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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: 10-34331221-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=34331221&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PARD3",
"hgnc_id": 16051,
"hgvs_c": "c.2738C>A",
"hgvs_p": "p.Pro913Gln",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_019619.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9621,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "10",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Neural tube defect",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4601467251777649,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1353,
"aa_ref": "P",
"aa_start": 910,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 3030,
"cds_end": null,
"cds_length": 4062,
"cds_start": 2729,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001184785.2",
"gene_hgnc_id": 16051,
"gene_symbol": "PARD3",
"hgvs_c": "c.2729C>A",
"hgvs_p": "p.Pro910Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374788.8",
"protein_coding": true,
"protein_id": "NP_001171714.1",
"strand": false,
"transcript": "NM_001184785.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1353,
"aa_ref": "P",
"aa_start": 910,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5971,
"cdna_start": 3030,
"cds_end": null,
"cds_length": 4062,
"cds_start": 2729,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000374788.8",
"gene_hgnc_id": 16051,
"gene_symbol": "PARD3",
"hgvs_c": "c.2729C>A",
"hgvs_p": "p.Pro910Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001184785.2",
"protein_coding": true,
"protein_id": "ENSP00000363920.3",
"strand": false,
"transcript": "ENST00000374788.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1356,
"aa_ref": "P",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5980,
"cdna_start": 3039,
"cds_end": null,
"cds_length": 4071,
"cds_start": 2738,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000374789.8",
"gene_hgnc_id": 16051,
"gene_symbol": "PARD3",
"hgvs_c": "c.2738C>A",
"hgvs_p": "p.Pro913Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363921.3",
"strand": false,
"transcript": "ENST00000374789.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1340,
"aa_ref": "P",
"aa_start": 897,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5962,
"cdna_start": 3020,
"cds_end": null,
"cds_length": 4023,
"cds_start": 2690,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000545693.5",
"gene_hgnc_id": 16051,
"gene_symbol": "PARD3",
"hgvs_c": "c.2690C>A",
"hgvs_p": "p.Pro897Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443147.1",
"strand": false,
"transcript": "ENST00000545693.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1319,
"aa_ref": "P",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5869,
"cdna_start": 3039,
"cds_end": null,
"cds_length": 3960,
"cds_start": 2738,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000346874.9",
"gene_hgnc_id": 16051,
"gene_symbol": "PARD3",
"hgvs_c": "c.2738C>A",
"hgvs_p": "p.Pro913Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340591.4",
"strand": false,
"transcript": "ENST00000346874.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1310,
"aa_ref": "P",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5842,
"cdna_start": 2901,
"cds_end": null,
"cds_length": 3933,
"cds_start": 2600,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000350537.9",
"gene_hgnc_id": 16051,
"gene_symbol": "PARD3",
"hgvs_c": "c.2600C>A",
"hgvs_p": "p.Pro867Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000311986.6",
"strand": false,
"transcript": "ENST00000350537.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1266,
"aa_ref": "P",
"aa_start": 823,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5740,
"cdna_start": 2798,
"cds_end": null,
"cds_length": 3801,
"cds_start": 2468,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000545260.5",
"gene_hgnc_id": 16051,
"gene_symbol": "PARD3",
"hgvs_c": "c.2468C>A",
"hgvs_p": "p.Pro823Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440857.1",
"strand": false,
"transcript": "ENST00000545260.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1244,
"aa_ref": "P",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5644,
"cdna_start": 2814,
"cds_end": null,
"cds_length": 3735,
"cds_start": 2513,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000374794.8",
"gene_hgnc_id": 16051,
"gene_symbol": "PARD3",
"hgvs_c": "c.2513C>A",
"hgvs_p": "p.Pro838Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363926.3",
"strand": false,
"transcript": "ENST00000374794.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1031,
"aa_ref": "P",
"aa_start": 910,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3518,
"cdna_start": 3059,
"cds_end": null,
"cds_length": 3096,
"cds_start": 2729,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000340077.9",
"gene_hgnc_id": 16051,
"gene_symbol": "PARD3",
"hgvs_c": "c.2729C>A",
"hgvs_p": "p.Pro910Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341844.5",
"strand": false,
"transcript": "ENST00000340077.9",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 988,
"aa_ref": "P",
"aa_start": 867,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3364,
"cdna_start": 2901,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2600,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000374776.6",
"gene_hgnc_id": 16051,
"gene_symbol": "PARD3",
"hgvs_c": "c.2600C>A",
"hgvs_p": "p.Pro867Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363908.1",
"strand": false,
"transcript": "ENST00000374776.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 747,
"aa_ref": "P",
"aa_start": 626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2475,
"cdna_start": 2020,
"cds_end": null,
"cds_length": 2244,
"cds_start": 1877,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000544292.5",
"gene_hgnc_id": 16051,
"gene_symbol": "PARD3",
"hgvs_c": "c.1877C>A",
"hgvs_p": "p.Pro626Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444429.1",
"strand": false,
"transcript": "ENST00000544292.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
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"aa_length": 1356,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5980,
"cdna_start": 3039,
"cds_end": null,
"cds_length": 4071,
"cds_start": 2738,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_019619.4",
"gene_hgnc_id": 16051,
"gene_symbol": "PARD3",
"hgvs_c": "c.2738C>A",
"hgvs_p": "p.Pro913Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_062565.2",
"strand": false,
"transcript": "NM_019619.4",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5958,
"cdna_start": 3017,
"cds_end": null,
"cds_length": 4068,
"cds_start": 2735,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000926311.1",
"gene_hgnc_id": 16051,
"gene_symbol": "PARD3",
"hgvs_c": "c.2735C>A",
"hgvs_p": "p.Pro912Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596370.1",
"strand": false,
"transcript": "ENST00000926311.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1352,
"aa_ref": "P",
"aa_start": 909,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6004,
"cdna_start": 3063,
"cds_end": null,
"cds_length": 4059,
"cds_start": 2726,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000926300.1",
"gene_hgnc_id": 16051,
"gene_symbol": "PARD3",
"hgvs_c": "c.2726C>A",
"hgvs_p": "p.Pro909Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596359.1",
"strand": false,
"transcript": "ENST00000926300.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1343,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5008,
"cdna_start": 3014,
"cds_end": null,
"cds_length": 4032,
"cds_start": 2699,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000926315.1",
"gene_hgnc_id": 16051,
"gene_symbol": "PARD3",
"hgvs_c": "c.2699C>A",
"hgvs_p": "p.Pro900Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596374.1",
"strand": false,
"transcript": "ENST00000926315.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "P",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4393,
"cdna_start": 3009,
"cds_end": null,
"cds_length": 4029,
"cds_start": 2696,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000963016.1",
"gene_hgnc_id": 16051,
"gene_symbol": "PARD3",
"hgvs_c": "c.2696C>A",
"hgvs_p": "p.Pro899Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633075.1",
"strand": false,
"transcript": "ENST00000963016.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1340,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5932,
"cdna_start": 2991,
"cds_end": null,
"cds_length": 4023,
"cds_start": 2690,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001184786.2",
"gene_hgnc_id": 16051,
"gene_symbol": "PARD3",
"hgvs_c": "c.2690C>A",
"hgvs_p": "p.Pro897Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171715.1",
"strand": false,
"transcript": "NM_001184786.2",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4417,
"cdna_start": 3030,
"cds_end": null,
"cds_length": 4023,
"cds_start": 2690,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000963011.1",
"gene_hgnc_id": 16051,
"gene_symbol": "PARD3",
"hgvs_c": "c.2690C>A",
"hgvs_p": "p.Pro897Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633070.1",
"strand": false,
"transcript": "ENST00000963011.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5959,
"cdna_start": 3018,
"cds_end": null,
"cds_length": 4020,
"cds_start": 2687,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000926302.1",
"gene_hgnc_id": 16051,
"gene_symbol": "PARD3",
"hgvs_c": "c.2687C>A",
"hgvs_p": "p.Pro896Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596361.1",
"strand": false,
"transcript": "ENST00000926302.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1337,
"aa_ref": "P",
"aa_start": 894,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5954,
"cdna_start": 3012,
"cds_end": null,
"cds_length": 4014,
"cds_start": 2681,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000963004.1",
"gene_hgnc_id": 16051,
"gene_symbol": "PARD3",
"hgvs_c": "c.2681C>A",
"hgvs_p": "p.Pro894Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633063.1",
"strand": false,
"transcript": "ENST00000963004.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1329,
"aa_ref": "P",
"aa_start": 886,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6283,
"cdna_start": 3342,
"cds_end": null,
"cds_length": 3990,
"cds_start": 2657,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
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