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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: 8-143991561-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143991561&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GRINA",
"hgnc_id": 4589,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_000837.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PARP10",
"hgnc_id": 25895,
"hgvs_c": "c.-79-5123G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000530478.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1847,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "8",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.21683210134506226,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 371,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1858,
"cdna_start": 506,
"cds_end": null,
"cds_length": 1116,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001009184.2",
"gene_hgnc_id": 4589,
"gene_symbol": "GRINA",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000395068.9",
"protein_coding": true,
"protein_id": "NP_001009184.1",
"strand": true,
"transcript": "NM_001009184.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 371,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1858,
"cdna_start": 506,
"cds_end": null,
"cds_length": 1116,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000395068.9",
"gene_hgnc_id": 4589,
"gene_symbol": "GRINA",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001009184.2",
"protein_coding": true,
"protein_id": "ENSP00000378507.4",
"strand": true,
"transcript": "ENST00000395068.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 423,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1968,
"cdna_start": 461,
"cds_end": null,
"cds_length": 1272,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000857587.1",
"gene_hgnc_id": 4589,
"gene_symbol": "GRINA",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527646.1",
"strand": true,
"transcript": "ENST00000857587.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 383,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1866,
"cdna_start": 477,
"cds_end": null,
"cds_length": 1152,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000857582.1",
"gene_hgnc_id": 4589,
"gene_symbol": "GRINA",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527641.1",
"strand": true,
"transcript": "ENST00000857582.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 371,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1970,
"cdna_start": 618,
"cds_end": null,
"cds_length": 1116,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_000837.2",
"gene_hgnc_id": 4589,
"gene_symbol": "GRINA",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000828.1",
"strand": true,
"transcript": "NM_000837.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 371,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1968,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1116,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000313269.5",
"gene_hgnc_id": 4589,
"gene_symbol": "GRINA",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000314380.5",
"strand": true,
"transcript": "ENST00000313269.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 371,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1987,
"cdna_start": 623,
"cds_end": null,
"cds_length": 1116,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000857578.1",
"gene_hgnc_id": 4589,
"gene_symbol": "GRINA",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527637.1",
"strand": true,
"transcript": "ENST00000857578.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 371,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": 539,
"cds_end": null,
"cds_length": 1116,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000857588.1",
"gene_hgnc_id": 4589,
"gene_symbol": "GRINA",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527647.1",
"strand": true,
"transcript": "ENST00000857588.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 371,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 1102,
"cds_end": null,
"cds_length": 1116,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000857589.1",
"gene_hgnc_id": 4589,
"gene_symbol": "GRINA",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527648.1",
"strand": true,
"transcript": "ENST00000857589.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 363,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1837,
"cdna_start": 509,
"cds_end": null,
"cds_length": 1092,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000857580.1",
"gene_hgnc_id": 4589,
"gene_symbol": "GRINA",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527639.1",
"strand": true,
"transcript": "ENST00000857580.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 363,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1911,
"cdna_start": 583,
"cds_end": null,
"cds_length": 1092,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000857585.1",
"gene_hgnc_id": 4589,
"gene_symbol": "GRINA",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527644.1",
"strand": true,
"transcript": "ENST00000857585.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 348,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1050,
"cdna_start": 108,
"cds_end": null,
"cds_length": 1049,
"cds_start": 107,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000534791.5",
"gene_hgnc_id": 4589,
"gene_symbol": "GRINA",
"hgvs_c": "c.107C>T",
"hgvs_p": "p.Pro36Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435901.1",
"strand": true,
"transcript": "ENST00000534791.5",
"transcript_support_level": 5
},
{
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"aa_length": 347,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1757,
"cdna_start": 477,
"cds_end": null,
"cds_length": 1044,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000857583.1",
"gene_hgnc_id": 4589,
"gene_symbol": "GRINA",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527642.1",
"strand": true,
"transcript": "ENST00000857583.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 347,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1869,
"cdna_start": 589,
"cds_end": null,
"cds_length": 1044,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000857584.1",
"gene_hgnc_id": 4589,
"gene_symbol": "GRINA",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527643.1",
"strand": true,
"transcript": "ENST00000857584.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 345,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": 484,
"cds_end": null,
"cds_length": 1038,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000857581.1",
"gene_hgnc_id": 4589,
"gene_symbol": "GRINA",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527640.1",
"strand": true,
"transcript": "ENST00000857581.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 345,
"aa_ref": "P",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1850,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1038,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000857586.1",
"gene_hgnc_id": 4589,
"gene_symbol": "GRINA",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527645.1",
"strand": true,
"transcript": "ENST00000857586.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 328,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1736,
"cdna_start": 509,
"cds_end": null,
"cds_length": 987,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000857579.1",
"gene_hgnc_id": 4589,
"gene_symbol": "GRINA",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527638.1",
"strand": true,
"transcript": "ENST00000857579.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1075,
"cdna_start": 591,
"cds_end": null,
"cds_length": 822,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000529301.5",
"gene_hgnc_id": 4589,
"gene_symbol": "GRINA",
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432706.1",
"strand": true,
"transcript": "ENST00000529301.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
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"aa_ref": "P",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 564,
"cdna_start": 6,
"cds_end": null,
"cds_length": 563,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000533044.5",
"gene_hgnc_id": 4589,
"gene_symbol": "GRINA",
"hgvs_c": "c.5C>T",
"hgvs_p": "p.Pro2Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432095.1",
"strand": true,
"transcript": "ENST00000533044.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1025,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3775,
"cdna_start": null,
"cds_end": null,
"cds_length": 3078,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000857398.1",
"gene_hgnc_id": 25895,
"gene_symbol": "PARP10",
"hgvs_c": "c.-79-5123G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527457.1",
"strand": false,
"transcript": "ENST00000857398.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1016,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3743,
"cdna_start": null,
"cds_end": null,
"cds_length": 3051,
"cds_start": null,
"consequences": [
"intron_variant"
],
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