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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: 5-19483390-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=19483390&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 19483390,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004934.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1793G>A",
"hgvs_p": "p.Arg598Gln",
"transcript": "NM_004934.5",
"protein_id": "NP_004925.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 790,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382275.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004934.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1793G>A",
"hgvs_p": "p.Arg598Gln",
"transcript": "ENST00000382275.6",
"protein_id": "ENSP00000371710.1",
"transcript_support_level": 1,
"aa_start": 598,
"aa_end": null,
"aa_length": 790,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004934.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382275.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1793G>A",
"hgvs_p": "p.Arg598Gln",
"transcript": "ENST00000274170.8",
"protein_id": "ENSP00000274170.3",
"transcript_support_level": 1,
"aa_start": 598,
"aa_end": null,
"aa_length": 790,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274170.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Gly563Arg",
"transcript": "ENST00000506372.5",
"protein_id": "ENSP00000424931.1",
"transcript_support_level": 1,
"aa_start": 563,
"aa_end": null,
"aa_length": 575,
"cds_start": 1687,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506372.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1793G>A",
"hgvs_p": "p.Arg598Gln",
"transcript": "NM_001291956.3",
"protein_id": "NP_001278885.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 790,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291956.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1793G>A",
"hgvs_p": "p.Arg598Gln",
"transcript": "NM_001349556.2",
"protein_id": "NP_001336485.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 790,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349556.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1793G>A",
"hgvs_p": "p.Arg598Gln",
"transcript": "NM_001349558.2",
"protein_id": "NP_001336487.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 790,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349558.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1793G>A",
"hgvs_p": "p.Arg598Gln",
"transcript": "NM_001349559.2",
"protein_id": "NP_001336488.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 790,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349559.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1793G>A",
"hgvs_p": "p.Arg598Gln",
"transcript": "ENST00000507958.5",
"protein_id": "ENSP00000425093.1",
"transcript_support_level": 2,
"aa_start": 598,
"aa_end": null,
"aa_length": 790,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507958.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1793G>A",
"hgvs_p": "p.Arg598Gln",
"transcript": "ENST00000871941.1",
"protein_id": "ENSP00000542000.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 790,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871941.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1793G>A",
"hgvs_p": "p.Arg598Gln",
"transcript": "ENST00000959453.1",
"protein_id": "ENSP00000629512.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 790,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959453.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1673G>A",
"hgvs_p": "p.Arg558Gln",
"transcript": "ENST00000959452.1",
"protein_id": "ENSP00000629511.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 750,
"cds_start": 1673,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959452.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Gly563Arg",
"transcript": "NM_001291957.2",
"protein_id": "NP_001278886.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 575,
"cds_start": 1687,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291957.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1687G>A",
"hgvs_p": "p.Gly563Arg",
"transcript": "NM_001349560.2",
"protein_id": "NP_001336489.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 575,
"cds_start": 1687,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349560.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1684G>A",
"hgvs_p": "p.Gly562Arg",
"transcript": "NM_001167667.3",
"protein_id": "NP_001161139.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 574,
"cds_start": 1684,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167667.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1684G>A",
"hgvs_p": "p.Gly562Arg",
"transcript": "NM_001349561.2",
"protein_id": "NP_001336490.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 574,
"cds_start": 1684,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349561.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1684G>A",
"hgvs_p": "p.Gly562Arg",
"transcript": "ENST00000502796.5",
"protein_id": "ENSP00000422138.1",
"transcript_support_level": 2,
"aa_start": 562,
"aa_end": null,
"aa_length": 574,
"cds_start": 1684,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502796.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1124G>A",
"hgvs_p": "p.Arg375Gln",
"transcript": "NM_001349562.2",
"protein_id": "NP_001336491.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 567,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349562.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1124G>A",
"hgvs_p": "p.Arg375Gln",
"transcript": "NM_001349563.2",
"protein_id": "NP_001336492.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 567,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349563.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1285G>A",
"hgvs_p": "p.Gly429Arg",
"transcript": "ENST00000515257.6",
"protein_id": "ENSP00000427383.1",
"transcript_support_level": 5,
"aa_start": 429,
"aa_end": null,
"aa_length": 441,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515257.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1793G>A",
"hgvs_p": "p.Arg598Gln",
"transcript": "XM_005248228.5",
"protein_id": "XP_005248285.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 790,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248228.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1793G>A",
"hgvs_p": "p.Arg598Gln",
"transcript": "XM_006714435.5",
"protein_id": "XP_006714498.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 790,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
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{
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],
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"dbsnp": "rs766286596",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16698554158210754,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.191,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.194,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004934.5",
"gene_symbol": "CDH18",
"hgnc_id": 1757,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.1793G>A",
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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
}