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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: 17-44350299-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44350299&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4_Strong",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GRN",
"hgnc_id": 4601,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_002087.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_score": -5,
"allele_count_reference_population": 37,
"alphamissense_prediction": null,
"alphamissense_score": 0.0671,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "17",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "GRN-related disorder,GRN-related frontotemporal lobar degeneration with Tdp43 inclusions,Inborn genetic diseases,Neuronal ceroid lipofuscinosis 11,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:3 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0366840660572052,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 593,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 461,
"cds_end": null,
"cds_length": 1782,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_002087.4",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000053867.8",
"protein_coding": true,
"protein_id": "NP_002078.1",
"strand": true,
"transcript": "NM_002087.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 593,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 461,
"cds_end": null,
"cds_length": 1782,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000053867.8",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002087.4",
"protein_coding": true,
"protein_id": "ENSP00000053867.2",
"strand": true,
"transcript": "ENST00000053867.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 593,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2193,
"cdna_start": 524,
"cds_end": null,
"cds_length": 1782,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900927.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570986.1",
"strand": true,
"transcript": "ENST00000900927.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 593,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 614,
"cds_end": null,
"cds_length": 1782,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000900929.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570988.1",
"strand": true,
"transcript": "ENST00000900929.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 593,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": 514,
"cds_end": null,
"cds_length": 1782,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000900931.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570990.1",
"strand": true,
"transcript": "ENST00000900931.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 593,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2167,
"cdna_start": 498,
"cds_end": null,
"cds_length": 1782,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000900932.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570991.1",
"strand": true,
"transcript": "ENST00000900932.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 593,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": 704,
"cds_end": null,
"cds_length": 1782,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000918283.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588342.1",
"strand": true,
"transcript": "ENST00000918283.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 593,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2394,
"cdna_start": 725,
"cds_end": null,
"cds_length": 1782,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000918285.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588344.1",
"strand": true,
"transcript": "ENST00000918285.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 593,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 537,
"cds_end": null,
"cds_length": 1782,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000918286.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588345.1",
"strand": true,
"transcript": "ENST00000918286.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 593,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": 617,
"cds_end": null,
"cds_length": 1782,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000944506.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614565.1",
"strand": true,
"transcript": "ENST00000944506.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 593,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": 701,
"cds_end": null,
"cds_length": 1782,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000944507.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614566.1",
"strand": true,
"transcript": "ENST00000944507.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 577,
"aa_ref": "V",
"aa_start": 125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": 417,
"cds_end": null,
"cds_length": 1734,
"cds_start": 373,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900934.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Val125Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570993.1",
"strand": true,
"transcript": "ENST00000900934.1",
"transcript_support_level": null
},
{
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"aa_length": 573,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2074,
"cdna_start": 465,
"cds_end": null,
"cds_length": 1722,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900930.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570989.1",
"strand": true,
"transcript": "ENST00000900930.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 569,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2098,
"cdna_start": 503,
"cds_end": null,
"cds_length": 1710,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900928.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570987.1",
"strand": true,
"transcript": "ENST00000900928.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 568,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 461,
"cds_end": null,
"cds_length": 1707,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900935.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570994.1",
"strand": true,
"transcript": "ENST00000900935.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 556,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2213,
"cdna_start": 655,
"cds_end": null,
"cds_length": 1671,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900926.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570985.1",
"strand": true,
"transcript": "ENST00000900926.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 511,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1884,
"cdna_start": 461,
"cds_end": null,
"cds_length": 1536,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000900933.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570992.1",
"strand": true,
"transcript": "ENST00000900933.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 487,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1812,
"cdna_start": 461,
"cds_end": null,
"cds_length": 1464,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000918284.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588343.1",
"strand": true,
"transcript": "ENST00000918284.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 436,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1632,
"cdna_start": 458,
"cds_end": null,
"cds_length": 1311,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000589265.5",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467616.1",
"strand": true,
"transcript": "ENST00000589265.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 190,
"aa_ref": "V",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 614,
"cdna_start": 503,
"cds_end": null,
"cds_length": 574,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000587387.5",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Val155Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467431.1",
"strand": true,
"transcript": "ENST00000587387.5",
"transcript_support_level": 4
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 162,
"aa_ref": "V",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 546,
"cdna_start": 477,
"cds_end": null,
"cds_length": 490,
"cds_start": 421,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000588143.5",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
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