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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: 9-8319964-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=8319964&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 8319964,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_002839.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5537C>T",
"hgvs_p": "p.Ala1846Val",
"transcript": "NM_002839.4",
"protein_id": "NP_002830.1",
"transcript_support_level": null,
"aa_start": 1846,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5537,
"cds_end": null,
"cds_length": 5739,
"cdna_start": 6559,
"cdna_end": null,
"cdna_length": 10389,
"mane_select": "ENST00000381196.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5537C>T",
"hgvs_p": "p.Ala1846Val",
"transcript": "ENST00000381196.9",
"protein_id": "ENSP00000370593.3",
"transcript_support_level": 5,
"aa_start": 1846,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5537,
"cds_end": null,
"cds_length": 5739,
"cdna_start": 6559,
"cdna_end": null,
"cdna_length": 10389,
"mane_select": "NM_002839.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4319C>T",
"hgvs_p": "p.Ala1440Val",
"transcript": "ENST00000355233.9",
"protein_id": "ENSP00000347373.5",
"transcript_support_level": 1,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1506,
"cds_start": 4319,
"cds_end": null,
"cds_length": 4521,
"cdna_start": 4422,
"cdna_end": null,
"cdna_length": 8251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4316C>T",
"hgvs_p": "p.Ala1439Val",
"transcript": "ENST00000397606.7",
"protein_id": "ENSP00000380731.3",
"transcript_support_level": 1,
"aa_start": 1439,
"aa_end": null,
"aa_length": 1505,
"cds_start": 4316,
"cds_end": null,
"cds_length": 4518,
"cdna_start": 4367,
"cdna_end": null,
"cdna_length": 5038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4316C>T",
"hgvs_p": "p.Ala1439Val",
"transcript": "ENST00000486161.5",
"protein_id": "ENSP00000417093.1",
"transcript_support_level": 1,
"aa_start": 1439,
"aa_end": null,
"aa_length": 1505,
"cds_start": 4316,
"cds_end": null,
"cds_length": 4518,
"cdna_start": 4367,
"cdna_end": null,
"cdna_length": 5039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4289C>T",
"hgvs_p": "p.Ala1430Val",
"transcript": "ENST00000537002.5",
"protein_id": "ENSP00000440515.2",
"transcript_support_level": 1,
"aa_start": 1430,
"aa_end": null,
"aa_length": 1496,
"cds_start": 4289,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 4395,
"cdna_end": null,
"cdna_length": 8224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5597C>T",
"hgvs_p": "p.Ala1866Val",
"transcript": "NM_001377958.1",
"protein_id": "NP_001364887.1",
"transcript_support_level": null,
"aa_start": 1866,
"aa_end": null,
"aa_length": 1932,
"cds_start": 5597,
"cds_end": null,
"cds_length": 5799,
"cdna_start": 5930,
"cdna_end": null,
"cdna_length": 9760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5552C>T",
"hgvs_p": "p.Ala1851Val",
"transcript": "NM_001378058.1",
"protein_id": "NP_001364987.1",
"transcript_support_level": null,
"aa_start": 1851,
"aa_end": null,
"aa_length": 1917,
"cds_start": 5552,
"cds_end": null,
"cds_length": 5754,
"cdna_start": 5885,
"cdna_end": null,
"cdna_length": 9715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5537C>T",
"hgvs_p": "p.Ala1846Val",
"transcript": "ENST00000356435.9",
"protein_id": "ENSP00000348812.5",
"transcript_support_level": 5,
"aa_start": 1846,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5537,
"cds_end": null,
"cds_length": 5739,
"cdna_start": 5643,
"cdna_end": null,
"cdna_length": 9472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5537C>T",
"hgvs_p": "p.Ala1846Val",
"transcript": "ENST00000540109.5",
"protein_id": "ENSP00000438164.1",
"transcript_support_level": 5,
"aa_start": 1846,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5537,
"cds_end": null,
"cds_length": 5739,
"cdna_start": 5643,
"cdna_end": null,
"cdna_length": 6210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5537C>T",
"hgvs_p": "p.Ala1846Val",
"transcript": "ENST00000850942.1",
"protein_id": "ENSP00000521027.1",
"transcript_support_level": null,
"aa_start": 1846,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5537,
"cds_end": null,
"cds_length": 5739,
"cdna_start": 6720,
"cdna_end": null,
"cdna_length": 10550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4328C>T",
"hgvs_p": "p.Ala1443Val",
"transcript": "NM_001377946.1",
"protein_id": "NP_001364875.1",
"transcript_support_level": null,
"aa_start": 1443,
"aa_end": null,
"aa_length": 1509,
"cds_start": 4328,
"cds_end": null,
"cds_length": 4530,
"cdna_start": 4661,
"cdna_end": null,
"cdna_length": 8491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4325C>T",
"hgvs_p": "p.Ala1442Val",
"transcript": "ENST00000397617.8",
"protein_id": "ENSP00000380741.4",
"transcript_support_level": 5,
"aa_start": 1442,
"aa_end": null,
"aa_length": 1508,
"cds_start": 4325,
"cds_end": null,
"cds_length": 4527,
"cdna_start": 4428,
"cdna_end": null,
"cdna_length": 8257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4319C>T",
"hgvs_p": "p.Ala1440Val",
"transcript": "NM_130392.3",
"protein_id": "NP_569076.2",
"transcript_support_level": null,
"aa_start": 1440,
"aa_end": null,
"aa_length": 1506,
"cds_start": 4319,
"cds_end": null,
"cds_length": 4521,
"cdna_start": 4422,
"cdna_end": null,
"cdna_length": 8252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4316C>T",
"hgvs_p": "p.Ala1439Val",
"transcript": "NM_001171025.2",
"protein_id": "NP_001164496.1",
"transcript_support_level": null,
"aa_start": 1439,
"aa_end": null,
"aa_length": 1505,
"cds_start": 4316,
"cds_end": null,
"cds_length": 4518,
"cdna_start": 4649,
"cdna_end": null,
"cdna_length": 8479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4316C>T",
"hgvs_p": "p.Ala1439Val",
"transcript": "NM_130391.4",
"protein_id": "NP_569075.2",
"transcript_support_level": null,
"aa_start": 1439,
"aa_end": null,
"aa_length": 1505,
"cds_start": 4316,
"cds_end": null,
"cds_length": 4518,
"cdna_start": 4480,
"cdna_end": null,
"cdna_length": 8310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4307C>T",
"hgvs_p": "p.Ala1436Val",
"transcript": "NM_001040712.2",
"protein_id": "NP_001035802.1",
"transcript_support_level": null,
"aa_start": 1436,
"aa_end": null,
"aa_length": 1502,
"cds_start": 4307,
"cds_end": null,
"cds_length": 4509,
"cdna_start": 4410,
"cdna_end": null,
"cdna_length": 8240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4307C>T",
"hgvs_p": "p.Ala1436Val",
"transcript": "ENST00000397611.7",
"protein_id": "ENSP00000380735.3",
"transcript_support_level": 5,
"aa_start": 1436,
"aa_end": null,
"aa_length": 1502,
"cds_start": 4307,
"cds_end": null,
"cds_length": 4509,
"cdna_start": 4413,
"cdna_end": null,
"cdna_length": 8242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4298C>T",
"hgvs_p": "p.Ala1433Val",
"transcript": "NM_001377947.1",
"protein_id": "NP_001364876.1",
"transcript_support_level": null,
"aa_start": 1433,
"aa_end": null,
"aa_length": 1499,
"cds_start": 4298,
"cds_end": null,
"cds_length": 4500,
"cdna_start": 4897,
"cdna_end": null,
"cdna_length": 8727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4289C>T",
"hgvs_p": "p.Ala1430Val",
"transcript": "NM_130393.3",
"protein_id": "NP_569077.2",
"transcript_support_level": null,
"aa_start": 1430,
"aa_end": null,
"aa_length": 1496,
"cds_start": 4289,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 4392,
"cdna_end": null,
"cdna_length": 8222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5597C>T",
"hgvs_p": "p.Ala1866Val",
"transcript": "XM_017014958.3",
"protein_id": "XP_016870447.1",
"transcript_support_level": null,
"aa_start": 1866,
"aa_end": null,
"aa_length": 1932,
"cds_start": 5597,
"cds_end": null,
"cds_length": 5799,
"cdna_start": 6304,
"cdna_end": null,
"cdna_length": 10134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5597C>T",
"hgvs_p": "p.Ala1866Val",
"transcript": "XM_017014961.3",
"protein_id": "XP_016870450.1",
"transcript_support_level": null,
"aa_start": 1866,
"aa_end": null,
"aa_length": 1932,
"cds_start": 5597,
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong,BS2",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 4,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002839.4",
"gene_symbol": "PTPRD",
"hgnc_id": 9668,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5537C>T",
"hgvs_p": "p.Ala1846Val"
}
],
"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
}