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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: 17-7260485-GAC-CAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7260485&ref=GAC&alt=CAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM4"
],
"effects": [
"stop_lost"
],
"gene_symbol": "CLDN7",
"hgnc_id": 2049,
"hgvs_c": "c.438_*2delGTCinsTTG",
"hgvs_p": "p.Ter146Tyr???ext*?",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001185023.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000262302",
"hgnc_id": null,
"hgvs_c": "n.223+1334_223+1336delGTCinsTTG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000577138.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1542,
"cdna_start": 960,
"cds_end": null,
"cds_length": 636,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001307.6",
"gene_hgnc_id": 2049,
"gene_symbol": "CLDN7",
"hgvs_c": "c.523_525delGTCinsTTG",
"hgvs_p": "p.Val175Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360325.11",
"protein_coding": true,
"protein_id": "NP_001298.3",
"strand": false,
"transcript": "NM_001307.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1542,
"cdna_start": 960,
"cds_end": null,
"cds_length": 636,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000360325.11",
"gene_hgnc_id": 2049,
"gene_symbol": "CLDN7",
"hgvs_c": "c.523_525delGTCinsTTG",
"hgvs_p": "p.Val175Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001307.6",
"protein_coding": true,
"protein_id": "ENSP00000353475.7",
"strand": false,
"transcript": "ENST00000360325.11",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1228,
"cdna_start": 880,
"cds_end": null,
"cds_length": 636,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397317.8",
"gene_hgnc_id": 2049,
"gene_symbol": "CLDN7",
"hgvs_c": "c.523_525delGTCinsTTG",
"hgvs_p": "p.Val175Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396638.3",
"strand": false,
"transcript": "ENST00000397317.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 98,
"aa_ref": "V",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 485,
"cdna_start": 462,
"cds_end": null,
"cds_length": 299,
"cds_start": 274,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000574070.5",
"gene_hgnc_id": 2049,
"gene_symbol": "CLDN7",
"hgvs_c": "c.274_276delGTCinsTTG",
"hgvs_p": "p.Val92Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460550.1",
"strand": false,
"transcript": "ENST00000574070.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 489,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000577138.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000262302",
"hgvs_c": "n.223+1334_223+1336delGTCinsTTG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000460571.1",
"strand": false,
"transcript": "ENST00000577138.1",
"transcript_support_level": 3
},
{
"aa_alt": "Y?",
"aa_end": null,
"aa_length": 145,
"aa_ref": "*",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1457,
"cdna_start": 875,
"cds_end": null,
"cds_length": 438,
"cds_start": 438,
"consequences": [
"stop_lost"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001185023.2",
"gene_hgnc_id": 2049,
"gene_symbol": "CLDN7",
"hgvs_c": "c.438_*2delGTCinsTTG",
"hgvs_p": "p.Ter146Tyr???ext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171952.1",
"strand": false,
"transcript": "NM_001185023.2",
"transcript_support_level": null
},
{
"aa_alt": "Y?",
"aa_end": null,
"aa_length": 145,
"aa_ref": "*",
"aa_start": 146,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1923,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 438,
"cds_start": 438,
"consequences": [
"stop_lost"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000538261.7",
"gene_hgnc_id": 2049,
"gene_symbol": "CLDN7",
"hgvs_c": "c.438_*2delGTCinsTTG",
"hgvs_p": "p.Ter146Tyr???ext*?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445131.2",
"strand": false,
"transcript": "ENST00000538261.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1462,
"cdna_start": 880,
"cds_end": null,
"cds_length": 636,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001185022.2",
"gene_hgnc_id": 2049,
"gene_symbol": "CLDN7",
"hgvs_c": "c.523_525delGTCinsTTG",
"hgvs_p": "p.Val175Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171951.1",
"strand": false,
"transcript": "NM_001185022.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2103,
"cdna_start": 965,
"cds_end": null,
"cds_length": 636,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888702.1",
"gene_hgnc_id": 2049,
"gene_symbol": "CLDN7",
"hgvs_c": "c.523_525delGTCinsTTG",
"hgvs_p": "p.Val175Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558761.1",
"strand": false,
"transcript": "ENST00000888702.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1242,
"cdna_start": 895,
"cds_end": null,
"cds_length": 636,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888703.1",
"gene_hgnc_id": 2049,
"gene_symbol": "CLDN7",
"hgvs_c": "c.523_525delGTCinsTTG",
"hgvs_p": "p.Val175Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558762.1",
"strand": false,
"transcript": "ENST00000888703.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1447,
"cdna_start": 1101,
"cds_end": null,
"cds_length": 636,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888704.1",
"gene_hgnc_id": 2049,
"gene_symbol": "CLDN7",
"hgvs_c": "c.523_525delGTCinsTTG",
"hgvs_p": "p.Val175Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558763.1",
"strand": false,
"transcript": "ENST00000888704.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1649,
"cdna_start": 1306,
"cds_end": null,
"cds_length": 636,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888705.1",
"gene_hgnc_id": 2049,
"gene_symbol": "CLDN7",
"hgvs_c": "c.523_525delGTCinsTTG",
"hgvs_p": "p.Val175Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558764.1",
"strand": false,
"transcript": "ENST00000888705.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1676,
"cdna_start": 1327,
"cds_end": null,
"cds_length": 636,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888706.1",
"gene_hgnc_id": 2049,
"gene_symbol": "CLDN7",
"hgvs_c": "c.523_525delGTCinsTTG",
"hgvs_p": "p.Val175Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558765.1",
"strand": false,
"transcript": "ENST00000888706.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1234,
"cdna_start": 888,
"cds_end": null,
"cds_length": 636,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888707.1",
"gene_hgnc_id": 2049,
"gene_symbol": "CLDN7",
"hgvs_c": "c.523_525delGTCinsTTG",
"hgvs_p": "p.Val175Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558766.1",
"strand": false,
"transcript": "ENST00000888707.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1524,
"cdna_start": 944,
"cds_end": null,
"cds_length": 636,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888708.1",
"gene_hgnc_id": 2049,
"gene_symbol": "CLDN7",
"hgvs_c": "c.523_525delGTCinsTTG",
"hgvs_p": "p.Val175Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558767.1",
"strand": false,
"transcript": "ENST00000888708.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1237,
"cdna_start": 655,
"cds_end": null,
"cds_length": 636,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000912871.1",
"gene_hgnc_id": 2049,
"gene_symbol": "CLDN7",
"hgvs_c": "c.523_525delGTCinsTTG",
"hgvs_p": "p.Val175Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582930.1",
"strand": false,
"transcript": "ENST00000912871.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1251,
"cdna_start": 670,
"cds_end": null,
"cds_length": 636,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000912872.1",
"gene_hgnc_id": 2049,
"gene_symbol": "CLDN7",
"hgvs_c": "c.523_525delGTCinsTTG",
"hgvs_p": "p.Val175Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582931.1",
"strand": false,
"transcript": "ENST00000912872.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1516,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 636,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000912873.1",
"gene_hgnc_id": 2049,
"gene_symbol": "CLDN7",
"hgvs_c": "c.523_525delGTCinsTTG",
"hgvs_p": "p.Val175Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582932.1",
"strand": false,
"transcript": "ENST00000912873.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1216,
"cdna_start": 870,
"cds_end": null,
"cds_length": 636,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000912874.1",
"gene_hgnc_id": 2049,
"gene_symbol": "CLDN7",
"hgvs_c": "c.523_525delGTCinsTTG",
"hgvs_p": "p.Val175Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582933.1",
"strand": false,
"transcript": "ENST00000912874.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 211,
"aa_ref": "V",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1301,
"cdna_start": 958,
"cds_end": null,
"cds_length": 636,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000912875.1",
"gene_hgnc_id": 2049,
"gene_symbol": "CLDN7",
"hgvs_c": "c.523_525delGTCinsTTG",
"hgvs_p": "p.Val175Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582934.1",
"strand": false,
"transcript": "ENST00000912875.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 156,
"aa_ref": "V",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1377,
"cdna_start": 795,
"cds_end": null,
"cds_length": 471,
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