1",
"transcript_support_level": null,
"aa_start": 1656,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4967,
"cds_end": null,
"cds_length": 5052,
"cdna_start": 5415,
"cdna_end": null,
"cdna_length": 7538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419109.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4934C>T",
"hgvs_p": "p.Ala1645Val",
"transcript": "XM_011535966.4",
"protein_id": "XP_011534268.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1672,
"cds_start": 4934,
"cds_end": null,
"cds_length": 5019,
"cdna_start": 5268,
"cdna_end": null,
"cdna_length": 7391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535966.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4934C>T",
"hgvs_p": "p.Ala1645Val",
"transcript": "XM_011535967.4",
"protein_id": "XP_011534269.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1672,
"cds_start": 4934,
"cds_end": null,
"cds_length": 5019,
"cdna_start": 5212,
"cdna_end": null,
"cdna_length": 7335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535967.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4934C>T",
"hgvs_p": "p.Ala1645Val",
"transcript": "XM_017011086.3",
"protein_id": "XP_016866575.1",
"transcript_support_level": null,
"aa_start": 1645,
"aa_end": null,
"aa_length": 1672,
"cds_start": 4934,
"cds_end": null,
"cds_length": 5019,
"cdna_start": 5178,
"cdna_end": null,
"cdna_length": 7301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011086.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4889C>T",
"hgvs_p": "p.Ala1630Val",
"transcript": "XM_047419110.1",
"protein_id": "XP_047275066.1",
"transcript_support_level": null,
"aa_start": 1630,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4889,
"cds_end": null,
"cds_length": 4974,
"cdna_start": 5337,
"cdna_end": null,
"cdna_length": 7460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419110.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4880C>T",
"hgvs_p": "p.Ala1627Val",
"transcript": "XM_047419111.1",
"protein_id": "XP_047275067.1",
"transcript_support_level": null,
"aa_start": 1627,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4880,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 5214,
"cdna_end": null,
"cdna_length": 7337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419111.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4880C>T",
"hgvs_p": "p.Ala1627Val",
"transcript": "XM_047419112.1",
"protein_id": "XP_047275068.1",
"transcript_support_level": null,
"aa_start": 1627,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4880,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 5158,
"cdna_end": null,
"cdna_length": 7281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419112.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4835C>T",
"hgvs_p": "p.Ala1612Val",
"transcript": "XM_047419113.1",
"protein_id": "XP_047275069.1",
"transcript_support_level": null,
"aa_start": 1612,
"aa_end": null,
"aa_length": 1639,
"cds_start": 4835,
"cds_end": null,
"cds_length": 4920,
"cdna_start": 5283,
"cdna_end": null,
"cdna_length": 7406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419113.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4829C>T",
"hgvs_p": "p.Ala1610Val",
"transcript": "XM_017011087.1",
"protein_id": "XP_016866576.1",
"transcript_support_level": null,
"aa_start": 1610,
"aa_end": null,
"aa_length": 1637,
"cds_start": 4829,
"cds_end": null,
"cds_length": 4914,
"cdna_start": 5826,
"cdna_end": null,
"cdna_length": 7949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011087.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4793C>T",
"hgvs_p": "p.Ala1598Val",
"transcript": "XM_011535969.3",
"protein_id": "XP_011534271.1",
"transcript_support_level": null,
"aa_start": 1598,
"aa_end": null,
"aa_length": 1625,
"cds_start": 4793,
"cds_end": null,
"cds_length": 4878,
"cdna_start": 4949,
"cdna_end": null,
"cdna_length": 7072,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535969.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4790C>T",
"hgvs_p": "p.Ala1597Val",
"transcript": "XM_011535970.3",
"protein_id": "XP_011534272.1",
"transcript_support_level": null,
"aa_start": 1597,
"aa_end": null,
"aa_length": 1624,
"cds_start": 4790,
"cds_end": null,
"cds_length": 4875,
"cdna_start": 4994,
"cdna_end": null,
"cdna_length": 7117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535970.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4784C>T",
"hgvs_p": "p.Ala1595Val",
"transcript": "XM_017011088.2",
"protein_id": "XP_016866577.1",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 1622,
"cds_start": 4784,
"cds_end": null,
"cds_length": 4869,
"cdna_start": 11927,
"cdna_end": null,
"cdna_length": 14050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011088.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4775C>T",
"hgvs_p": "p.Ala1592Val",
"transcript": "XM_047419114.1",
"protein_id": "XP_047275070.1",
"transcript_support_level": null,
"aa_start": 1592,
"aa_end": null,
"aa_length": 1619,
"cds_start": 4775,
"cds_end": null,
"cds_length": 4860,
"cdna_start": 5772,
"cdna_end": null,
"cdna_length": 7895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419114.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4772C>T",
"hgvs_p": "p.Ala1591Val",
"transcript": "XM_011535971.3",
"protein_id": "XP_011534273.1",
"transcript_support_level": null,
"aa_start": 1591,
"aa_end": null,
"aa_length": 1618,
"cds_start": 4772,
"cds_end": null,
"cds_length": 4857,
"cdna_start": 11170,
"cdna_end": null,
"cdna_length": 13293,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535971.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4748C>T",
"hgvs_p": "p.Ala1583Val",
"transcript": "XM_011535972.3",
"protein_id": "XP_011534274.1",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1610,
"cds_start": 4748,
"cds_end": null,
"cds_length": 4833,
"cdna_start": 4845,
"cdna_end": null,
"cdna_length": 6968,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535972.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4748C>T",
"hgvs_p": "p.Ala1583Val",
"transcript": "XM_047419115.1",
"protein_id": "XP_047275071.1",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
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{
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],
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"dbsnp": "rs527299475",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
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"gnomad_genomes_ac": 3,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0037846267223358154,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_020464.2",
"gene_symbol": "NHSL1",
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"effects": [
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],
"inheritance_mode": "AR",
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}
],
"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
}