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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: 1-212951681-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=212951681&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "VASH2",
"hgnc_id": 25723,
"hgvs_c": "c.-57G>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001136474.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "ENSG00000306165",
"hgnc_id": null,
"hgvs_c": "n.-37C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000815954.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.3812,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.27182233333587646,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 355,
"aa_ref": "V",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4473,
"cdna_start": 543,
"cds_end": null,
"cds_length": 1068,
"cds_start": 139,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001301056.2",
"gene_hgnc_id": 25723,
"gene_symbol": "VASH2",
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Val47Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000517399.3",
"protein_coding": true,
"protein_id": "NP_001287985.1",
"strand": true,
"transcript": "NM_001301056.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 355,
"aa_ref": "V",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4473,
"cdna_start": 543,
"cds_end": null,
"cds_length": 1068,
"cds_start": 139,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000517399.3",
"gene_hgnc_id": 25723,
"gene_symbol": "VASH2",
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Val47Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001301056.2",
"protein_coding": true,
"protein_id": "ENSP00000428324.1",
"strand": true,
"transcript": "ENST00000517399.3",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 311,
"aa_ref": "V",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": 449,
"cds_end": null,
"cds_length": 936,
"cds_start": 139,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000366965.6",
"gene_hgnc_id": 25723,
"gene_symbol": "VASH2",
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Val47Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355932.2",
"strand": true,
"transcript": "ENST00000366965.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 290,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4277,
"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001136474.3",
"gene_hgnc_id": 25723,
"gene_symbol": "VASH2",
"hgvs_c": "c.-57G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129946.1",
"strand": true,
"transcript": "NM_001136474.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 290,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1369,
"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000366966.6",
"gene_hgnc_id": 25723,
"gene_symbol": "VASH2",
"hgvs_c": "c.-57G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430319.1",
"strand": true,
"transcript": "ENST00000366966.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 290,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4224,
"cdna_start": null,
"cds_end": null,
"cds_length": 873,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000366968.8",
"gene_hgnc_id": 25723,
"gene_symbol": "VASH2",
"hgvs_c": "c.-57G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355935.4",
"strand": true,
"transcript": "ENST00000366968.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 24,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 581,
"cdna_start": null,
"cds_end": null,
"cds_length": 75,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000490792.1",
"gene_hgnc_id": 25723,
"gene_symbol": "VASH2",
"hgvs_c": "c.-57G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419918.1",
"strand": true,
"transcript": "ENST00000490792.1",
"transcript_support_level": 4
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 417,
"aa_ref": "V",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4595,
"cdna_start": 479,
"cds_end": null,
"cds_length": 1254,
"cds_start": 139,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000917486.1",
"gene_hgnc_id": 25723,
"gene_symbol": "VASH2",
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Val47Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587545.1",
"strand": true,
"transcript": "ENST00000917486.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 372,
"aa_ref": "V",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4454,
"cdna_start": 477,
"cds_end": null,
"cds_length": 1119,
"cds_start": 139,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000917490.1",
"gene_hgnc_id": 25723,
"gene_symbol": "VASH2",
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Val47Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587549.1",
"strand": true,
"transcript": "ENST00000917490.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 355,
"aa_ref": "V",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5870,
"cdna_start": 687,
"cds_end": null,
"cds_length": 1068,
"cds_start": 139,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000917479.1",
"gene_hgnc_id": 25723,
"gene_symbol": "VASH2",
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Val47Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587538.1",
"strand": true,
"transcript": "ENST00000917479.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 355,
"aa_ref": "V",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4237,
"cdna_start": 307,
"cds_end": null,
"cds_length": 1068,
"cds_start": 139,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000917482.1",
"gene_hgnc_id": 25723,
"gene_symbol": "VASH2",
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Val47Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587541.1",
"strand": true,
"transcript": "ENST00000917482.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 355,
"aa_ref": "V",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5018,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 1068,
"cds_start": 139,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000917484.1",
"gene_hgnc_id": 25723,
"gene_symbol": "VASH2",
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Val47Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587543.1",
"strand": true,
"transcript": "ENST00000917484.1",
"transcript_support_level": null
},
{
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"aa_length": 311,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 543,
"cds_end": null,
"cds_length": 936,
"cds_start": 139,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_024749.5",
"gene_hgnc_id": 25723,
"gene_symbol": "VASH2",
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Val47Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_079025.2",
"strand": true,
"transcript": "NM_024749.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 311,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4518,
"cdna_start": 720,
"cds_end": null,
"cds_length": 936,
"cds_start": 139,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000917481.1",
"gene_hgnc_id": 25723,
"gene_symbol": "VASH2",
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Val47Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587540.1",
"strand": true,
"transcript": "ENST00000917481.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 311,
"aa_ref": "V",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4081,
"cdna_start": 283,
"cds_end": null,
"cds_length": 936,
"cds_start": 139,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000917485.1",
"gene_hgnc_id": 25723,
"gene_symbol": "VASH2",
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Val47Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587544.1",
"strand": true,
"transcript": "ENST00000917485.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 306,
"aa_ref": "V",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3620,
"cdna_start": 490,
"cds_end": null,
"cds_length": 921,
"cds_start": 139,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000917491.1",
"gene_hgnc_id": 25723,
"gene_symbol": "VASH2",
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Val47Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587550.1",
"strand": true,
"transcript": "ENST00000917491.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4211,
"cdna_start": 477,
"cds_end": null,
"cds_length": 876,
"cds_start": 139,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000917489.1",
"gene_hgnc_id": 25723,
"gene_symbol": "VASH2",
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Val47Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587548.1",
"strand": true,
"transcript": "ENST00000917489.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "V",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4086,
"cdna_start": 564,
"cds_end": null,
"cds_length": 660,
"cds_start": 139,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000917480.1",
"gene_hgnc_id": 25723,
"gene_symbol": "VASH2",
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Val47Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587539.1",
"strand": true,
"transcript": "ENST00000917480.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 219,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4158,
"cdna_start": 636,
"cds_end": null,
"cds_length": 660,
"cds_start": 139,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000917487.1",
"gene_hgnc_id": 25723,
"gene_symbol": "VASH2",
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Val47Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587546.1",
"strand": true,
"transcript": "ENST00000917487.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 169,
"aa_ref": "V",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2960,
"cdna_start": 466,
"cds_end": null,
"cds_length": 510,
"cds_start": 139,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000366964.7",
"gene_hgnc_id": 25723,
"gene_symbol": "VASH2",
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Val47Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355931.4",
"strand": true,
"transcript": "ENST00000366964.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 154,
"aa_ref": "V",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3828,
"cdna_start": 501,
"cds_end": null,
"cds_length": 465,
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