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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: 10-128063140-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=128063140&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 128063140,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001323355.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ala228Val",
"transcript": "NM_006504.6",
"protein_id": "NP_006495.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 700,
"cds_start": 683,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000254667.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006504.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ala228Val",
"transcript": "ENST00000254667.8",
"protein_id": "ENSP00000254667.3",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 700,
"cds_start": 683,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006504.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254667.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ala170Val",
"transcript": "ENST00000306042.9",
"protein_id": "ENSP00000303350.5",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 642,
"cds_start": 509,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306042.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.743C>T",
"hgvs_p": "p.Ala248Val",
"transcript": "NM_001323355.2",
"protein_id": "NP_001310284.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 720,
"cds_start": 743,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323355.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ala246Val",
"transcript": "NM_001323356.2",
"protein_id": "NP_001310285.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 718,
"cds_start": 737,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323356.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.716C>T",
"hgvs_p": "p.Ala239Val",
"transcript": "NM_001316676.2",
"protein_id": "NP_001303605.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 711,
"cds_start": 716,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316676.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ala228Val",
"transcript": "NM_001316677.2",
"protein_id": "NP_001303606.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 700,
"cds_start": 683,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001316677.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ala228Val",
"transcript": "NM_001323354.2",
"protein_id": "NP_001310283.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 700,
"cds_start": 683,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323354.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ala228Val",
"transcript": "ENST00000870711.1",
"protein_id": "ENSP00000540770.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 700,
"cds_start": 683,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870711.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ala228Val",
"transcript": "ENST00000870713.1",
"protein_id": "ENSP00000540772.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 700,
"cds_start": 683,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870713.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ala228Val",
"transcript": "ENST00000968589.1",
"protein_id": "ENSP00000638648.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 700,
"cds_start": 683,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968589.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ala228Val",
"transcript": "ENST00000968593.1",
"protein_id": "ENSP00000638652.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 700,
"cds_start": 683,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968593.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ala228Val",
"transcript": "ENST00000968596.1",
"protein_id": "ENSP00000638655.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 700,
"cds_start": 683,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968596.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ala228Val",
"transcript": "ENST00000968597.1",
"protein_id": "ENSP00000638656.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 700,
"cds_start": 683,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968597.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ala228Val",
"transcript": "ENST00000968598.1",
"protein_id": "ENSP00000638657.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 700,
"cds_start": 683,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968598.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ala228Val",
"transcript": "ENST00000870712.1",
"protein_id": "ENSP00000540771.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 699,
"cds_start": 683,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870712.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ala228Val",
"transcript": "ENST00000968591.1",
"protein_id": "ENSP00000638650.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 699,
"cds_start": 683,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968591.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ala228Val",
"transcript": "ENST00000870714.1",
"protein_id": "ENSP00000540773.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 698,
"cds_start": 683,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870714.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ala228Val",
"transcript": "ENST00000968594.1",
"protein_id": "ENSP00000638653.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 696,
"cds_start": 683,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968594.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ala228Val",
"transcript": "ENST00000968595.1",
"protein_id": "ENSP00000638654.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 695,
"cds_start": 683,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968595.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ala228Val",
"transcript": "ENST00000968590.1",
"protein_id": "ENSP00000638649.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 660,
"cds_start": 683,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968590.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRE",
"gene_hgnc_id": 9669,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Ala228Val",
"transcript": "ENST00000968592.1",
"protein_id": "ENSP00000638651.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 660,
"cds_start": 683,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968592.1"
},
{
"aa_ref": "A",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000164174,
"gnomad_genomes_af": 0.00000656944,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7283397912979126,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.586,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1325,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.709,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001323355.2",
"gene_symbol": "PTPRE",
"hgnc_id": 9669,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.743C>T",
"hgvs_p": "p.Ala248Val"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000772878.1",
"gene_symbol": "ENSG00000300601",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.30G>A",
"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
}