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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: 19-5687363-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=5687363&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 5687363,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001267868.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "c.490T>C",
"hgvs_p": "p.Ser164Pro",
"transcript": "NM_198706.3",
"protein_id": "NP_941995.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 286,
"cds_start": 490,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000339423.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198706.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "c.490T>C",
"hgvs_p": "p.Ser164Pro",
"transcript": "ENST00000339423.7",
"protein_id": "ENSP00000340436.2",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 286,
"cds_start": 490,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198706.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339423.7"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "c.490T>C",
"hgvs_p": "p.Ser164Pro",
"transcript": "ENST00000423665.6",
"protein_id": "ENSP00000407154.2",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 315,
"cds_start": 490,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423665.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "c.490T>C",
"hgvs_p": "p.Ser164Pro",
"transcript": "ENST00000581773.5",
"protein_id": "ENSP00000462975.1",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 286,
"cds_start": 490,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581773.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Ser83Pro",
"transcript": "ENST00000577917.5",
"protein_id": "ENSP00000463073.1",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 234,
"cds_start": 247,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577917.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Ser83Pro",
"transcript": "ENST00000301382.8",
"protein_id": "ENSP00000301382.4",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 205,
"cds_start": 247,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301382.8"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "c.229T>C",
"hgvs_p": "p.Ser77Pro",
"transcript": "ENST00000342970.6",
"protein_id": "ENSP00000343451.2",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 199,
"cds_start": 229,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342970.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "c.88T>C",
"hgvs_p": "p.Ser30Pro",
"transcript": "ENST00000411793.6",
"protein_id": "ENSP00000398955.2",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 181,
"cds_start": 88,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000411793.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "c.88T>C",
"hgvs_p": "p.Ser30Pro",
"transcript": "ENST00000581893.5",
"protein_id": "ENSP00000464454.1",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 152,
"cds_start": 88,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581893.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "n.693T>C",
"hgvs_p": null,
"transcript": "ENST00000578167.5",
"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": "retained_intron",
"feature": "ENST00000578167.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "n.*150T>C",
"hgvs_p": null,
"transcript": "ENST00000579562.5",
"protein_id": "ENSP00000462113.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000579562.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "n.*150T>C",
"hgvs_p": null,
"transcript": "ENST00000579562.5",
"protein_id": "ENSP00000462113.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000579562.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Ser211Pro",
"transcript": "NM_001267868.2",
"protein_id": "NP_001254797.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 333,
"cds_start": 631,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267868.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Ser211Pro",
"transcript": "ENST00000616276.4",
"protein_id": "ENSP00000480443.1",
"transcript_support_level": 5,
"aa_start": 211,
"aa_end": null,
"aa_length": 333,
"cds_start": 631,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616276.4"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "c.490T>C",
"hgvs_p": "p.Ser164Pro",
"transcript": "NM_198533.3",
"protein_id": "NP_940935.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 315,
"cds_start": 490,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198533.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "c.490T>C",
"hgvs_p": "p.Ser164Pro",
"transcript": "ENST00000581521.5",
"protein_id": "ENSP00000463794.1",
"transcript_support_level": 5,
"aa_start": 164,
"aa_end": null,
"aa_length": 286,
"cds_start": 490,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581521.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "c.490T>C",
"hgvs_p": "p.Ser164Pro",
"transcript": "ENST00000889039.1",
"protein_id": "ENSP00000559098.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 286,
"cds_start": 490,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889039.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "c.490T>C",
"hgvs_p": "p.Ser164Pro",
"transcript": "ENST00000889041.1",
"protein_id": "ENSP00000559100.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 286,
"cds_start": 490,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889041.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "c.490T>C",
"hgvs_p": "p.Ser164Pro",
"transcript": "ENST00000889042.1",
"protein_id": "ENSP00000559101.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 286,
"cds_start": 490,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889042.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "c.490T>C",
"hgvs_p": "p.Ser164Pro",
"transcript": "ENST00000971819.1",
"protein_id": "ENSP00000641878.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 286,
"cds_start": 490,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971819.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Ser83Pro",
"transcript": "NM_001267871.2",
"protein_id": "NP_001254800.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 234,
"cds_start": 247,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267871.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD11B1L",
"gene_hgnc_id": 30419,
"hgvs_c": "c.286T>C",
"hgvs_p": "p.Ser96Pro",
"transcript": "ENST00000889040.1",
"protein_id": "ENSP00000559099.1",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 218,
"cds_start": 286,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"dbsnp": "rs145508592",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9172837734222412,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.896,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9058,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.729,
"phylop100way_prediction": "Benign",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001267868.2",
"gene_symbol": "HSD11B1L",
"hgnc_id": 30419,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.631T>C",
"hgvs_p": "p.Ser211Pro"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000577222.5",
"gene_symbol": "RPL36",
"hgnc_id": 13631,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-300+2244T>C",
"hgvs_p": null
}
],
"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
}