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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: 1-173825286-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=173825286&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DARS2",
"hgnc_id": 25538,
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_018122.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8399999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 645,
"aa_ref": "R",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3336,
"cdna_start": 614,
"cds_end": null,
"cds_length": 1938,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_018122.5",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000649689.2",
"protein_coding": true,
"protein_id": "NP_060592.2",
"strand": true,
"transcript": "NM_018122.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 645,
"aa_ref": "R",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3336,
"cdna_start": 614,
"cds_end": null,
"cds_length": 1938,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000649689.2",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018122.5",
"protein_coding": true,
"protein_id": "ENSP00000497569.1",
"strand": true,
"transcript": "ENST00000649689.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 624,
"aa_ref": "R",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3209,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1875,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000647645.1",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497450.1",
"strand": true,
"transcript": "ENST00000647645.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 613,
"aa_ref": "R",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3254,
"cdna_start": 655,
"cds_end": null,
"cds_length": 1842,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000893356.1",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563415.1",
"strand": true,
"transcript": "ENST00000893356.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 611,
"aa_ref": "R",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3367,
"cdna_start": 747,
"cds_end": null,
"cds_length": 1836,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000893354.1",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563413.1",
"strand": true,
"transcript": "ENST00000893354.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 609,
"aa_ref": "R",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2646,
"cdna_start": 694,
"cds_end": null,
"cds_length": 1830,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000893363.1",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563422.1",
"strand": true,
"transcript": "ENST00000893363.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 608,
"aa_ref": "R",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3222,
"cdna_start": 636,
"cds_end": null,
"cds_length": 1827,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000893361.1",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563420.1",
"strand": true,
"transcript": "ENST00000893361.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "R",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3183,
"cdna_start": 614,
"cds_end": null,
"cds_length": 1785,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001365212.1",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352141.1",
"strand": true,
"transcript": "NM_001365212.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 594,
"aa_ref": "R",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3057,
"cdna_start": 634,
"cds_end": null,
"cds_length": 1785,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000648807.1",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497472.1",
"strand": true,
"transcript": "ENST00000648807.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 585,
"aa_ref": "R",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3144,
"cdna_start": 604,
"cds_end": null,
"cds_length": 1758,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000919979.1",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590038.1",
"strand": true,
"transcript": "ENST00000919979.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 579,
"aa_ref": "R",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3141,
"cdna_start": 634,
"cds_end": null,
"cds_length": 1740,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000893359.1",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563418.1",
"strand": true,
"transcript": "ENST00000893359.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 575,
"aa_ref": "R",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3106,
"cdna_start": 607,
"cds_end": null,
"cds_length": 1728,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000919980.1",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590039.1",
"strand": true,
"transcript": "ENST00000919980.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 574,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3009,
"cdna_start": 620,
"cds_end": null,
"cds_length": 1725,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 1,
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"feature": "ENST00000919981.1",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590040.1",
"strand": true,
"transcript": "ENST00000919981.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 573,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": 624,
"cds_end": null,
"cds_length": 1722,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000893357.1",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563416.1",
"strand": true,
"transcript": "ENST00000893357.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2955,
"cdna_start": 614,
"cds_end": null,
"cds_length": 1689,
"cds_start": 57,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000966171.1",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636230.1",
"strand": true,
"transcript": "ENST00000966171.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 560,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2960,
"cdna_start": 613,
"cds_end": null,
"cds_length": 1683,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000919982.1",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590041.1",
"strand": true,
"transcript": "ENST00000919982.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3150,
"cdna_start": 694,
"cds_end": null,
"cds_length": 1674,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000893355.1",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000563414.1",
"strand": true,
"transcript": "ENST00000893355.1",
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},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 624,
"cds_end": null,
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000649067.1",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497052.1",
"strand": true,
"transcript": "ENST00000649067.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2972,
"cdna_start": 706,
"cds_end": null,
"cds_length": 1608,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000893362.1",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563421.1",
"strand": true,
"transcript": "ENST00000893362.1",
"transcript_support_level": null
},
{
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"aa_length": 526,
"aa_ref": "R",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2339,
"cdna_start": 634,
"cds_end": null,
"cds_length": 1581,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000919983.1",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590042.1",
"strand": true,
"transcript": "ENST00000919983.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 489,
"aa_ref": "R",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2871,
"cdna_start": 617,
"cds_end": null,
"cds_length": 1470,
"cds_start": 57,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000893358.1",
"gene_hgnc_id": 25538,
"gene_symbol": "DARS2",
"hgvs_c": "c.57A>G",
"hgvs_p": "p.Arg19Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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