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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: 2-231108945-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=231108945&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 231108945,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000867.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR2B",
"gene_hgnc_id": 5294,
"hgvs_c": "c.1018T>G",
"hgvs_p": "p.Phe340Val",
"transcript": "NM_000867.5",
"protein_id": "NP_000858.3",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 481,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": "ENST00000258400.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000867.5"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR2B",
"gene_hgnc_id": 5294,
"hgvs_c": "c.1018T>G",
"hgvs_p": "p.Phe340Val",
"transcript": "ENST00000258400.4",
"protein_id": "ENSP00000258400.3",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 481,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": "NM_000867.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258400.4"
},
{
"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": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.1883+21764A>C",
"hgvs_p": null,
"transcript": "NM_002807.4",
"protein_id": "NP_002798.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": null,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3323,
"mane_select": "ENST00000308696.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002807.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.1883+21764A>C",
"hgvs_p": null,
"transcript": "ENST00000308696.11",
"protein_id": "ENSP00000309474.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": null,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3323,
"mane_select": "NM_002807.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308696.11"
},
{
"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": 24,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "n.*1566+21764A>C",
"hgvs_p": null,
"transcript": "ENST00000431051.6",
"protein_id": "ENSP00000400483.1",
"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": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000431051.6"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR2B",
"gene_hgnc_id": 5294,
"hgvs_c": "c.1018T>G",
"hgvs_p": "p.Phe340Val",
"transcript": "ENST00000890916.1",
"protein_id": "ENSP00000560975.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 481,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 2091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890916.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR2B",
"gene_hgnc_id": 5294,
"hgvs_c": "c.1018T>G",
"hgvs_p": "p.Phe340Val",
"transcript": "ENST00000971632.1",
"protein_id": "ENSP00000641691.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 481,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971632.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR2B",
"gene_hgnc_id": 5294,
"hgvs_c": "c.1018T>G",
"hgvs_p": "p.Phe340Val",
"transcript": "ENST00000971633.1",
"protein_id": "ENSP00000641692.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 481,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971633.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR2B",
"gene_hgnc_id": 5294,
"hgvs_c": "c.1018T>G",
"hgvs_p": "p.Phe340Val",
"transcript": "ENST00000971635.1",
"protein_id": "ENSP00000641694.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 481,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971635.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR2B",
"gene_hgnc_id": 5294,
"hgvs_c": "c.892T>G",
"hgvs_p": "p.Phe298Val",
"transcript": "NM_001320758.2",
"protein_id": "NP_001307687.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 439,
"cds_start": 892,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320758.2"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR2B",
"gene_hgnc_id": 5294,
"hgvs_c": "c.817T>G",
"hgvs_p": "p.Phe273Val",
"transcript": "ENST00000971634.1",
"protein_id": "ENSP00000641693.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 414,
"cds_start": 817,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971634.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR2B",
"gene_hgnc_id": 5294,
"hgvs_c": "c.1018T>G",
"hgvs_p": "p.Phe340Val",
"transcript": "XM_047444114.1",
"protein_id": "XP_047300070.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 481,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 2296,
"cdna_end": null,
"cdna_length": 3011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444114.1"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR2B",
"gene_hgnc_id": 5294,
"hgvs_c": "c.943T>G",
"hgvs_p": "p.Phe315Val",
"transcript": "XM_006712482.4",
"protein_id": "XP_006712545.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 456,
"cds_start": 943,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 984,
"cdna_end": null,
"cdna_length": 1699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712482.4"
},
{
"aa_ref": "F",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HTR2B",
"gene_hgnc_id": 5294,
"hgvs_c": "c.661T>G",
"hgvs_p": "p.Phe221Val",
"transcript": "XM_005246520.5",
"protein_id": "XP_005246577.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 362,
"cds_start": 661,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246520.5"
},
{
"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": 26,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.1883+21764A>C",
"hgvs_p": null,
"transcript": "ENST00000971494.1",
"protein_id": "ENSP00000641553.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1002,
"cds_start": null,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971494.1"
},
{
"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": 26,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.1910+21764A>C",
"hgvs_p": null,
"transcript": "ENST00000932107.1",
"protein_id": "ENSP00000602166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 962,
"cds_start": null,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932107.1"
},
{
"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": 24,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.1883+21764A>C",
"hgvs_p": null,
"transcript": "ENST00000677230.1",
"protein_id": "ENSP00000503068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": null,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677230.1"
},
{
"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": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.1883+21764A>C",
"hgvs_p": null,
"transcript": "ENST00000932105.1",
"protein_id": "ENSP00000602164.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 952,
"cds_start": null,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3305,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932105.1"
},
{
"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": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.1874+21764A>C",
"hgvs_p": null,
"transcript": "ENST00000932106.1",
"protein_id": "ENSP00000602165.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": null,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932106.1"
},
{
"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": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.1883+21764A>C",
"hgvs_p": null,
"transcript": "ENST00000932108.1",
"protein_id": "ENSP00000602167.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 950,
"cds_start": null,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932108.1"
},
{
"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": 25,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.1883+21764A>C",
"hgvs_p": null,
"transcript": "ENST00000932109.1",
"protein_id": "ENSP00000602168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 938,
"cds_start": null,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932109.1"
},
{
"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": 24,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.1883+21764A>C",
"hgvs_p": null,
"transcript": "ENST00000677259.1",
"protein_id": "ENSP00000504229.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": null,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
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{
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],
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"gnomad_exomes_homalt": 0,
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.881,
"revel_prediction": "Pathogenic",
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"alphamissense_prediction": "Pathogenic",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000867.5",
"gene_symbol": "HTR2B",
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"effects": [
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"inheritance_mode": "",
"hgvs_c": "c.1018T>G",
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{
"score": 4,
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"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002807.4",
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],
"inheritance_mode": "AD",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}